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51. Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (vol 50, pg 1412, 2018)

Author: Evangelou, E, Warren, HR, Mosen-Ansorena, D, Mifsud, B, Pazoki, R, Gao, H, Ntritsos, G, Dimou, N, Cabrera, CP, Karaman, I, Fu, LN, Evangelou, M, Witkowska, K, Tzanis, E, Hellwege, JN, Giri, A, Edwards, DRV, Sun, YV, Cho, K, Gaziano, JM, Wilson, PWF, Tsao, PS, Kovesdy, CP, Esko, T, Magi, R, Milani, L, Almgren, P, Boutin, T, Debette, S, Ding, J, Giulianini, F, Holliday, EG, Jackson, AU, Li-Gao, R, Lin, W-Y, Luan, J, Mangino, M, Oldmeadow, C, Prins, BP, Qian, Y, Sargurupremraj, M, Shah, N, Surendran, P, Theriault, S, Verweij, N, Willems, SM, Zhao, J-H, Amouyel, P, Connell, J, De Mutsert, R, Doney, ASF, Farrall, M, Menni, C, Morris, AD, Noordam, R, Pare, G, Poulter, NR, Shields, DC, Stanton, A, Thom, S, Abecasis, G, Amin, N, Arking, DE, Ayers, KL, Barbieri, CM, Batini, C, Bis, JC, Blake, T, Bochud, M, Boehnke, M, Boerwinkle, E, Boomsma, DI, Bottinger, EP, Braund, PS, Brumat, M, Campbell, A, Campbell, H, Chakravarti, A, Chambers, JC, Chauhan, G, Ciullo, M, Cocca, M, Collins, F, Cordell, HJ, Davies, G, De Borst, MH, De Geus, EJ, Deary, IJ, Deelen, J, Del Greco, FM, Demirkale, CY, Dorr, M, Ehret, GB, Elosua, R, Enroth, S, Erzurumluoglu, AM, Ferreira, T, Franberg, M, Franco, OH, Gandin, I, Gasparini, P, Giedraitis, V, Gieger, C, Girotto, G, Goel, A, Gow, AJ, Gudnason, V, Guo, X, Gyllensten, U, Hamsten, A, Harris, TB, Harris, SE, Hartman, CA, Havulinna, AS, Hicks, AA, Hofer, E, Hofman, A, Hottenga, J-J, Huffman, JE, Hwang, S-J, Ingelsson, E, James, A, Jansen, R, Jarvelin, M-R, Joehanes, R, Johansson, A, Johnson, AD, Joshi, PK, Jousilahti, P, Jukema, JW, Jula, A, Kahonen, M, Kathiresan, S, Keavney, BD, Khaw, K-T, Knekt, P, Knight, J, Kolcic, I, Kooner, JS, Koskinen, S, Kristiansson, K, Kutalik, Z, Laan, M, Larson, M, Launer, LJ, Lehne, B, Lehtimaki, T, Liewald, DCM, Lin, L, Lind, L, Lindgren, CM, Liu, Y, Loos, RJF, Lopez, LM, Lu, Y, Lyytikainen, L-P, Mahajan, A, Mamasoula, C, Marrugat, J, Marten, J, Milaneschi, Y, Morgan, A, Morris, AP, Morrison, AC, Munson, PJ, Nalls, MA, Nandakumar, P, Nelson, CP, Niiranen, T, Nolte, IM, Nutile, T, Oldehinkel, AJ, Oostra, BA, O'Reilly, PF, Org, E, Padmanabhan, S, Palmas, W, Palotie, A, Pattie, A, Penninx, BWJH, Perola, M, Peters, A, Polasek, O, Pramstaller, PP, Quang, TN, Raitakari, OT, Ren, M, Rettig, R, Rice, K, Ridker, PM, Ried, JS, Riese, H, Ripatti, S, Robino, A, Rose, LM, Rotter, JI, Rudan, I, Ruggiero, D, Saba, Y, Sala, CF, Salomaa, V, Samani, NJ, Sarin, A-P, Schmidt, R, Schmidt, H, Shrine, N, Siscovick, D, Smith, AV, Snieder, H, Sober, S, Sorice, R, Starr, JM, Stott, DJ, Strachan, DP, Strawbridge, RJ, Sundstrom, J, Swertz, MA, Taylor, KD, Teumer, A, Tobin, MD, Tomaszewski, M, Toniolo, D, Traglia, M, Trompet, S, Tuomilehto, J, Tzourio, C, Uitterlinden, AG, Vaez, A, Van der Most, PJ, Van Duijn, CM, Vergnaud, A-C, Verwoert, GC, Vitart, V, Volker, U, Vollenweider, P, Vuckovic, D, Watkins, H, Wild, SH, Willemsen, G, Wilson, JF, Wright, AF, Yao, J, Zemunik, T, Zhang, W, Attia, JR, Butterworth, AS, Chasman, DI, Conen, D, Cucca, F, Danesh, J, Hayward, C, Howson, JMM, Laakso, M, Lakatta, EG, Langenberg, C, Melander, O, Mook-Kanamori, DO, Palmer, CNA, Risch, L, Scott, RA, Scott, RJ, Sever, P, Spector, TD, Van der Harst, P, Wareham, NJ, Zeggini, E, Levy, D, Munroe, PB, Newton-Cheh, C, Brown, MJ, Metspalu, A, Hung, AM, O'Donnell, CJ, Edwards, TL, Psaty, BM, Tzoulaki, I, Barnes, MR, Wain, LV, Elliott, P, and Caulfield, MJ
Subjects: Genetics & Heredity, Science & Technology, Million Veteran Program, 06 Biological Sciences, Life Sciences & Biomedicine, 11 Medical and Health Sciences, Developmental Biology
Abstract: Correction to: Nature Genetics https://doi.org/10.1038/s41588-018-0205-x, published online 17 September 2018.
Published: 2018

52. The first and second backcross progeny of the intergeneric fusion hybrids of potato and tomato after crossing with potato

Author: Jacobsen, E., Daniel, M. K., Bergervoet-van Deelen, J. E. M., Huigen, D. J., and Ramanna, M. S.
Published: 1994
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53. SIOG2022-0191 - Discovering aging associated biomarkers by metabolomic analysis in a small cohort of single-institution study for surgical resectable pancreatic ductal adenocarcinoma (PDAC) patients

Author: Zhao, Y., Fan, N., Acciuffi, S., Wartmann, T., Deelen, J., Link, A., Vargas, R.V., Kahlert, U., Halangk, W., Malfertainer, P., Polidori, M.C., and Bruns, C.
Published: 2022
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54. A meta-analysis of genome-wide association studies identifies multiple longevity genes

Author: Deelen, J (author), D., Evans (author), Dan E., Arking (author), Tesi, N. (author), M, Nygaard (author), Liu, Xiaoming (author), Mary K., Wojczynski (author), Reinders, M.J.T. (author), Holstege, H. (author), Deelen, J (author), D., Evans (author), Dan E., Arking (author), Tesi, N. (author), M, Nygaard (author), Liu, Xiaoming (author), Mary K., Wojczynski (author), Reinders, M.J.T. (author), and Holstege, H. (author)
Abstract: Human longevity is heritable, but genome-wide association (GWA) studies have had limitedsuccess. Here, we perform two meta-analyses of GWA studies of a rigorous longevityphenotype definition including 11,262/3484 cases surviving at or beyond the age corre-sponding to the 90th/99th survival percentile, respectively, and 25,483 controls whose ageat death or at last contact was at or below the age corresponding to the 60th survivalpercentile. Consistent with previous reports, rs429358 (apolipoprotein E (ApoE)ε4) isassociated with lower odds of surviving to the 90th and 99th percentile age, while rs7412(ApoEε2) shows the opposite. Moreover, rs7676745, located nearGPR78, associates withlower odds of surviving to the 90th percentile age. Gene-level association analysis reveals arole for tissue-specific expression of multiple genes in longevity. Finally, genetic correlation ofthe longevity GWA results with that of several disease-related phenotypes points to a sharedgenetic architecture between health and longevity, Pattern Recognition and Bioinformatics, Intelligent Systems
Published: 2019
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55. Modelling Supported Design of Light Management Structures in Ultra-Thin Cigs Photovoltaic Devices

Author: Kovacic, M., Krc, J., Lipovsek, B., Chen, Wei-Chao, Edoff, Marika, Bolt, P. J., van Deelen, J., Zhukova, M., Lontchi, J., Flandre, D., Salome, P., Topic, M., Kovacic, M., Krc, J., Lipovsek, B., Chen, Wei-Chao, Edoff, Marika, Bolt, P. J., van Deelen, J., Zhukova, M., Lontchi, J., Flandre, D., Salome, P., and Topic, M.
Abstract: Chalcopyrite solar cells exhibit one of the highest conversion efficiencies among thin-film solar cell technologies (> 23.3%), however a considerably thick absorber >= 1.8 mu m is required for an efficient absorption of the long-wavelength light and collection of charge carriers. In order to minimize the material consumption and to accelerate the fabrication process, further thinning down of the absorber layer is important. Using a thin absorber layer results in a highly reduced photocurrent density and to compensate for it an effective light management needs to be introduced. Experimentally supported, advanced optical simulations in a PV module configuration, i.e. solar cell structure including the encapsulation and front glass are employed to design solutions to increase the short current density of devices with ultra-thin (500 nm) absorbers. In particular (i) highly reflective metal back reflector (BR), (ii) internal nano-textures and (iii) external textures by applying a light management (LM) foil are investigated by simulations. Experimental verification of simulation results is presented for the external texture case. In the scope of this contribution we show that any individual aforementioned approach is not sufficient to compensate for the short circuit current drop of the thin CIGS, but only a combination of highly reflective back contact and introduction of textures (internal or external) is able to compensate and also to exceed (by more than 5 % for internal texture) photocurrent density of a thick (1800 nm) CIGS absorber.
Published: 2019
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56. Light management design in ultra-thin chalcopyrite photovoltaic devices by employing optical modelling

Author: Kovacic, M., Krc, J., Lipovsek, B., Chen, Wei-Chao, Edoff, Marika, Bolt, P. J., van Deelen, J., Zhukova, M., Lontchi, J., Flandre, D., Salome, P., Topic, M., Kovacic, M., Krc, J., Lipovsek, B., Chen, Wei-Chao, Edoff, Marika, Bolt, P. J., van Deelen, J., Zhukova, M., Lontchi, J., Flandre, D., Salome, P., and Topic, M.
Abstract: In ultra-thin chalcopyrite solar cells and photovoltaic modules, efficient light management is required to increase the photocurrent and to gain in conversion efficiency. In this work we employ optical modelling to investigate different optical approaches and quantify their potential improvements in the short-circuit current density of Cu (In, Ga)Se-2 (CIGS) devices. For structures with an ultra-thin (500 nm) CIGS absorber, we study the improvements related to the introduction of (i) highly reflective metal back reflectors, (ii) internal nano-textures applied to the substrate and (iii) external micro-textures by using a light management foil. In the analysis we use CIGS devices in a PV module configuration, thus, solar cell structure including encapsulation and front glass. A thin Al2O3 layer was considered in the structure at the rear side of CIGS for passivation and diffusion barrier for metal reflectors. We show that not any individual aforementioned approach is sufficient to compensate for the short circuit drop related to ultra-thin absorber, but a combination of a highly reflective back contact and textures (internal or external) is needed to obtain and also exceed the short-circuit current density of a thick (1800 nm) CIGS absorber.
Published: 2019
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57. Perceiving 18th Century England: An Analysis of Voltaire's Letters Concerning the English Nation and Swift's Gulliver's Travels

Author: Deelen, J. van, Aaftink, C. (Thesis Advisor), Deelen, J. van, and Aaftink, C. (Thesis Advisor)
Abstract: Voltaire and Jonathan Swift are often discussed in light of their admiration for and impact on each other. Therefore, it is commonly believed that they share similar convictions with respect to science, religion, freedom of expression, and the manner in which these are manifested in society. This thesis, however, argues against such an interpretation, as it critically re-examines Voltaire and Swift’s views on 18th century English society in order to observe whether their convictions are truly compatible. The argumentation focuses on Voltaire’s Letters Concerning the English Nation and Swift’s Gulliver’s Travels as its primary source material. The fundamental premise of this research lies in determining whether Voltaire’s Letters provides a compatible perception of English society in comparison with Swift’s Gulliver’s Travels. The findings show that Voltaire and Swift’s convictions are fundamentally different. While Voltaire supports Newtonian science for providing society with moral and religious guidance; Swift holds it to be inherently immoral, blasphemous and utterly trivial. Though they agree on the necessity of freedom of expression in society, they nonetheless vary in opinions as to why that is. A reason for this stems from Voltaire and Swift’s different nationalities and respective backgrounds. Voltaire was a Frenchman who was banned from France for assuming his right to freedom of expression, whereas Swift was Anglo-Irish and therefore witnessed England’s transition into a more liberal society that did allow such freedom.
Published: 2019

58. Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting.

Author: Aparicio H.J., Del C. Valdes Hernandez M., Luciano M., Liewald D., Deary I.J., Starr J.M., Bastin M.E., Maniega S.M., Slagboom P.E., Beekman M., Deelen J., Uh H.-W., Lemmens R., Brodaty H., Wright M.J., Ames D., Boncoraglio G.B., Hopewell J.C., Beecham A.H., Blanton S.H., Wright C.B., Sacco R.L., Wen W., Thalamuthu A., Armstrong N.J., Chong E., Schofield P.R., Kwok J.B., van der Grond J., Stott D.J., Ford I., Jukema J.W., Vernooij M.W., Hofman A., Uitterlinden A.G., van der Lugt A., Wittfeld K., Grabe H.J., Hosten N., von Sarnowski B., Volker U., Levi C., Jimenez-Conde J., Sharma P., Sudlow C.L.M., Rosand J., Woo D., Cole J.W., Meschia J.F., Slowik A., Thijs V., Lindgren A., Melander O., Grewal R.P., Rundek T., Rexrode K., Rothwell P.M., Arnett D.K., Jern C., Johnson J.A., Benavente O.R., Wasssertheil-Smoller S., Lee J.-M., Wong Q., Mitchell B.D., Rich S.S., McArdle P.F., Geerlings M.I., van der Graaf Y., de Bakker P.I.W., Asselbergs F.W., Srikanth V., Thomson R., McWhirter R., Moran C., Callisaya M., Phan T., Rutten-Jacobs L.C.A., Bevan S., Tzourio C., Mather K.A., Sachdev P.S., van Duijn C.M., Worrall B.B., Dichgans M., Kittner S.J., Markus H.S., Ikram M.A., Fornage M., Launer L.J., Seshadri S., Longstreth W.T., Debette S., Chauhan G., Adams H.H.H., Satizabal C.L., Bis J.C., Teumer A., Sargurupremraj M., Hofer E., Trompet S., Hilal S., Smith A.V., Jian X., Malik R., Traylor M., Pulit S.L., Amouyel P., Mazoyer B., Zhu Y.-C., Kaffashian S., Schilling S., Beecham G.W., Montine T.J., Schellenberg G.D., Kjartansson O., Gudnason V., Knopman D.S., Griswold M.E., Windham B.G., Gottesman R.F., Mosley T.H., Schmidt R., Saba Y., Schmidt H., Takeuchi F., Yamaguchi S., Nabika T., Kato N., Rajan K.B., Aggarwal N.T., De Jager P.L., Evans D.A., Psaty B.M., Rotter J.I., Rice K., Lopez O.L., Liao J., Chen C., Cheng C.-Y., Wong T.Y., Ikram M.K., van der Lee S.J., Amin N., Chouraki V., Destefano A.L., Romero J.R., Maillard P., Decarli C., Wardlaw J.M., Aparicio H.J., Del C. Valdes Hernandez M., Luciano M., Liewald D., Deary I.J., Starr J.M., Bastin M.E., Maniega S.M., Slagboom P.E., Beekman M., Deelen J., Uh H.-W., Lemmens R., Brodaty H., Wright M.J., Ames D., Boncoraglio G.B., Hopewell J.C., Beecham A.H., Blanton S.H., Wright C.B., Sacco R.L., Wen W., Thalamuthu A., Armstrong N.J., Chong E., Schofield P.R., Kwok J.B., van der Grond J., Stott D.J., Ford I., Jukema J.W., Vernooij M.W., Hofman A., Uitterlinden A.G., van der Lugt A., Wittfeld K., Grabe H.J., Hosten N., von Sarnowski B., Volker U., Levi C., Jimenez-Conde J., Sharma P., Sudlow C.L.M., Rosand J., Woo D., Cole J.W., Meschia J.F., Slowik A., Thijs V., Lindgren A., Melander O., Grewal R.P., Rundek T., Rexrode K., Rothwell P.M., Arnett D.K., Jern C., Johnson J.A., Benavente O.R., Wasssertheil-Smoller S., Lee J.-M., Wong Q., Mitchell B.D., Rich S.S., McArdle P.F., Geerlings M.I., van der Graaf Y., de Bakker P.I.W., Asselbergs F.W., Srikanth V., Thomson R., McWhirter R., Moran C., Callisaya M., Phan T., Rutten-Jacobs L.C.A., Bevan S., Tzourio C., Mather K.A., Sachdev P.S., van Duijn C.M., Worrall B.B., Dichgans M., Kittner S.J., Markus H.S., Ikram M.A., Fornage M., Launer L.J., Seshadri S., Longstreth W.T., Debette S., Chauhan G., Adams H.H.H., Satizabal C.L., Bis J.C., Teumer A., Sargurupremraj M., Hofer E., Trompet S., Hilal S., Smith A.V., Jian X., Malik R., Traylor M., Pulit S.L., Amouyel P., Mazoyer B., Zhu Y.-C., Kaffashian S., Schilling S., Beecham G.W., Montine T.J., Schellenberg G.D., Kjartansson O., Gudnason V., Knopman D.S., Griswold M.E., Windham B.G., Gottesman R.F., Mosley T.H., Schmidt R., Saba Y., Schmidt H., Takeuchi F., Yamaguchi S., Nabika T., Kato N., Rajan K.B., Aggarwal N.T., De Jager P.L., Evans D.A., Psaty B.M., Rotter J.I., Rice K., Lopez O.L., Liao J., Chen C., Cheng C.-Y., Wong T.Y., Ikram M.K., van der Lee S.J., Amin N., Chouraki V., Destefano A.L., Romero J.R., Maillard P., Decarli C., and Wardlaw J.M.
Abstract: Objective To explore genetic and lifestyle risk factors of MRI-defined brain infarcts (BI) in large population-based cohorts. Methods We performed meta-analyses of genome-wide association studies (GWAS) and examined associations of vascular risk factors and their genetic risk scores (GRS) with MRI-defined BI and a subset of BI, namely, small subcortical BI (SSBI), in 18 population-based cohorts (n=20,949) from 5 ethnicities (3,726 with BI, 2,021 with SSBI). Top loci were followed up in 7 population-based cohorts (n = 6,862; 1,483 with BI, 630 with SBBI), and we tested associations with related phenotypes including ischemic stroke and pathologically defined BI. Results The mean prevalence was 17.7% for BI and 10.5% for SSBI, steeply rising after age 65. Two loci showed genome-wide significant association with BI: FBN2, p = 1.77 x 10-8; and LINC00539/ZDHHC20, p = 5.82 x 10-9. Both have been associated with blood pressure (BP)-related phenotypes, but did not replicate in the smaller follow-up sample or show associations with related phenotypes. Age- and sex-adjusted associations with BI and SSBI were observed for BP traits (p value for BI, p[BI] = 9.38 x 10-25; p [SSBI] = 5.23 x 10-14 for hypertension), smoking (p[BI]= 4.4 x 10-10; p [SSBI] = 1.2 x 10 -4), diabetes (p[BI] = 1.7 x 10 -8; p [SSBI] = 2.8 x 10 -3), previous cardiovascular disease (p [BI] = 1.0 x 10-18; p [SSBI] = 2.3 x 10-7), stroke (p [BI] = 3.9 x 10-69; p [SSBI] = 3.2 x 10 -24), and MRI-defined white matter hyperintensity burden (p [BI]=1.43 x 10-157; p [SSBI] = 3.16 x 10-106), but not with body mass index or cholesterol. GRS of BP traits were associated with BI and SSBI (p <= 0.0022), without indication of directional pleiotropy. Conclusion In this multiethnic GWAS meta-analysis, including over 20,000 population-based participants, we identified genetic risk loci for BI requiring validation once additional large datasets become available. High BP, including genetically determined, was the most significa
Published: 2019

59. Metabolomics reveals a link between homocysteine and lipid metabolism and leukocyte telomere length: the ENGAGE consortium

Author: Spek, A. (Ashley) van der, Boer, L (Linda), Draisma, G. (Gerrit), Pool, R. (Reńe), Albrecht, E. (Eva), Beekman, M. (Marian), Mangino, M. (Massimo), Raag, M. (Mait), Nyholt, D.R. (Dale R.), Dharuri, H. (Harish), Codd, V. (Veryan), Amin, N (Najaf), de Geus, E.J.C. (Eco J. C.), Deelen, J. (Joris), Demirkan, A. (Ayşe), Yet, I. (Idil), Fischer, K. (Krista), Haller, T. (Toomas), Henders, A.K. (Anjali K.), Isaacs, A. (Aaron), Medland, S.E. (Sarah E.), Montgomery, G.W. (Grant W.), Mooijaart, S.P. (Simon), Strauch, K. (Konstantin), Suchiman, H.E.D. (H. Eka D.), Vaarhorst, A.A.M. (Anika), Heemst, D. (Diana) van, Wang-Sattler, R. (Rui), Whitfield, J. (John), Willemsen, G. (Gonneke), Wright, M.J. (Margaret J.), Martin, N.G. (Nicholas), Samani, N.J. (Nilesh J.), Metspalu, A. (Andres), Eline Slagboom, P. (P.), Spector, T.D. (Tim D.), Boomsma, D.I. (Dorret I.), Duijn, C.M. (Cornelia) van, Gieger, C. (Christian), Spek, A. (Ashley) van der, Boer, L (Linda), Draisma, G. (Gerrit), Pool, R. (Reńe), Albrecht, E. (Eva), Beekman, M. (Marian), Mangino, M. (Massimo), Raag, M. (Mait), Nyholt, D.R. (Dale R.), Dharuri, H. (Harish), Codd, V. (Veryan), Amin, N (Najaf), de Geus, E.J.C. (Eco J. C.), Deelen, J. (Joris), Demirkan, A. (Ayşe), Yet, I. (Idil), Fischer, K. (Krista), Haller, T. (Toomas), Henders, A.K. (Anjali K.), Isaacs, A. (Aaron), Medland, S.E. (Sarah E.), Montgomery, G.W. (Grant W.), Mooijaart, S.P. (Simon), Strauch, K. (Konstantin), Suchiman, H.E.D. (H. Eka D.), Vaarhorst, A.A.M. (Anika), Heemst, D. (Diana) van, Wang-Sattler, R. (Rui), Whitfield, J. (John), Willemsen, G. (Gonneke), Wright, M.J. (Margaret J.), Martin, N.G. (Nicholas), Samani, N.J. (Nilesh J.), Metspalu, A. (Andres), Eline Slagboom, P. (P.), Spector, T.D. (Tim D.), Boomsma, D.I. (Dorret I.), Duijn, C.M. (Cornelia) van, and Gieger, C. (Christian)
Abstract: Telomere shortening has been associated with multiple age-related diseases such as cardiovascular disease, diabetes, and dementia. However, the biological mechanisms responsible for these associations remain largely unknown. In order to gain insight into the metabolic processes driving the association of leukocyte telomere length (LTL) with age-related diseases, we investigated the association between LTL and serum metabolite levels in 7,853 individuals from seven independent cohorts. LTL was determined by quantitative polymerase chain reaction and the levels of 131 serum metabolites were measured with mass spectrometry in biological samples from the same blood draw. With partial correlation analysis, we identified six metabolites that were significantly associated with LTL after adjustment for multiple testing: lysophosphatidylcholine acyl C17:0 (lysoPC a C17:0, p-value = 7.1 × 10−6), methionine (p-value = 9.2 × 10−5), tyrosine (p-value = 2.1 × 10−4), phosphatidylcholine diacyl C32:1 (PC aa C32:1, p-value = 2.4 × 10−4), hydroxypropionylcarnitine (C3-OH, p-value = 2.6 × 10−4), and phosphatidylcholine acyl-alkyl C38:4 (PC ae C38:4, p-value = 9.0 × 10−4). Pathway analysis showed that the three phosphatidylcholines and methionine are involved in homocysteine metabolism and we found supporting evidence for an association of lipid metabolism with LTL. In conclusion, we found longer LTL associated with higher levels of lysoPC a C17:0 and PC ae C38:4, and with lower levels of methionine, tyrosine, PC aa C32:1, and C3-OH. These metabolites have been implicated in inflammation, oxidative stress, homocysteine metabolism, and in cardiovascular disease and diabetes, two major drivers of morbidity and mortality.
Published: 2019
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60. A metabolic profile of all-cause mortality risk identified in an observational study of 44,168 individuals

Author: Deelen, J. (Joris), Kettunen, J. (Johannes), Fischer, K. (Krista), Spek, A. (Ashley) van der, Trompet, S. (Stella), Kastenmuller, G. (Gabi), Boyd, A. (Andy), Zierer, J. (Jonas), Akker, E.B. (Erik) van den, Ala-Korpela, M. (Mika), Amin, N. (Najaf), Demirkan, A. (Ayse), Ghanbari, M. (Mohsen), Heemst, D. (Diana) van, Ikram, M.A. (Arfan), Klinken, J.B. (Jan Bert) van, Mooijaart, S.P. (Simon), Peters, A. (Annette), Salomaa, V. (Veikko), Sattar, N. (Naveed), Spector, T.D. (Timothy), Tiemeier, H.W. (Henning), Verhoeven, A. (Aswin), Waldenberger, M. (Melanie), Würtz, P. (Peter), Davey Smith, G. (George), Metspalu, A. (Andres), Perola, M. (Markus), Menni, C. (Cristina), Geleijnse, J.M. (Johanna M.), Drenos, F. (Fotios), Beekman, M. (Marian), Jukema, J.W. (Jan Wouter), Duijn, C.M. (Cornelia) van, Slagboom, P.E. (Eline), Deelen, J. (Joris), Kettunen, J. (Johannes), Fischer, K. (Krista), Spek, A. (Ashley) van der, Trompet, S. (Stella), Kastenmuller, G. (Gabi), Boyd, A. (Andy), Zierer, J. (Jonas), Akker, E.B. (Erik) van den, Ala-Korpela, M. (Mika), Amin, N. (Najaf), Demirkan, A. (Ayse), Ghanbari, M. (Mohsen), Heemst, D. (Diana) van, Ikram, M.A. (Arfan), Klinken, J.B. (Jan Bert) van, Mooijaart, S.P. (Simon), Peters, A. (Annette), Salomaa, V. (Veikko), Sattar, N. (Naveed), Spector, T.D. (Timothy), Tiemeier, H.W. (Henning), Verhoeven, A. (Aswin), Waldenberger, M. (Melanie), Würtz, P. (Peter), Davey Smith, G. (George), Metspalu, A. (Andres), Perola, M. (Markus), Menni, C. (Cristina), Geleijnse, J.M. (Johanna M.), Drenos, F. (Fotios), Beekman, M. (Marian), Jukema, J.W. (Jan Wouter), Duijn, C.M. (Cornelia) van, and Slagboom, P.E. (Eline)
Abstract: Predicting longer-term mortality risk requires collection of clinical data, which is often cumbersome. Therefore, we use a well-standardized metabolomics platform to identify metabolic predictors of long-term mortality in the circulation of 44,168 individuals (age at baseline 18–109), of whom 5512 died during follow-up. We apply a stepwise (forward-backward) procedure based on meta-analysis results and identify 14 circulating biomarkers independently associating with all-cause mortality. Overall, these associations are similar in men and women and across different age strata. We subsequently show that the prediction accuracy of 5- and 10-year mortality based on a model containing the identified biomarkers and sex (C-statistic = 0.837 and 0.830, respectively) is better than that of a model containing conventional risk factors for mortality (C-statistic = 0.772 and 0.790, respectively). The use of the identified metabolic profile as a predictor of mortality or surrogate endpoint in clinical studies needs further investigation.
Published: 2019
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61. Light management design in ultra-thin chalcopyrite photovoltaic devices by employing optical modelling

Author: UCL - SST/ICTM/ELEN - Pôle en ingénierie électrique, Kovacic, M., Krc, J., Lipovsek, B., Chen, W.-C., Edoff, M., Bolt, P.J., van Deelen, J., Zhukova, Maria, Lontchi Jioleo, Jackson, Flandre, Denis, Salomé, P., Topic, M., UCL - SST/ICTM/ELEN - Pôle en ingénierie électrique, Kovacic, M., Krc, J., Lipovsek, B., Chen, W.-C., Edoff, M., Bolt, P.J., van Deelen, J., Zhukova, Maria, Lontchi Jioleo, Jackson, Flandre, Denis, Salomé, P., and Topic, M.
Abstract: In ultra-thin chalcopyrite solar cells and photovoltaic modules, efficient light management is required to increase the photocurrent and to gain in conversion efficiency. In this work we employ optical modelling to investigate different optical approaches and quantify their potential improvements in the short-circuit current density of Cu (In, Ga)Se2 (CIGS) devices. For structures with an ultra-thin (500 nm) CIGS absorber, we study the improvements related to the introduction of (i) highly reflective metal back reflectors, (ii) internal nano-textures applied to the substrate and (iii) external micro-textures by using a light management foil. In the analysis we use CIGS devices in a PV module configuration, thus, solar cell structure including encapsulation and front glass. A thin Al2O3 layer was considered in the structure at the rear side of CIGS for passivation and diffusion barrier for metal reflectors. We show that not any individual aforementioned approach is sufficient to compensate for the short circuit drop related to ultra-thin absorber, but a combination of a highly reflective back contact and textures (internal or external) is needed to obtain and also exceed the short-circuit current density of a thick (1800 nm) CIGS absorber.
Published: 2019

62. Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Author: Chauhan, G, Adams, HHH, Satizabal, CL, Bis, JC, Teumer, A, Sargurupremraj, M, Hofer, E, Trompet, S, Hilal, S, Smith, AV, Jian, X, Malik, R, Traylor, M, Pulit, SL, Amouyel, P, Mazoyer, B, Zhu, YC, Kaffashian, S, Schilling, S, Beecham, GW, Montine, TJ, Schellenberg, GD, Kjartansson, O, Guðnason, V, Knopman, DS, Griswold, ME, Windham, BG, Gottesman, RF, Mosley, TH, Schmidt, R, Saba, Y, Schmidt, H, Takeuchi, F, Yamaguchi, S, Nabika, T, Kato, N, Rajan, KB, Aggarwal, NT, De Jager, PL, Evans, DA, Psaty, BM, Rotter, JI, Rice, K, Lopez, OL, Liao, J, Chen, C, Cheng, CY, Wong, TY, Ikram, MK, van der Lee, SJ, Amin, N, Chouraki, V, Destefano, AL, Aparicio, HJ, Romero, JR, Maillard, P, Decarli, C, Wardlaw, JM, Del C. Valdés Hernández, M, Luciano, M, Liewald, D, Deary, IJ, Starr, JM, Bastin, ME, Maniega, SM, Slagboom, PE, Beekman, M, Deelen, J, Uh, HW, Lemmens, R, Brodaty, H, Wright, MJ, Ames, D, Boncoraglio, GB, Hopewell, JC, Beecham, AH, Blanton, SH, Wright, CB, Sacco, RL, Wen, W, Thalamuthu, A, Armstrong, NJ, Chong, E, Schofield, PR, Kwok, JB, van der Grond, J, Stott, DJ, Ford, I, Jukema, JW, Vernooij, MW, Hofman, A, Uitterlinden, AG, van der Lugt, A, Wittfeld, K, Grabe, HJ, Hosten, N, von Sarnowski, B, Völker, U, Levi, C, Jimenez-Conde, J, Chauhan, G, Adams, HHH, Satizabal, CL, Bis, JC, Teumer, A, Sargurupremraj, M, Hofer, E, Trompet, S, Hilal, S, Smith, AV, Jian, X, Malik, R, Traylor, M, Pulit, SL, Amouyel, P, Mazoyer, B, Zhu, YC, Kaffashian, S, Schilling, S, Beecham, GW, Montine, TJ, Schellenberg, GD, Kjartansson, O, Guðnason, V, Knopman, DS, Griswold, ME, Windham, BG, Gottesman, RF, Mosley, TH, Schmidt, R, Saba, Y, Schmidt, H, Takeuchi, F, Yamaguchi, S, Nabika, T, Kato, N, Rajan, KB, Aggarwal, NT, De Jager, PL, Evans, DA, Psaty, BM, Rotter, JI, Rice, K, Lopez, OL, Liao, J, Chen, C, Cheng, CY, Wong, TY, Ikram, MK, van der Lee, SJ, Amin, N, Chouraki, V, Destefano, AL, Aparicio, HJ, Romero, JR, Maillard, P, Decarli, C, Wardlaw, JM, Del C. Valdés Hernández, M, Luciano, M, Liewald, D, Deary, IJ, Starr, JM, Bastin, ME, Maniega, SM, Slagboom, PE, Beekman, M, Deelen, J, Uh, HW, Lemmens, R, Brodaty, H, Wright, MJ, Ames, D, Boncoraglio, GB, Hopewell, JC, Beecham, AH, Blanton, SH, Wright, CB, Sacco, RL, Wen, W, Thalamuthu, A, Armstrong, NJ, Chong, E, Schofield, PR, Kwok, JB, van der Grond, J, Stott, DJ, Ford, I, Jukema, JW, Vernooij, MW, Hofman, A, Uitterlinden, AG, van der Lugt, A, Wittfeld, K, Grabe, HJ, Hosten, N, von Sarnowski, B, Völker, U, Levi, C, and Jimenez-Conde, J
Abstract: Objective To explore genetic and lifestyle risk factors of MRI-defined brain infarcts (BI) in large population-based cohorts. Methods We performed meta-analyses of genome-wide association studies (GWAS) and examined associations of vascular risk factors and their genetic risk scores (GRS) with MRI-defined BI and a subset of BI, namely, small subcortical BI (SSBI), in 18 population-based cohorts (n=20,949) from 5 ethnicities (3,726 with BI, 2,021 with SSBI). Top loci were followed up in 7 population-based cohorts (n = 6,862; 1,483 with BI, 630 with SBBI), and we tested associations with related phenotypes including ischemic stroke and pathologically defined BI. Results The mean prevalence was 17.7% for BI and 10.5% for SSBI, steeply rising after age 65. Two loci showed genome-wide significant association with BI: FBN2, p = 1.77 × 10-8; and LINC00539/ZDHHC20, p = 5.82 × 10-9. Both have been associated with blood pressure (BP)-related phenotypes, but did not replicate in the smaller follow-up sample or show associations with related phenotypes. Age- and sex-adjusted associations with BI and SSBI were observed for BP traits (p value for BI, p[BI] = 9.38 × 10-25; p [SSBI] = 5.23 × 10-14 for hypertension), smoking (p[BI]= 4.4 × 10-10; p [SSBI] = 1.2 × 10 -4), diabetes (p[BI] = 1.7 × 10 -8; p [SSBI] = 2.8 × 10 -3), previous cardiovascular disease (p [BI] = 1.0 × 10-18; p [SSBI] = 2.3 × 10-7), stroke (p [BI] = 3.9 × 10-69; p [SSBI] = 3.2 × 10 -24), and MRI-defined white matter hyperintensity burden (p [BI]=1.43 × 10-157; p [SSBI] = 3.16 × 10-106), but not with body mass index or cholesterol. GRS of BP traits were associated with BI and SSBI (p ≤ 0.0022), without indication of directional pleiotropy. Conclusion In this multiethnic GWAS meta-analysis, including over 20,000 population-based participants, we identified genetic risk loci for BI requiring validation once additional large datasets become available. High BP, including genetically determined, was the most significan
Published: 2019

63. Metabolomics reveals a link between homocysteine and lipid metabolism and leukocyte telomere length: the ENGAGE consortium

Author: van der Spek, Ashley, Broer, Linda, Draisma, HHM, Pool, R, Albrecht, E, Beekman, M, Mangino, M, Raag, M, Nyholt, DR, Dharuri, HK, Codd, V, Amin, Najaf, de Geus, EJC, Deelen, J, Demirkan, Ayse, Yet, I, Fischer, K, Haller, T, Henders, AK, Isaacs, A, Medland, SE, Montgomery, GW, Mooijaart, SP, Strauch, K, Suchiman, HED, Vaarhorst, AAM, van Heemst, D, Wang-Sattler, R, Whitfield, JB, Willemsen, G, Wright, MJ, Martin, NG, Samani, NJ, Metspalu, A, Slagboom, PE (Eline), Spector, TD, Boomsma, DI, Duijn, CM, Gieger, C, van der Spek, Ashley, Broer, Linda, Draisma, HHM, Pool, R, Albrecht, E, Beekman, M, Mangino, M, Raag, M, Nyholt, DR, Dharuri, HK, Codd, V, Amin, Najaf, de Geus, EJC, Deelen, J, Demirkan, Ayse, Yet, I, Fischer, K, Haller, T, Henders, AK, Isaacs, A, Medland, SE, Montgomery, GW, Mooijaart, SP, Strauch, K, Suchiman, HED, Vaarhorst, AAM, van Heemst, D, Wang-Sattler, R, Whitfield, JB, Willemsen, G, Wright, MJ, Martin, NG, Samani, NJ, Metspalu, A, Slagboom, PE (Eline), Spector, TD, Boomsma, DI, Duijn, CM, and Gieger, C
Published: 2019

64. A metabolic profile of all-cause mortality risk identified in an observational study of 44,168 individuals

Author: Deelen, J, Kettunen, J, Fischer, K, van der Spek, Ashley, Trompet, S, Kastenmuller, G, Boyd, A, Zierer, J, van den Akker, EB, Ala-Korpela, M, Amin, Najaf, Demirkan, Ayse, Ghanbari, Mohsen, van Heemst, D, Ikram, Arfan, van Klinken, JB, Mooijaart, SP, Peters, A, Salomaa, V, Sattar, N, Spector, TD, Tiemeier, Henning, Verhoeven, Adrie, Waldenberger, M, Wurtz, P, Smith, GD, Metspalu, A, Perola, M, Menni, C, Geleijnse, JM, Drenos, F, Beekman, M, Jukema, JW, Duijn, CM, Slagboom, PE (Eline), Deelen, J, Kettunen, J, Fischer, K, van der Spek, Ashley, Trompet, S, Kastenmuller, G, Boyd, A, Zierer, J, van den Akker, EB, Ala-Korpela, M, Amin, Najaf, Demirkan, Ayse, Ghanbari, Mohsen, van Heemst, D, Ikram, Arfan, van Klinken, JB, Mooijaart, SP, Peters, A, Salomaa, V, Sattar, N, Spector, TD, Tiemeier, Henning, Verhoeven, Adrie, Waldenberger, M, Wurtz, P, Smith, GD, Metspalu, A, Perola, M, Menni, C, Geleijnse, JM, Drenos, F, Beekman, M, Jukema, JW, Duijn, CM, and Slagboom, PE (Eline)
Published: 2019

65. A meta-analysis of genome-wide association studies identifies multiple longevity genes

Author: Deelen, J, Evans, DS, Arking, DE, Tesi, N, van der Spek, Ashley, Amin, Najaf, Uitterlinden, André, Duijn, Cornelia, Nygaard, M, Liu, XM, Deelen, J, Evans, DS, Arking, DE, Tesi, N, van der Spek, Ashley, Amin, Najaf, Uitterlinden, André, Duijn, Cornelia, Nygaard, M, and Liu, XM
Published: 2019

66. High deposition rate of low resistive and transparent ZnO:Al on glass with an industrial moving belt APCVD reactor

Author: Illiberi, A., Kniknie, B., Steijvers, H. L. A. H., Habets, D., Simons, P. J. P. M., Beckers, E. H. A., and van Deelen, J.
Published: 2011
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67. Expression in vitro of resistance to Heterodera schachtii in hairy roots of an alien monotelosomic addition plant of Beta vulgaris, transformed by Agrobacterium rhizogenes

Author: Paul, H., van Deelen, J. E. M., Henken, B., de Bock, Th. S. M., Lange, W., and Krens, F. A.
Published: 1990
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68. Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels

Author: van Leeuwen, E., Sabo, A., Bis, J., Huffman, J., Manichaikul, A., Smith, A., Feitosa, M., Demissie, S., Joshi, P., Duan, Q., Marten, J., van Klinken, J., Surakka, I., Nolte, I., Zhang, W., Mbarek, H., Li-Gao, R., Trompet, S., Verweij, N., Evangelou, E., Lyytikainen, L., Tayo, B., Deelen, J., van der Most, P., van der Laan, S., Arking, D., Morrison, A., Dehghan, A., Franco, O., Hofman, A., Rivadeneira, F., Sijbrands, E., Uitterlinden, A., Mychaleckyj, J., Campbell, A., Hocking, L., Padmanabhan, S., Brody, J., Rice, K., White, C., Harris, T., Isaacs, A., Campbell, H., Lange, L., Rudan, I., Kolcic, I., Navarro, P., Zemunik, T., Salomaa, V., LifeLines Cohort, S., Kooner, A., Kooner, J., Lehne, B., Scott, W., Tan, S., de Geus, E., Milaneschi, Y., Penninx, B., Willemsen, G., de Mutsert, R., Ford, I., Gansevoort, R., Segura-Lepe, M., Raitakari, O., Viikari, J., Nikus, K., Forrester, T., McKenzie, C., de Craen, A., de Ruijter, H., Group, C., Pasterkamp, G., Snieder, H., Oldehinkel, A., Slagboom, P., Cooper, R., Kahonen, M., Lehtimaki, T., Elliott, P., van der Harst, P., Jukema, J., Mook-Kanamori, D., Boomsma, D., Chambers, J., Swertz, M., Ripatti, S., Willems van Dijk, K., Vitart, V., Polasek, O., Hayward, C., Wilson, J., Gudnason, V., Rich, S., Psaty, B., Borecki, I., Boerwinkle, E., Rotter, J., Cupples, L., van Duijn, C., RS: CARIM - R1.06 - Genetic Epidemiology and Genomics of cardiovascular diseases, RS: FHML MaCSBio, Biochemie, Institute for Molecular Medicine Finland, Samuli Olli Ripatti / Principal Investigator, Clinicum, Department of Public Health, Biostatistics Helsinki, Complex Disease Genetics, Psychiatry, EMGO - Mental health, Amsterdam Neuroscience - Complex Trait Genetics, EMGO+ - Quality of Care, Biological Psychology, Nanomedicine & Drug Targeting, Life Course Epidemiology (LCE), Isotope Research, Cardiovascular Centre (CVC), Groningen Kidney Center (GKC), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Epidemiology, and Internal Medicine
Subjects: Male, 0301 basic medicine, Netherlands Twin Register (NTR), Epidemiology, Genome-wide association study, DISEASE, GLUCOSE, Genotype, Genome-wide, TRANSCRIPTION, Genetics (clinical), GENE-EXPRESSION, Genetics & Heredity, Genetics, CHREBP, 1184 Genetics, developmental biology, physiology, Exons, Fasting, 11 Medical And Health Sciences, Middle Aged, LIPID-SYNTHESIS, 3142 Public health care science, environmental and occupational health, circulating lipid levels, Female, TRIGLYCERIDES, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Journal Article, Angiopoietin-Like Protein 4, Humans, 1000 Genomes Project, Gene, Genetic association, SREBP-1C, Genome, Human, MUTATIONS, Lipid metabolism, Complex traits, 06 Biological Sciences, ELEMENT-BINDING PROTEIN, 030104 developmental biology, Human genome, triglycerides, genetic, association, Angiopoietins, Genome-Wide Studies, Imputation (genetics), Genome-Wide Association Study, LifeLines Cohort Study
Abstract: So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies (GWAS). These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we aimed to identify more new rare and low-frequency functional variants associated with circulating lipid levels.We used the 1000 Genomes Project as a reference panel for the imputations of GWAS data from ?60?000 individuals in the discovery stage and ?90?000 samples in the replication stage.Our study resulted in the identification of five new associations with circulating lipid levels at four loci. All four loci are within genes that can be linked biologically to lipid metabolism. One of the variants, rs116843064, is a damaging missense variant within the ANGPTL4 gene.This study illustrates that GWAS with high-scale imputation may still help us unravel the biological mechanism behind circulating lipid levels.Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/
Published: 2016

69. Biological interpretation of genome-wide association studies using predicted gene functions

Author: Pers TH, Karjalainen JM, Chan Y, Westra HJ, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, Frayling T, Speliotes EK, Boehnke M, Raychaudhuri S, Fehrmann RS, Hirschhorn JN, Franke L, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau Chonka DC, Day FR, Duan Y, Fall T, Fehrmann R, Ferreira T, Jackson AU, Karjalainen J, Lo KS, Locke AE, Mägi R, Mihailov E, Porcu E, Randall JC, Scherag A, Vinkhuyzen AA, Winkler TW, Workalemahu T, Zhao JH, Absher D, Albrecht E, Anderson D, Baron J, Beekman M, Demirkan A, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Fraser RM, Goel A, Gong J, Justice E, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Mangino M, Mateo Leach I, Medina Gomez C, Nalls MA, Nyholt DR, Palmer CD, Pasko D, Pechlivanis S, Prokopenko I, Ried JS, Ripke S, Shungin D, Stancáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Afzal U, Ärnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Bolton JL, Böttcher Y, Boyd HA, Bruinenberg M, Buckley BM, Buyske S, Caspersen IH, Chines PS, Clarke R, Claudi Boehm S, Cooper M, Daw EW, De Jong A, Deelen J, Delgado G, Denny JC, Dhonukshe Rutten R, Dimitriou M, Doney AS, Dörr M, Eklund N, Eury E, Folkersen L, Garcia ME, Geller F, Giedraitis V, Go AS, Grallert H, Grammer TB, Gräßler J, Grönberg H, de Groot LC, Groves CJ, Haessler J, Haller T, Hallmans G, Hannemann A, Hartman CA, Hassinen M, Hayward C, Heard Costa NL, Helmer Q, Hemani G, Henders AK, Hillege HL, Hlatky MA, Hoffmann W, Hoffmann P, Holmen O, Houwing Duistermaat JJ, Illig T, Isaacs A, James AL, Jeff J, Johansen B, Johansson Å, Jolley J, Juliusdottir T, Junttila J, Kho AN, Kinnunen L, Klopp N, Kocher T, Kratzer W, Lichtner P, Lind L, Lindström J, Lobbens S, Lorentzon M, Lu Y, Lyssenko V, Magnusson PK, Mahajan A, Maillard M, McArdle WL, McKenzie CA, McLachlan S, McLaren PJ, Menni C, Merger S, Milani L, Moayyeri A, Monda KL, Morken MA, Müller G, Müller Nurasyid M, Musk AW, Narisu N, Nauck M, Nolte IM, Nöthen MM, Oozageer L, Pilz S, Rayner NW, Renstrom F, Robertson NR, Rose LM, Roussel R, Sanna S, Scharnagl H, Scholtens S, Schumacher FR, Schunkert H, Scott RA, Sehmi J, Seufferlein T, Shi J, Silventoinen K, Smit JH, Smith AV, Smolonska J, Stanton AV, Stirrups K, Stott DJ, Stringham HM, Sundström J, Swertz MA, Syvänen AC, Tayo BO, Thorleifsson G, Tyrer JP, van Dijk S, van Schoor NM, van der Velde N, van Heemst D, van Oort FV, Vermeulen SH, Verweij N, Vonk JM, Waite LL, Waldenberger M, Wennauer R, Wilkens LR, Willenborg C, Wilsgaard T, Wojczynski MK, Wong A, Wright AF, Zhang Q, Arveiler D, Bakker SJ, Beilby J, Bergman RN, Bergmann S, Biffar R, Blangero J, Boomsma I, Bornstein SR, Bovet P, BRAMBILLA, PAOLO, Brown MJ, Campbell H, Caulfield MJ, Chakravarti A, Collins R, Collins FS, Crawford DC, Cupples LA, Danesh J, de Faire U, den Ruijter HM, Erbel R, Erdmann J, Eriksson JG, Farrall M, Ferrannini E, Ferrières J, Ford I, Forouhi NG, Forrester T, Gansevoort RT, Gejman PV, Gieger C, Golay A, Gottesman O, Gudnason V, Gyllensten U, Haas DW, Hall AS, Harris TB, Hattersley AT, Heath AC, Hengstenberg C, Hicks AA, Hindorff LA, Hingorani AD, Hofman A, Hovingh GK, Humphries SE, Hunt SC, Hypponen E, Jacobs KB, Jarvelin MR, Jousilahti P, Jula AM, Kaprio J, Kastelein JJ, Kayser M, Kee F, Keinanen Kiukaanniemi SM, Kiemeney LA, Kooner JS, Kooperberg C, Koskinen S, Kovacs P, Kraja AT, Kumari M, Kuusisto J, Lakka TA, Langenberg C, Le Marchand L, Lehtimäki T, Lupoli S, Madden PA, Männistö S, Manunta P, Marette A, Matise TC, McKnight B, Meitinger T, Moll FL, Montgomery GW, Morris AD, Morris AP, Murray JC, Nelis M, Ohlsson C, Oldehinkel AJ, Ong KK, Ouwehand WH, Pasterkamp G, Peters A, Pramstaller PP, Price JF, Qi L, Raitakari OT, Rankinen T, Rao DC, Rice TK, Ritchie M, Rudan I, Salomaa V, Samani NJ, Saramies J, Sarzynski MA, Schwarz PE, Sebert S, Sever P, Shuldiner AR, Sinisalo J, Steinthorsdottir V, Stolk RP, Tardif JC, Tönjes A, Tremblay A, Tremoli E, Virtamo J, Vohl MC, Amouyel P, Asselbergs FW, Assimes TL, Bochud M, Boehm BO, Boerwinkle E, Bottinger EP, Bouchard C, Cauchi S, Chambers JC, Chanock SJ, Cooper RS, de Bakker PI, Dedoussis G, Ferrucci L, Franks PW, Froguel P, Groop LC, Haiman CA, Hamsten A, Hayes MG, Hui J, Hunter DJ, Hveem K, Jukema JW, Kaplan RC, Kivimaki M, Kuh D, Laakso M, Liu Y, Martin NG, März W, Melbye M, Moebus S, Munroe PB, Njølstad I, Oostra BA, Palmer CN, Pedersen NL, Perola M, Pérusse L, Peters U, Powell JE, Power C, Quertermous T, Rauramaa R, Reinmaa E, Ridker PM, Rivadeneira F, Rotter JI, Saaristo TE, Saleheen D, Schlessinger D, Slagboom PE, Snieder H, Spector TD, Strauch K, Stumvoll M, Tuomilehto J, Uusitupa M, van der Harst P, Völzke H, Walker M, Wareham NJ, Watkins H, Wichmann HE, Wilson JF, Zanen P, Deloukas P, Heid IM, Lindgren CM, Mohlke KL, Thorsteinsdottir U, Barroso I, Fox CS, North KE, Strachan DP, Beckmann JS, Berndt SI, Borecki IB, McCarthy MI, Metspalu A, Stefansson K, Uitterlinden AG, van Duijn CM, Willer CJ, Price AL, Lettre G, Loos RJ, Weedon MN, Ingelsson E, O'Connell JR, Abecasis GR, Chasman DI, Goddard ME, Visscher PM, Frayling T.M., Damage and Repair in Cancer Development and Cancer Treatment (DARE), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL), Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Wood, AR., Esko, T., Yang, J., Vedantam, S., Pers, TH., Gustafsson, S., Chu, AY., Estrada, K., Luan£££Jian'an£££ J., Kutalik£££Zoltán£££ Z., Amin, N., Buchkovich, ML., Croteau-Chonka, DC., Day, FR., Duan, Y., Fall, T., Fehrmann, R., Ferreira, T., Jackson, AU., Karjalainen, J., Lo, KS., Locke, AE., Mägi, R., Mihailov, E., Porcu, E., Randall, JC., Scherag, A., Vinkhuyzen, AA., Westra, HJ., Winkler, TW., Workalemahu, T., Zhao, JH., Absher, D., Albrecht, E., Anderson, D., Baron, J., Beekman, M., Demirkan, A., Ehret, GB., Feenstra, B., Feitosa, MF., Fischer, K., Fraser, RM., Goel, A., Gong, J., Justice, E., Kanoni, S., Kleber, ME., Kristiansson, K., Lim, U., Lotay, V., Lui, JC., Mangino, M., Mateo Leach, I., Medina-Gomez, C., Nalls, MA., Nyholt, DR., Palmer, CD., Pasko, D., Pechlivanis, S., Prokopenko, I., Ried, JS., Ripke, S., Shungin, D., Stancáková, A., Strawbridge, RJ., Sung, YJ., Tanaka, T., Teumer, A., Trompet, S., van der Laan SW., van Setten, J., Van Vliet-Ostaptchouk JV., Wang, Z., Yengo£££Loïc£££ L., Zhang, W., Afzal, U., Ärnlöv, J., Arscott, GM., Bandinelli, S., Barrett, A., Bellis, C., Bennett, AJ., Berne, C., Blüher, M., Bolton, JL., Böttcher, Y., Boyd, HA., Bruinenberg, M., Buckley, BM., Buyske, S., Caspersen, IH., Chines, PS., Clarke, R., Claudi-Boehm, S., Cooper, M., Daw, EW., De Jong, A., Deelen, J., Delgado, G., Denny, JC., Dhonukshe-Rutten, R., Dimitriou, M., Doney, AS., Dörr, M., Eklund, N., Eury, E., Folkersen, L., Garcia, ME., Geller, F., Giedraitis, V., Go, AS., Grallert, H., Grammer, TB., Gräßler, J., Grönberg, H., de Groot LC., Groves, CJ., Haessler, J., Haller, T., Hallmans, G., Hannemann, A., Hartman, CA., Hassinen, M., Hayward, C., Heard-Costa, NL., Helmer, Q., Hemani, G., Henders, AK., Hillege, HL., Hlatky, MA., Hoffmann, W., Hoffmann, P., Holmen, O., Houwing-Duistermaat, JJ., Illig, T., Isaacs, A., James, AL., Jeff, J., Johansen, B., Johansson£££Åsa£££ Å., Jolley, J., Juliusdottir, T., Junttila, J., Kho, AN., Kinnunen, L., Klopp, N., Kocher, T., Kratzer, W., Lichtner, P., Lind, L., Lindström, J., Lobbens, S., Lorentzon, M., Lu, Y., Lyssenko, V., Magnusson, PK., Mahajan, A., Maillard, M., McArdle, WL., McKenzie, CA., McLachlan, S., McLaren, PJ., Menni, C., Merger, S., Milani, L., Moayyeri, A., Monda, KL., Morken, MA., Müller, G., Müller-Nurasyid, M., Musk, AW., Narisu, N., Nauck, M., Nolte, IM., Nöthen, MM., Oozageer, L., Pilz, S., Rayner, NW., Renstrom, F., Robertson, NR., Rose, LM., Roussel, R., Sanna, S., Scharnagl, H., Scholtens, S., Schumacher, FR., Schunkert, H., Scott, RA., Sehmi, J., Seufferlein, T., Shi, J., Silventoinen, K., Smit, JH., Smith, AV., Smolonska, J., Stanton, AV., Stirrups, K., Stott, DJ., Stringham, HM., Sundström, J., Swertz, MA., Syvänen, AC., Tayo, BO., Thorleifsson, G., Tyrer, JP., van Dijk, S., van Schoor NM., van der Velde, N., van Heemst, D., van Oort FV., Vermeulen, SH., Verweij, N., Vonk, JM., Waite, LL., Waldenberger, M., Wennauer, R., Wilkens, LR., Willenborg, C., Wilsgaard, T., Wojczynski, MK., Wong, A., Wright, AF., Zhang, Q., Arveiler, D., Bakker, SJ., Beilby, J., Bergman, RN., Bergmann, S., Biffar, R., Blangero, J., Boomsma, I., Bornstein, SR., Bovet, P., Brambilla, P., Brown, MJ., Campbell, H., Caulfield, MJ., Chakravarti, A., Collins, R., Collins, FS., Crawford, DC., Cupples, LA., Danesh, J., de Faire, U., den Ruijter HM., Erbel, R., Erdmann, J., Eriksson, JG., Farrall, M., Ferrannini, E., Ferrières, J., Ford, I., Forouhi, NG., Forrester, T., Gansevoort, RT., Gejman, PV., Gieger, C., Golay, A., Gottesman, O., Gudnason, V., Gyllensten, U., Haas, DW., Hall, AS., Harris, TB., Hattersley, AT., Heath, AC., Hengstenberg, C., Hicks, AA., Hindorff, LA., Hingorani, AD., Hofman, A., Hovingh, GK., Humphries, SE., Hunt, SC., Hypponen, E., Jacobs, KB., Jarvelin, MR., Jousilahti, P., Jula, AM., Kaprio, J., Kastelein, JJ., Kayser, M., Kee, F., Keinanen-Kiukaanniemi, SM., Kiemeney, LA., Kooner, JS., Kooperberg, C., Koskinen, S., Kovacs, P., Kraja, AT., Kumari, M., Kuusisto, J., Lakka, TA., Langenberg, C., Le Marchand, L., Lehtimäki, T., Lupoli, S., Madden, PA., Männistö, S., Manunta, P., Marette, A., Matise, TC., McKnight, B., Meitinger, T., Moll, FL., Montgomery, GW., Morris, AD., Morris, AP., Murray, JC., Nelis, M., Ohlsson, C., Oldehinkel, AJ., Ong, KK., Ouwehand, WH., Pasterkamp, G., Peters, A., Pramstaller, PP., Price, JF., Qi, L., Raitakari, OT., Rankinen, T., Rao, DC., Rice, TK., Ritchie, M., Rudan, I., Salomaa, V., Samani, NJ., Saramies, J., Sarzynski, MA., Schwarz, PE., Sebert, S., Sever, P., Shuldiner, AR., Sinisalo, J., Steinthorsdottir, V., Stolk, RP., Tardif, JC., Tönjes, A., Tremblay, A., Tremoli, E., Virtamo, J., Vohl, MC., Amouyel, P., Asselbergs, FW., Assimes, TL., Bochud, M., Boehm, BO., Boerwinkle, E., Bottinger, EP., Bouchard, C., Cauchi, S., Chambers, JC., Chanock, SJ., Cooper, RS., de Bakker PI., Dedoussis, G., Ferrucci, L., Franks, PW., Froguel, P., Groop, LC., Haiman, CA., Hamsten, A., Hayes, MG., Hui, J., Hunter, DJ., Hveem, K., Jukema, JW., Kaplan, RC., Kivimaki, M., Kuh, D., Laakso, M., Liu, Y., Martin, NG., März, W., Melbye, M., Moebus, S., Munroe, PB., Njølstad, I., Oostra, BA., Palmer, CN., Pedersen, NL., Perola, M., Pérusse, L., Peters, U., Powell, JE., Power, C., Quertermous, T., Rauramaa, R., Reinmaa, E., Ridker, PM., Rivadeneira, F., Rotter, JI., Saaristo, TE., Saleheen, D., Schlessinger, D., Slagboom, PE., Snieder, H., Spector, TD., Strauch, K., Stumvoll, M., Tuomilehto, J., Uusitupa, M., van der Harst, P., Völzke, H., Walker, M., Wareham, NJ., Watkins, H., Wichmann, HE., Wilson, JF., Zanen, P., Deloukas, P., Heid, IM., Lindgren, CM., Mohlke, KL., Speliotes, EK., Thorsteinsdottir, U., Barroso£££Inês£££ I., Fox, CS., North, KE., Strachan, DP., Beckmann, JS., Berndt, SI., Boehnke, M., Borecki, IB., McCarthy, MI., Metspalu, A., Stefansson, K., Uitterlinden, AG., van Duijn CM., Franke, L., Willer, CJ., Price, AL., Lettre, G., Loos, RJ., Weedon, MN., Ingelsson, E., O'Connell, JR., Abecasis, GR., Chasman, DI., Goddard, ME., Visscher, PM., Hirschhorn, JN., Frayling, TM., Clinicum, Jaakko Kaprio / Principal Investigator, Department of Public Health, Institute for Molecular Medicine Finland, Genetic Epidemiology, Pers, T, Karjalainen, J, Chan, Y, Westra, H, Wood, A, Yang, J, Lui, J, Vedantam, S, Gustafsson, S, Esko, T, Frayling, T, Speliotes, E, Boehnke, M, Raychaudhuri, S, Fehrmann, R, Hirschhorn, J, Franke, L, Chu, A, Estrada, K, Luan, J, Kutalik, Z, Amin, N, Buchkovich, M, Croteau Chonka, D, Day, F, Duan, Y, Fall, T, Ferreira, T, Jackson, A, Lo, K, Locke, A, Mägi, R, Mihailov, E, Porcu, E, Randall, J, Scherag, A, Vinkhuyzen, A, Winkler, T, Workalemahu, T, Zhao, J, Absher, D, Albrecht, E, Anderson, D, Baron, J, Beekman, M, Demirkan, A, Ehret, G, Feenstra, B, Feitosa, M, Fischer, K, Fraser, R, Goel, A, Gong, J, Justice, E, Kanoni, S, Kleber, M, Kristiansson, K, Lim, U, Lotay, V, Mangino, M, Mateo Leach, I, Medina Gomez, C, Nalls, M, Nyholt, D, Palmer, C, Pasko, D, Pechlivanis, S, Prokopenko, I, Ried, J, Ripke, S, Shungin, D, Stancáková, A, Strawbridge, R, Sung, Y, Tanaka, T, Teumer, A, Trompet, S, van der Laan, S, van Setten, J, Van Vliet Ostaptchouk, J, Wang, Z, Yengo, L, Zhang, W, Afzal, U, Ärnlöv, J, Arscott, G, Bandinelli, S, Barrett, A, Bellis, C, Bennett, A, Berne, C, Blüher, M, Bolton, J, Böttcher, Y, Boyd, H, Bruinenberg, M, Buckley, B, Buyske, S, Caspersen, I, Chines, P, Clarke, R, Claudi Boehm, S, Cooper, M, Daw, E, De Jong, A, Deelen, J, Delgado, G, Denny, J, Dhonukshe Rutten, R, Dimitriou, M, Doney, A, Dörr, M, Eklund, N, Eury, E, Folkersen, L, Garcia, M, Geller, F, Giedraitis, V, Go, A, Grallert, H, Grammer, T, Gräßler, J, Grönberg, H, de Groot, L, Groves, C, Haessler, J, Haller, T, Hallmans, G, Hannemann, A, Hartman, C, Hassinen, M, Hayward, C, Heard Costa, N, Helmer, Q, Hemani, G, Henders, A, Hillege, H, Hlatky, M, Hoffmann, W, Hoffmann, P, Holmen, O, Houwing Duistermaat, J, Illig, T, Isaacs, A, James, A, Jeff, J, Johansen, B, Johansson, Å, Jolley, J, Juliusdottir, T, Junttila, J, Kho, A, Kinnunen, L, Klopp, N, Kocher, T, Kratzer, W, Lichtner, P, Lind, L, Lindström, J, Lobbens, S, Lorentzon, M, Lu, Y, Lyssenko, V, Magnusson, P, Mahajan, A, Maillard, M, Mcardle, W, Mckenzie, C, Mclachlan, S, Mclaren, P, Menni, C, Merger, S, Milani, L, Moayyeri, A, Monda, K, Morken, M, Müller, G, Müller Nurasyid, M, Musk, A, Narisu, N, Nauck, M, Nolte, I, Nöthen, M, Oozageer, L, Pilz, S, Rayner, N, Renstrom, F, Robertson, N, Rose, L, Roussel, R, Sanna, S, Scharnagl, H, Scholtens, S, Schumacher, F, Schunkert, H, Scott, R, Sehmi, J, Seufferlein, T, Shi, J, Silventoinen, K, Smit, J, Smith, A, Smolonska, J, Stanton, A, Stirrups, K, Stott, D, Stringham, H, Sundström, J, Swertz, M, Syvänen, A, Tayo, B, Thorleifsson, G, Tyrer, J, van Dijk, S, van Schoor, N, van der Velde, N, van Heemst, D, van Oort, F, Vermeulen, S, Verweij, N, Vonk, J, Waite, L, Waldenberger, M, Wennauer, R, Wilkens, L, Willenborg, C, Wilsgaard, T, Wojczynski, M, Wong, A, Wright, A, Zhang, Q, Arveiler, D, Bakker, S, Beilby, J, Bergman, R, Bergmann, S, Biffar, R, Blangero, J, Boomsma, I, Bornstein, S, Bovet, P, Brambilla, P, Brown, M, Campbell, H, Caulfield, M, Chakravarti, A, Collins, R, Collins, F, Crawford, D, Cupples, L, Danesh, J, de Faire, U, den Ruijter, H, Erbel, R, Erdmann, J, Eriksson, J, Farrall, M, Ferrannini, E, Ferrières, J, Ford, I, Forouhi, N, Forrester, T, Gansevoort, R, Gejman, P, Gieger, C, Golay, A, Gottesman, O, Gudnason, V, Gyllensten, U, Haas, D, Hall, A, Harris, T, Hattersley, A, Heath, A, Hengstenberg, C, Hicks, A, Hindorff, L, Hingorani, A, Hofman, A, Hovingh, G, Humphries, S, Hunt, S, Hypponen, E, Jacobs, K, Jarvelin, M, Jousilahti, P, Jula, A, Kaprio, J, Kastelein, J, Kayser, M, Kee, F, Keinanen Kiukaanniemi, S, Kiemeney, L, Kooner, J, Kooperberg, C, Koskinen, S, Kovacs, P, Kraja, A, Kumari, M, Kuusisto, J, Lakka, T, Langenberg, C, Le Marchand, L, Lehtimäki, T, Lupoli, S, Madden, P, Männistö, S, Manunta, P, Marette, A, Matise, T, Mcknight, B, Meitinger, T, Moll, F, Montgomery, G, Morris, A, Murray, J, Nelis, M, Ohlsson, C, Oldehinkel, A, Ong, K, Ouwehand, W, Pasterkamp, G, Peters, A, Pramstaller, P, Price, J, Qi, L, Raitakari, O, Rankinen, T, Rao, D, Rice, T, Ritchie, M, Rudan, I, Salomaa, V, Samani, N, Saramies, J, Sarzynski, M, Schwarz, P, Sebert, S, Sever, P, Shuldiner, A, Sinisalo, J, Steinthorsdottir, V, Stolk, R, Tardif, J, Tönjes, A, Tremblay, A, Tremoli, E, Virtamo, J, Vohl, M, Amouyel, P, Asselbergs, F, Assimes, T, Bochud, M, Boehm, B, Boerwinkle, E, Bottinger, E, Bouchard, C, Cauchi, S, Chambers, J, Chanock, S, Cooper, R, de Bakker, P, Dedoussis, G, Ferrucci, L, Franks, P, Froguel, P, Groop, L, Haiman, C, Hamsten, A, Hayes, M, Hui, J, Hunter, D, Hveem, K, Jukema, J, Kaplan, R, Kivimaki, M, Kuh, D, Laakso, M, Liu, Y, Martin, N, März, W, Melbye, M, Moebus, S, Munroe, P, Njølstad, I, Oostra, B, Pedersen, N, Perola, M, Pérusse, L, Peters, U, Powell, J, Power, C, Quertermous, T, Rauramaa, R, Reinmaa, E, Ridker, P, Rivadeneira, F, Rotter, J, Saaristo, T, Saleheen, D, Schlessinger, D, Slagboom, P, Snieder, H, Spector, T, Strauch, K, Stumvoll, M, Tuomilehto, J, Uusitupa, M, van der Harst, P, Völzke, H, Walker, M, Wareham, N, Watkins, H, Wichmann, H, Wilson, J, Zanen, P, Deloukas, P, Heid, I, Lindgren, C, Mohlke, K, Thorsteinsdottir, U, Barroso, I, Fox, C, North, K, Strachan, D, Beckmann, J, Berndt, S, Borecki, I, Mccarthy, M, Metspalu, A, Stefansson, K, Uitterlinden, A, van Duijn, C, Willer, C, Price, A, Lettre, G, Loos, R, Weedon, M, Ingelsson, E, O'Connell, J, Abecasis, G, Chasman, D, Goddard, M, Visscher, P, APH - Amsterdam Public Health, AMS - Amsterdam Movement Sciences, Geriatrics, Other departments, ACS - Amsterdam Cardiovascular Sciences, Vascular Medicine, Pers, Th, Karjalainen, Jm, Westra, Hj, Wood, Ar, Lui, Jc, Speliotes, Ek, Hirschhorn, Jn, and Faculty of Health Sciences
Subjects: Cell type, Candidate gene, BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA, LOCI, General Physics and Astronomy, Genome-wide association study, Disease, Computational biology, Biology, Research Support, General Biochemistry, Genetics and Molecular Biology, Article, DISEASE, N.I.H, CANDIDATE GENES, Genome-Wide Association Study/methods, Software, HEIGHT, Research Support, N.I.H., Extramural, Genetics, Journal Article, NETWORK, Non-U.S. Gov't, Gene, COMMON, Intramural, ARCHITECTURE, Biochemistry, Genetics and Molecular Biology (all), Multidisciplinary, IDENTIFICATION, ta1184, Research Support, Non-U.S. Gov't, Gene sets, Extramural, General Chemistry, ta3121, Research Support, N.I.H., Intramural, Phenotype, 3142 Public health care science, environmental and occupational health, Biological sciences, DATA SETS, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Identification (biology), INTEGRATION, Genome-Wide Association Study
Abstract: Article, The main challenge for gaining biological insights from genetic associations is identifying which genes and pathways explain the associations. Here we present DEPICT, an integrative tool that employs predicted gene functions to systematically prioritize the most likely causal genes at associated loci, highlight enriched pathways and identify tissues/cell types where genes from associated loci are highly expressed. DEPICT is not limited to genes with established functions and prioritizes relevant gene sets for many phenotypes., published version, http://purl.org/eprint/status/PeerReviewed
Published: 2015

70. Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels

Author: Jiang, X., O'Reilly, P.F., Aschard, H., Hsu, Y.H., Richards, J.B., Dupuis, J., Ingelsson, E., Karasik, D., Pilz, S., Berry, D., Kestenbaum, B., Zheng, J.S., Luan, J.N., Sofianopoulou, E., Streeten, E.A., Albanes, D., Lutsey, P.L., Yao, L., Tang, W.H., Econs, M.J., Wallaschofski, H., Volzke, H., Zhou, A., Power, C., McCarthy, M.I., Michos, E.D., Boerwinkle, E., Weinstein, S.J., Freedman, N.D., Huang, W.Y., Schoor, N.M. van, Velde, N. van der, Groot, L.C.P.G.M. de, Enneman, A., Cupples, L.A., Booth, S.L., Vasan, R.S., Liu, C.T., Zhou, Y.H., Ripatti, S., Ohlsson, C., Vandenput, L., Lorentzon, M., Eriksson, J.G., Shea, M.K., Houston, D.K., Kritchevsky, S.B., Liu, Y.M., Lohman, K.K., Ferrucci, L., Peacock, M., Gieger, C., Beekman, M., Slagboom, E., Deelen, J., Heemst, D. van, Kleber, M.E., Marz, W., Boer, I.H. de, Wood, A.C., Rotter, J.I., Rich, S.S., Robinson-Cohen, C., Heijer, M. den, Jarvelin, M.R., Cavadino, A., Joshi, P.K., Wilson, J.F., Hayward, C., Lind, L., Michaelsson, K., Trompet, S., Zillikens, M.C., Uitterlinden, A.G., Rivadeneira, F., Broer, L., Zgaga, L., Campbell, H., Theodoratou, E., Farrington, S.M., Timofeeva, M., Dunlop, M.G., Valdes, A.M., Tikkanen, E., Lehtimaki, T., Lyytikainen, L.P., Kahonen, M., Raitakari, O.T., Mikkila, V., Ikram, M.A., Sattar, N., Jukema, J.W., Wareham, N.J., Langenberg, C., Forouhi, N.G., Gundersen, T.E., Khaw, K.T., Butterworth, A.S., Danesh, J., Spector, T., Wang, T.J., Hypponen, E., Kraft, P., and Kiel, D.P.
Published: 2018

71. Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels

Author: Jiang, X. (Xia), O'Reilly, P. F. (Paul F.), Aschard, H. (Hugues), Hsu, Y.-H. (Yi-Hsiang), Richards, J. B. (J. Brent), Dupuis, J. (Josee), Ingelsson, E. (Erik), Karasik, D. (David), Pilz, S. (Stefan), Berry, D. (Diane), Kestenbaum, B. (Bryan), Zheng, J. (Jusheng), Luan, J. (Jianan), Sofianopoulou, E. (Eleni), Streeten, E. A. (Elizabeth A.), Albanes, D. (Demetrius), Lutsey, P. L. (Pamela L.), Yao, L. (Lu), Tang, W. (Weihong), Econs, M. J. (Michael J.), Wallaschofski, H. (Henri), Voelzke, H. (Henry), Zhou, A. (Ang), Power, C. (Chris), McCarthy, M. I. (Mark I.), Michos, E. D. (Erin D.), Boerwinkle, E. (Eric), Weinstein, S. J. (Stephanie J.), Freedman, N. D. (Neal D.), Huang, W.-Y. (Wen-Yi), Van Schoor, N. M. (Natasja M.), van der Velde, N. (Nathalie), de Groot, L. C. (Lisette C. P. G. M.), Enneman, A. (Anke), Cupples, L. A. (L. Adrienne), Booth, S. L. (Sarah L.), Vasan, R. S. (Ramachandran S.), Liu, C.-T. (Ching-Ti), Zhou, Y. (Yanhua), Ripatti, S. (Samuli), Ohlsson, C. (Claes), Vandenput, L. (Liesbeth), Lorentzon, M. (Mattias), Eriksson, J. G. (Johan G.), Shea, M. K. (M. Kyla), Houston, D. K. (Denise K.), Kritchevsky, S. B. (Stephen B.), Liu, Y. (Yongmei), Lohman, K. K. (Kurt K.), Ferrucci, L. (Luigi), Peacock, M. (Munro), Gieger, C. (Christian), Beekman, M. (Marian), Slagboom, E. (Eline), Deelen, J. (Joris), van Heemst, D. (Diana), Kleber, M. E. (Marcus E.), Maerz, W. (Winfried), de Boer, I. H. (Ian H.), Wood, A. C. (Alexis C.), Rotter, J. I. (Jerome I.), Rich, S. S. (Stephen S.), Robinson-Cohen, C. (Cassianne), den Heijer, M. (Martin), Järvelin, M.-R. (Marjo-Riitta), Cavadino, A. (Alana), Joshi, P. K. (Peter K.), Wilson, J. F. (James F.), Hayward, C. (Caroline), Lind, L. (Lars), Michaelsson, K. (Karl), Trompet, S. (Stella), Zillikens, M. C. (M. Carola), Uitterlinden, A. G. (Andre G.), Rivadeneira, F. (Fernando), Broer, L. (Linda), Zgaga, L. (Lina), Campbell, H. (Harry), Theodoratou, E. (Evropi), Farrington, S. M. (Susan M.), Timofeeva, M. (Maria), Dunlop, M. G. (Malcolm G.), Valdes, A. M. (Ana M.), Tikkanen, E. (Emmi), Lehtimaki, T. (Terho), Lyytikainen, L.-P. (Leo-Pekka), Kahonen, M. (Mika), Raitakari, O. T. (Olli T.), Mikkila, V. (Vera), Ikram, M. A. (M. Arfan), Sattar, N. (Naveed), Jukema, J. W. (J. Wouter), Wareham, N. J. (Nicholas J.), Langenberg, C. (Claudia), Forouhi, N. G. (Nita G.), Gundersen, T. E. (Thomas E.), Khaw, K.-T. (Kay-Tee), Butterworth, A. S. (Adam S.), Danesh, J. (John), Spector, T. (Timothy), Wang, T. J. (Thomas J.), Hypponen, E. (Elina), Kraft, P. (Peter), and Kiel, D. P. (Douglas P.)
Subjects: Risk factors, Epidemiology, Genetics research, Genome-wide association studies
Abstract: Vitamin D is a steroid hormone precursor that is associated with a range of human traits and diseases. Previous GWAS of serum 25-hydroxyvitamin D concentrations have identified four genome-wide significant loci (GC, NADSYN1/DHCR7, CYP2R1, CYP24A1). In this study, we expand the previous SUNLIGHT Consortium GWAS discovery sample size from 16,125 to 79,366 (all European descent). This larger GWAS yields two additional loci harboring genome-wide significant variants (P = 4.7×10−9 at rs8018720 in SEC23A, and P = 1.9×10−14 at rs10745742 in AMDHD1). The overall estimate of heritability of 25-hydroxyvitamin D serum concentrations attributable to GWAS common SNPs is 7.5%, with statistically significant loci explaining 38% of this total. Further investigation identifies signal enrichment in immune and hematopoietic tissues, and clustering with autoimmune diseases in cell-type-specific analysis. Larger studies are required to identify additional common SNPs, and to explore the role of rare or structural variants and gene–gene interactions in the heritability of circulating 25-hydroxyvitamin D levels.
Published: 2018

72. Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

Author: EVANGELOU, E., WARREN, H. R., MOSEN-ANSORENA, D., MIFSUD, B., PAZOKI, R., Gao, H., NTRITSOS, G., DIMOU, N., CABRERA, C. P., Karaman, I., NG, F. L., Evangelou, M., WITKOWSKA, K., TZANIS, E., HELLWEGE, J. N., Giri, A., VELEZ EDWARDS, D. R., Sun, Y. V., Cho, K., GAZIANO, J. M., WILSON, P. W. F., TSAO, P. S., Kovesdy, C. P., ESKO, T., MAGI, R., Milani, L., Almgren, P., Boutin, T., Debette, Stéphanie, Ding, J., GIULIANINI, F., HOLLIDAY, E. G., JACKSON, A. U., LI-GAO, R., LIN, W. Y., Luan, J., Mangino, M., OLDMEADOW, C., PRINS, B. P., Qian, Y., Sargurupremraj, Muralidharan, Shah, N., SURENDRAN, P., THERIAULT, S., VERWEIJ, N., WILLEMS, S. M., Zhao, J. H., Amouyel, P., Connell, J., DE MUTSERT, R., DONEY, A. S. F., Farrall, M., MENNI, C., NOORDAM, R., Pare, G., POULTER, N. R., SHIELDS, D. C., STANTON, A., THOM, S., ABECASIS, G., Amin, N., ARKING, D. E., Ayers, K. L., BARBIERI, C. M., Batini, C., BIS, J. C., Blake, T., Bochud, M., Boehnke, M., BOERWINKLE, E., Boomsma, D. I., BOTTINGER, E. P., BRAUND, P. S., BRUMAT, M., Campbell, A., Campbell, H., Chakravarti, A., CHAMBERS, J. C., Chauhan, Ganesh, Ciullo, M., COCCA, M., Collins, F., CORDELL, H. J., Davies, G., DE BORST, M. H., DE GEUS, E. J., DEARY, I. J., DEELEN, J., DEL GRECO, M. F., DEMIRKALE, C. Y., DORR, M., EHRET, G. B., ELOSUA, R., ENROTH, S., ERZURUMLUOGLU, A. M., Ferreira, T., Franberg, M., FRANCO, O. H., GANDIN, I., Gasparini, P., GIEDRAITIS, V., Gieger, C., GIROTTO, G., Goel, A., GOW, A. J., GUDNASON, V., Guo, X., GYLLENSTEN, U., HAMSTEN, A., HARRIS, T. B., Harris, S. E., HARTMAN, C. A., HAVULINNA, A. S., HICKS, A. A., Hofer, E., Hofman, A., HOTTENGA, J. J., HUFFMAN, J. E., Hwang, S. J., INGELSSON, E., James, A., Jansen, R., JARVELIN, M. R., JOEHANES, R., Johansson, A., JOHNSON, A. D., Joshi, P. K., JOUSILAHTI, P., JUKEMA, J. W., JULA, A., KAHONEN, M., KATHIRESAN, S., KEAVNEY, B. D., Khaw, K. T., KNEKT, P., Knight, J., KOLCIC, I., KOONER, J. S., KOSKINEN, S., KRISTIANSSON, K., KUTALIK, Z., Laan, M., Larson, M., LAUNER, L. J., LEHNE, B., LEHTIMAKI, T., LIEWALD, D. C. M., Lin, L., LIND, L., LINDGREN, C. M., Liu, Y., LOOS, R. J. F., LOPEZ, L. M., Lu, Y., LYYTIKAINEN, L. P., Mahajan, A., MAMASOULA, C., MARRUGAT, J., MARTEN, J., MILANESCHI, Y., Morgan, A., MORRIS, A. D., MORRISON, A. C., MUNSON, P. J., Nalls, M. A., NANDAKUMAR, P., NELSON, C. P., NIIRANEN, T., Nolte, I. M., Nutile, T., Oldehinkel, A. J., Oostra, B. A., O'REILLY, P. F., ORG, E., PADMANABHAN, S., PALMAS, W., Palotie, A., PATTIE, A., PENNINX, Bwjh, Perola, M., Peters, A., POLASEK, O., PRAMSTALLER, P. P., Nguyen, Q. T., RAITAKARI, O. T., REN, M., Rettig, R., Rice, K., RIDKER, P. M., RIED, J. S., RIESE, H., RIPATTI, S., ROBINO, A., ROSE, L. M., ROTTER, J. I., RUDAN, I., Ruggiero, D., SABA, Y., SALA, C. F., SALOMAA, V., SAMANI, N. J., SARIN, A. P., Schmidt, R., Schmidt, H., SHRINE, N., SISCOVICK, D., SMITH, A. V., SNIEDER, H., SOBER, S., Sorice, R., STARR, J. M., STOTT, D. J., Strachan, D. P., STRAWBRIDGE, R. J., SUNDSTROM, J., SWERTZ, M. A., TAYLOR, K. D., TEUMER, A., TOBIN, M. D., TOMASZEWSKI, M., TONIOLO, D., TRAGLIA, M., TROMPET, S., TUOMILEHTO, J., Tzourio, Christophe, UITTERLINDEN, A. G., VAEZ, A., VAN DER MOST, P. J., VAN DUIJN, C. M., VERGNAUD, A. C., VERWOERT, G. C., Vitart, V., VOLKER, U., Vollenweider, P., VUCKOVIC, D., WATKINS, H., WILD, S. H., Willemsen, G., WILSON, J. F., WRIGHT, A. F., Yao, J., ZEMUNIK, T., Zhang, W., ATTIA, J. R., BUTTERWORTH, A. S., Chasman, D. I., CONEN, D., Cucca, F., DANESH, J., Hayward, C., HOWSON, J. M. M., Laakso, M., LAKATTA, E. G., Langenberg, C., MELANDER, O., MOOK-KANAMORI, D. O., PALMER, C. N. A., Risch, L., SCOTT, R. A., SEVER, P., SPECTOR, T. D., Van Der Harst, P., Wareham, N. J., Zeggini, E., Levy, D., MUNROE, P. B., NEWTON-CHEH, C., Brown, M. J., Metspalu, A., HUNG, A. M., O'DONNELL, C. J., EDWARDS, T. L., PSATY, B. M., TZOULAKI, I., BARNES, M. R., WAIN, L. V., Elliott, P., CAULFIELD, M. J., Bordeaux population health (BPH), and Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: VINTAGE, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, HEALTHY
Abstract: In the version of this article originally published, the name of author Martin H. de Borst was coded incorrectly in the XML. The error has now been corrected in the HTML version of the paper.
Published: 2018

73. A SNP panel for identification of DNA and RNA specimens

Author: Yousefi, Soheil, Abbassi-Daloii, Tooba, Kraaijenbrink, Thirsa, Vermaat, Martijn, Mei, Hailiang, van't Hof, Peter, van Iterson, Maarten, Zhernakova, Daria V., Claringbould, Annique, Franke, Lude, 't Hart, Leen M., Slieker, Roderick C., van der Heijden, Amber, de Knijff, Peter, 't Hoen, Peter A. C., Jansen, R., van Meurs, J., Heijmans, B.T., Boomsma, D.I., van Dongen, J., Hottenga, Jouke-Jan, Slagboom, P.E., Suchiman, H. Eka D., van Zwet, Erik W., 't Hoen, P., Pool, R., van Greevenbroek, Marleen, Stehouwer, Coen, van der Kallen, Carla, Schalkwijk, Casper, Wijmenga, C., Zhernakova, A., Tigchelaar, E.F., Beekman, M, Deelen, J, van Heemst, D., Veldink, J H., van den Berg, L.H., van Duijn, C.M., Hofman, B. A., Uitterlinden, A. G., Jhamai, P. Mila, Verbiest, M., Verkerk, M., van der Breggen, Ruud, van Rooij, J., Lakenberg, N., Mei, H., Bot, J., Zhernakova, D. V., Van't Hof, P., Deelen, P., Nooren, I., Moed, M., Vermaat, M., Bonder, M.J., van Dijk, F., van Galen, M., Arindrarto, Wibowo, Kielbasa, Szymon M., Swertz, Morris A., Isaacs, A., Franke, L., Biological Psychology, APH - Mental Health, APH - Methodology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL), Epidemiology and Data Science, APH - Aging & Later Life, General practice, Amsterdam Neuroscience - Complex Trait Genetics, Psychiatry, RS: CARIM - R3.01 - Vascular complications of diabetes and the metabolic syndrome, Interne Geneeskunde, MUMC+: HVC Pieken Maastricht Studie (9), and MUMC+: MA Interne Geneeskunde (3)
Subjects: 0301 basic medicine, Netherlands Twin Register (NTR), BLOOD, INDIVIDUAL IDENTIFICATION, Individuality, Linkage Disequilibrium, 0302 clinical medicine, Gene Frequency, MARKERS, Genotype, Ethnicity, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Mix up samples, Genetics, education.field_of_study, CODIS CORE LOCI, High-Throughput Nucleotide Sequencing, 16. Peace & justice, Justice and Strong Institutions, DNA profiling, POPULATIONS, DNA microarray, MESSENGER-RNA, Biotechnology, Research Article, Biobanking, Patient Identification Systems, SDG 16 - Peace, lcsh:QH426-470, lcsh:Biotechnology, Population, UNITED-STATES, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, VALIDATION, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, lcsh:TP248.13-248.65, Journal Article, SNP, Humans, 030216 legal & forensic medicine, Genetic Testing, Genetic variation, education, Genotyping, Forensics, SDG 16 - Peace, Justice and Strong Institutions, DNA, DNA Fingerprinting, Minor allele frequency, FORENSIC IDENTIFICATION, lcsh:Genetics, 030104 developmental biology, Genetics, Population, RNA, MULTIPLEX, Sample tracking, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]
Abstract: Background SNP panels that uniquely identify an individual are useful for genetic and forensic research. Previously recommended SNP panels are based on DNA profiles and mostly contain intragenic SNPs. With the increasing interest in RNA expression profiles, we aimed for establishing a SNP panel for both DNA and RNA-based genotyping. Results To determine a small set of SNPs with maximally discriminative power, genotype calls were obtained from DNA and blood-derived RNA sequencing data belonging to healthy, geographically dispersed, Dutch individuals. SNPs were selected based on different criteria like genotype call rate, minor allele frequency, Hardy–Weinberg equilibrium and linkage disequilibrium. A panel of 50 SNPs was sufficient to identify an individual uniquely: the probability of identity was 6.9 × 10− 20 when assuming no family relations and 1.2 × 10− 10 when accounting for the presence of full sibs. The ability of the SNP panel to uniquely identify individuals on DNA and RNA level was validated in an independent population dataset. The panel is applicable to individuals from European descent, with slightly lower power in non-Europeans. Whereas most of the genes containing the 50 SNPs are expressed in various tissues, our SNP panel needs optimization for other tissues than blood. Conclusions This first DNA/RNA SNP panel will be useful to identify sample mix-ups in biomedical research and for assigning DNA and RNA stains in crime scenes to unique individuals. Electronic supplementary material The online version of this article (10.1186/s12864-018-4482-7) contains supplementary material, which is available to authorized users.
Published: 2018

74. Light management design in ultra-thin chalcopyrite photovoltaic devices by employing optical modelling

Author: Kovacic, M., primary, Krc, J., additional, Lipovsek, B., additional, Chen, W.-C., additional, Edoff, M., additional, Bolt, P.J., additional, van Deelen, J., additional, Zhukova, M., additional, Lontchi, J., additional, Flandre, D., additional, Salomé, P., additional, and Topic, M., additional
Published: 2019
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75. DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation

Author: Richard, MA, Huan, T, Ligthart, S, Gondalia, R, Jhun, MA, Brody, JA, Irvin, MR, Marioni, R, Shen, J, Tsai, PC, Montasser, ME, Jia, Y, Syme, C, Salfati, EL, Boerwinkle, E, Guan, W, Mosley, TH, Bressler, J, Morrison, AC, Liu, C, Mendelson, MM, Uitterlinden, AG, van Meurs, JB, Heijmans, BT, ’t Hoen, PAC, van Meurs, J, Isaacs, A, Jansen, R, Franke, L, Boomsma, DI, Pool, R, van Dongen, J, Hottenga, JJ, van Greevenbroek, MMJ, Stehouwer, CDA, van der Kallen, CJH, Schalkwijk, CG, Wijmenga, C, Zhernakova, A, Tigchelaar, EF, Slagboom, PE, Beekman, M, Deelen, J, van Heemst, D, Veldink, JH, van den Berg, LH, van Duijn, CM, Hofman, A, Jhamai, PM, Verbiest, M, Suchiman, HED, Verkerk, M, van der Breggen, R, van Rooij, J, Lakenberg, N, Mei, H, van Iterson, M, van Galen, M, Bot, J, van ’t Hof, P, Deelen, P, Nooren, I, Moed, M, Vermaat, M, Zhernakova, DV, Luijk, R, Bonder, MJ, van Dijk, F, Arindrarto, W, Kielbasa, SM, Swertz, MA, van Zwet, EW, Franco, OH, Zhang, G, Li, Y, Stewart, JD, Bis, JC, Psaty, BM, Chen, YDI, Kardia, SLR, Zhao, W, Turner, ST, Absher, D, Aslibekyan, S, and Starr, JM
Abstract: © 2017 American Society of Human Genetics Genome-wide association studies have identified hundreds of genetic variants associated with blood pressure (BP), but sequence variation accounts for a small fraction of the phenotypic variance. Epigenetic changes may alter the expression of genes involved in BP regulation and explain part of the missing heritability. We therefore conducted a two-stage meta-analysis of the cross-sectional associations of systolic and diastolic BP with blood-derived genome-wide DNA methylation measured on the Infinium HumanMethylation450 BeadChip in 17,010 individuals of European, African American, and Hispanic ancestry. Of 31 discovery-stage cytosine-phosphate-guanine (CpG) dinucleotides, 13 replicated after Bonferroni correction (discovery: N = 9,828, p < 1.0 × 10−7; replication: N = 7,182, p < 1.6 × 10−3). The replicated methylation sites are heritable (h2 > 30%) and independent of known BP genetic variants, explaining an additional 1.4% and 2.0% of the interindividual variation in systolic and diastolic BP, respectively. Bidirectional Mendelian randomization among up to 4,513 individuals of European ancestry from 4 cohorts suggested that methylation at cg08035323 (TAF1B-YWHAQ) influences BP, while BP influences methylation at cg00533891 (ZMIZ1), cg00574958 (CPT1A), and cg02711608 (SLC1A5). Gene expression analyses further identified six genes (TSPAN2, SLC7A11, UNC93B1, CPT1A, PTMS, and LPCAT3) with evidence of triangular associations between methylation, gene expression, and BP. Additional integrative Mendelian randomization analyses of gene expression and DNA methylation suggested that the expression of TSPAN2 is a putative mediator of association between DNA methylation at cg23999170 and BP. These findings suggest that heritable DNA methylation plays a role in regulating BP independently of previously known genetic variants.
Published: 2017

76. Facial Wrinkles in Europeans: A Genome-Wide Association Study

Author: Hamer, M.A. (Merel), Pardo Cortes, L.M. (Luba), Jacobs, L.C. (Leonie), Deelen, J. (Joris), Uitterlinden, A.G. (André), Slagboom, P.E. (Eline), Heemst, D. (Diana) van, Uh, H.-W. (Hae-Won), Beekman, M. (Marian), Kayser, M.H. (Manfred), Liu, F. (Fan), Gunn, D.A. (David), Nijsten, T.E.C. (Tamar), Hamer, M.A. (Merel), Pardo Cortes, L.M. (Luba), Jacobs, L.C. (Leonie), Deelen, J. (Joris), Uitterlinden, A.G. (André), Slagboom, P.E. (Eline), Heemst, D. (Diana) van, Uh, H.-W. (Hae-Won), Beekman, M. (Marian), Kayser, M.H. (Manfred), Liu, F. (Fan), Gunn, D.A. (David), and Nijsten, T.E.C. (Tamar)
Published: 2018
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77. Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation

Author: Luijk, R. (René), Wu, H. (Haoyu), Ward-Caviness, C.K. (Cavin K.), Hannon, E. (Eilis), Carnero-Montoro, E. (Elena), Min, J. (Josine), Mandaviya, P.R. (Pooja), Müller-Nurasyid, M. (Martina), Mei, H. (Hailiang), Maarel, S.M. (Silvre) van der, Beekman, M. (Marian), der Breggen, R. (Ruud van), Deelen, J. (Joris), Lakenberg, N. (Nico), Moed, H. (Heleen), Suchiman, H.E.D. (Eka), Arindrarto, W. (Wibowo), van’t Hof, P. (Peter), Jan Bonder, M. (Marc), Deelen, P. (Patrick), Tigchelaar, E.F. (Ettje F.), Zhernakova, A. (Alexandra), Zhernakova, D.V. (Dasha V.), Dongen, J. (Jenny) van, Hottenga, J.J. (Jouke Jan), Pool, R. (Reńe), Isaacs, A. (Aaron), Hofman, B.A. (Bert A.), Jhamai, M. (Mila), Kallen, C.J. van der, Schalkwijk, C.G. (Casper), Stehouwer, C.D. (Coen), Berg, L.H. (Leonard) van den, Van Galen, M. (Michiel), Vermaat, M. (Martijn), van Rooij, J. (Jeroen), Uitterlinden, A.G. (André), Verbiest, M.M.P.J. (Michael), Verkerk, M. (Marijn), Kielbasa, P.S.M. (P. Szymon M.), Bot, J.J. (Jan), Nooren, I. (Irene), Dijk, F. (Freerk) van, Swertz, M.A. (Morris A.), Heemst, D. (Diana) van, Relton, C.L. (Caroline), Mill, J. (Jonathan), Waldenberger, M. (Melanie), Bell, J.T. (Jordana T.), Jansen, R. (Rick), Franke, L. (Lude), ‘t Hoen, P.A.C. (Peter A. C.), Boomsma, D.I. (Dorret), Duijn, C.M. (Cornelia) van, Greevenbroek, M.M. van, Veldink, J.H. (Jan), Wijmenga, C. (Cisca), Meurs, J.B.J. (Joyce) van, Daxinger, L. (Lucia), Slagboom, P.E. (Eline), Zwet, E.W. (Erik) van, Heijmans, B.T. (Bastiaan T.), Luijk, R. (René), Wu, H. (Haoyu), Ward-Caviness, C.K. (Cavin K.), Hannon, E. (Eilis), Carnero-Montoro, E. (Elena), Min, J. (Josine), Mandaviya, P.R. (Pooja), Müller-Nurasyid, M. (Martina), Mei, H. (Hailiang), Maarel, S.M. (Silvre) van der, Beekman, M. (Marian), der Breggen, R. (Ruud van), Deelen, J. (Joris), Lakenberg, N. (Nico), Moed, H. (Heleen), Suchiman, H.E.D. (Eka), Arindrarto, W. (Wibowo), van’t Hof, P. (Peter), Jan Bonder, M. (Marc), Deelen, P. (Patrick), Tigchelaar, E.F. (Ettje F.), Zhernakova, A. (Alexandra), Zhernakova, D.V. (Dasha V.), Dongen, J. (Jenny) van, Hottenga, J.J. (Jouke Jan), Pool, R. (Reńe), Isaacs, A. (Aaron), Hofman, B.A. (Bert A.), Jhamai, M. (Mila), Kallen, C.J. van der, Schalkwijk, C.G. (Casper), Stehouwer, C.D. (Coen), Berg, L.H. (Leonard) van den, Van Galen, M. (Michiel), Vermaat, M. (Martijn), van Rooij, J. (Jeroen), Uitterlinden, A.G. (André), Verbiest, M.M.P.J. (Michael), Verkerk, M. (Marijn), Kielbasa, P.S.M. (P. Szymon M.), Bot, J.J. (Jan), Nooren, I. (Irene), Dijk, F. (Freerk) van, Swertz, M.A. (Morris A.), Heemst, D. (Diana) van, Relton, C.L. (Caroline), Mill, J. (Jonathan), Waldenberger, M. (Melanie), Bell, J.T. (Jordana T.), Jansen, R. (Rick), Franke, L. (Lude), ‘t Hoen, P.A.C. (Peter A. C.), Boomsma, D.I. (Dorret), Duijn, C.M. (Cornelia) van, Greevenbroek, M.M. van, Veldink, J.H. (Jan), Wijmenga, C. (Cisca), Meurs, J.B.J. (Joyce) van, Daxinger, L. (Lucia), Slagboom, P.E. (Eline), Zwet, E.W. (Erik) van, and Heijmans, B.T. (Bastiaan T.)
Abstract: X-chromosome inactivation (XCI), i.e., the inactivation of one of the female X chromosomes, restores equal expression of X-chromosomal genes between females and males. However, ~10% of genes show variable degrees of escape from XCI between females, although little is known about the causes of variable XCI. Using a discovery data-set of 1867 females and 1398 males and a replication sample of 3351 females, we show that genetic variation at three autosomal loci is associated with female-specific changes in X-chromosome methylation. Through cis-eQTL expression analysis, we map these loci to the genes SMCHD1/METTL4, TRIM6/HBG2, and ZSCAN9. Low-expression alleles of the loci are predominantly associated with mild hypomethylation of CpG islands near genes known to variably escape XCI, implicating the autosomal genes in variable XCI. Together, these results suggest a genetic basis for variable escape from XCI and highlight the potential of a population genomics approach to identify genes involved in XCI.
Published: 2018
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78. Erratum to: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

Author: Evangelou, E. (Evangelos), Warren, H. (Helen), Mosen-Ansorena, D. (David), Mifsud, B. (Borbala), Pazoki, R. (Raha), Gao, H. (He), Ntritsos, G. (Georgios), Dimou, N. (Niki), Cabrera, C.P. (Claudia P.), Karaman, I. (Ibrahim), Ng, F.L. (Fu Liang), Evangelou, M. (Marina), Witkowska, K. (Katarzyna), Tzanis, E. (Evan), Hellwege, J.N. (Jacklyn N.), Giri, A. (Ayush), Velez Edwards, D.R. (Digna R.), Sun, Y.V. (Yan V.), Cho, K. (Kelly), Gaziano, J.M. (J. Michael), Wilson, P.W.F. (Peter W. F.), Tsao, P.S. (Philip S.), Kovesdy, C.P. (Csaba P.), Esko, T. (Tonu), Mägi, R. (Reedik), Milani, L. (Lili), Almgren, P. (Peter), Boutin, T. (Thibaud), Debette, S. (Stéphanie), Ding, J. (Jun), Giulianini, F. (Franco), Holliday, E.G. (Elizabeth), Jackson, A.U. (Anne), Li-Gao, R. (Ruifang), Lin, W.-Y. (Wei-Yu), Luan, J., Mangino, M. (Massimo), Oldmeadow, C. (Christopher), Prins, B.P. (Bram Peter), Qian, Y. (Yong), Sargurupremraj, M. (Muralidharan), Shah, N. (Nisha), Surendran, P. (Praveen), Thériault, S. (Sébastien), Verweij, N. (Niek), Willems, S.M. (Sara), Zhao, J.-H. (Jing-Hua), Amouyel, P. (Philippe), Connell, J. (John), Mutsert, R. (Reneé) de, Doney, A.S.F. (Alex), Farrall, M. (Martin), Menni, C. (Cristina), Morris, A.D. (Andrew), Noordam, R. (Raymond), Pare, G. (Guillame), Poulter, N.R. (Neil), Shields, D.C. (Denis C.), Stanton, A. (Alice), McG Thom, S.A., Abecasis, G. (Gonçalo), Amin, N. (Najaf), Arking, D.E. (Dan), Ayers, K.L. (Kristin), Barbieri, C.M. (Caterina M.), Batini, C. (Chiara), Bis, J.C. (Joshua), Blake, T. (Tineka), Bochud, M. (Murielle), Boehnke, M. (Michael), Boerwinkle, E. (Eric), Boomsma, D.I. (Dorret I.), Bottinger, E.P. (Erwin P.), Braund, P.S. (Peter), Brumat, M. (Marco), Campbell, A. (Archie), Campbell, H. (Harry), Chakravarti, A. (Aravinda), Chambers, J.C. (John C.), Chauhan, G. (Ganesh), Ciullo, M. (Marina), Cocca, M. (Massimiliano), Collins, F. (Francis), Cordell, H.J. (Heather), Davies, G. (Gail), de Borst, M.H. (Martin H.), Geus, E.J.C. (Eco) de, Deary, I.J. (Ian), Deelen, J. (Joris), Del Greco M, F. (Fabiola), Demirkale, C.Y. (Cumhur Yusuf), Dörr, M. (Marcus), Ehret, G.B. (Georg B.), Elosua, R. (Roberto), Enroth, S. (Stefan), Erzurumluoglu, A.M. (A. Mesut), Ferreira, T. (Teresa), Frånberg, M. (Mattias), Franco, O.H. (Oscar), Gandin, I. (Ilaria), Gasparini, P. (Paolo), Giedraitis, V. (Vilmantas), Gieger, C. (Christian), Girotto, G. (Giorgia), Goel, A. (Anuj), Gow, A.J. (Alan J.), Gudnason, V. (Vilmundur), Guo, X. (Xiuqing), Gyllensten, U. (Ulf), Hamsten, A. (Anders), Harris, T.B. (Tamara), Harris, S.E. (Sarah), Hartman, C.A. (Catharina A.), Havulinna, A.S. (Aki), Hicks, A.A. (Andrew A.), Hofer, E. (Edith), Hofman, A. (Albert), Hottenga, J.J. (Jouke Jan), Huffman, J.E. (Jennifer E.), Hwang, S.-J. (Shih-Jen), Ingelsson, E. (Erik), James, A. (Alan), Jansen, R. (Rick), Jarvelin, M.-R. (Marjo-Riitta), Joehanes, R. (Roby), Johansson, A. (Åsa), Johnson, A.D. (Andrew), Joshi, P.K. (Peter K.), Jousilahti, P. (Pekka), Jukema, J.W. (Jan Wouter), Jula, A. (Antti), Kähönen, M. (Mika), Kathiresan, S. (Sekar), Keavney, B.D. (Bernard D.), Khaw, K.-T. (Kay-Tee), Knekt, P., Knight, J. (Joanne), Kolcic, I. (Ivana), Kooner, J.S. (Jaspal S.), Koskinen, S. (Seppo), Kristiansson, K. (Kati), Kutalik, Z. (Zoltán), Laan, M. (Maris), Larson, M.G. (Martin), Launer, L.J. (Lenore), Lehne, B. (Benjamin), Lehtimäki, T. (Terho), Liewald, D.C.M. (David C. M.), Lin, L. (Li), Kao, W.H.L. (Wen), Lindgren, C.M. (Cecilia M.), Liu, Y. (YongMei), Loos, R.J.F. (Ruth), Lopez, L.M. (Lorna), Lu, Y. (Yingchang), Lyytikäinen, L.-P. (Leo-Pekka), Mahajan, A. (Anubha), Mamasoula, C. (Chrysovalanto), Marrugat, J. (Jaume), Marten, J. (Jonathan), Milaneschi, Y. (Yuri), Morgan, A. (Anna), Morris, A.P. (Andrew), Morrison, A.C. (Alanna), Munson, P.J. (Peter), Nalls, M.A. (Michael), Nandakumar, P. (Priyanka), Nelson, C.P. (Christopher P.), Niiranen, T. (Teemu), Nolte, I.M. (Ilja), Nutile, T. (Teresa), Oldehinkel, A.J. (Albertine), Oostra, B.A. (Ben), O’Reilly, P.F. (Paul F.), Org, E. (Elin), Padmanabhan, S. (Sandosh), Palmas, W. (Walter), Palotie, A. (Aarno), Pattie, A. (Alison), Penninx, B.W.J.H. (Brenda), Perola, M. (Markus), Peters, A. (Annette), Polasek, O. (Ozren), Pramstaller, P.P. (Peter Paul), Nguyen, Q.T. (Quang Tri), Raitakari, O. (Olli), Ren, M. (Meixia), Rettig, R. (Rainer), Rice, K.M. (Kenneth), Ridker, P.M. (Paul), Ried, J.S. (Janina S.), Riese, H. (Harriëtte), Ripatti, S. (Samuli), Robino, A. (Antonietta), Rose, L.M. (Lynda M.), Rotter, J.I. (Jerome I.), Rudan, I. (Igor), Ruggiero, D., Saba, Y. (Yasaman), Sala, C. (Cinzia), Salomaa, V. (Veikko), Samani, N.J. (Nilesh J.), Sarin, A.-P., Schmidt, R. (Reinhold), Schmidt, H. (Helena), Shrine, N.R.G. (Nick), Siscovick, D. (David), Smith, A.V. (Albert), Snieder, H. (Harold), Sõber, S. (Siim), Sorice, R., Starr, J.M. (John), Stott, D.J. (David. J.), Strachan, D.P. (David), Strawbridge, R.J. (Rona), Sundström, J. (Johan), Swertz, M.A. (Morris A.), Taylor, K.D. (Kent), Teumer, A. (Alexander), Tobin, M.D. (Martin), Tomaszewski, M. (Maciej), Toniolo, D. (Daniela), Traglia, M. (Michela), Trompet, S. (Stella), Tuomilehto, J. (Jaakko), Tzourio, C. (Christophe), Uitterlinden, A.G. (André), Vaez, A. (Ahmad), Most, P.J. (Peter) van der, Duijn, C.M. (Cornelia) van, Vergnaud, A.-C. (Anne-Claire), Verwoert, G.C. (Germaine C.), Vitart, V. (Veronique), Völker, U. (Uwe), Vollenweider, P. (Peter), Vuckovic, D. (Dragana), Watkins, H. (Hugh), Wild, S.H. (Sarah), Willemsen, G. (Gonneke), Wilson, J.F. (James F.), Wright, A.F. (Alan), Yao, J. (Jie), Zemunik, T. (Tatijana), Zhang, W. (Weihua), Attia, J. (John), Butterworth, A.S. (Adam S.), Chasman, D.I. (Daniel), Conen, D. (David), Cucca, F. (Francesco), Danesh, J. (John), Hayward, C. (Caroline), Howson, J.M.M. (Joanna M. M.), Laakso, M. (Markku), Lakatta, E.G. (Edward G.), Langenberg, C. (Claudia), Melander, O. (Olle), Mook-Kanamori, D.O. (Dennis O.), Palmer, C.N.A. (Colin N. A.), Risch, L. (Lorenz), Scott, R.A. (Robert), Scott, R.J. (Rodney J.), Sever, P. (Peter), Spector, T.D. (Timothy), van der Harst, P. (Pim), Wareham, N.J. (Nick), Zeggini, E. (Eleftheria), Levy, D. (Daniel), Munroe, P. (Patricia), Newton-Cheh, C. (Christopher), Brown, M.J. (Morris), Metspalu, A. (Andres), Hung, A.M. (Adriana M.), Ódonnell, C.J. (Christopher), Edwards, T.L. (Todd L.), Psaty, B.M. (Bruce), Tzoulaki, I., Barnes, M.J. (Michael), Wain, L.V. (Louise V.), Elliott, P. (Paul), Caulfield, M. (Mark), Evangelou, E. (Evangelos), Warren, H. (Helen), Mosen-Ansorena, D. (David), Mifsud, B. (Borbala), Pazoki, R. (Raha), Gao, H. (He), Ntritsos, G. (Georgios), Dimou, N. (Niki), Cabrera, C.P. (Claudia P.), Karaman, I. (Ibrahim), Ng, F.L. (Fu Liang), Evangelou, M. (Marina), Witkowska, K. (Katarzyna), Tzanis, E. (Evan), Hellwege, J.N. (Jacklyn N.), Giri, A. (Ayush), Velez Edwards, D.R. (Digna R.), Sun, Y.V. (Yan V.), Cho, K. (Kelly), Gaziano, J.M. (J. Michael), Wilson, P.W.F. (Peter W. F.), Tsao, P.S. (Philip S.), Kovesdy, C.P. (Csaba P.), Esko, T. (Tonu), Mägi, R. (Reedik), Milani, L. (Lili), Almgren, P. (Peter), Boutin, T. (Thibaud), Debette, S. (Stéphanie), Ding, J. (Jun), Giulianini, F. (Franco), Holliday, E.G. (Elizabeth), Jackson, A.U. (Anne), Li-Gao, R. (Ruifang), Lin, W.-Y. (Wei-Yu), Luan, J., Mangino, M. (Massimo), Oldmeadow, C. (Christopher), Prins, B.P. (Bram Peter), Qian, Y. (Yong), Sargurupremraj, M. (Muralidharan), Shah, N. (Nisha), Surendran, P. (Praveen), Thériault, S. (Sébastien), Verweij, N. (Niek), Willems, S.M. (Sara), Zhao, J.-H. (Jing-Hua), Amouyel, P. (Philippe), Connell, J. (John), Mutsert, R. (Reneé) de, Doney, A.S.F. (Alex), Farrall, M. (Martin), Menni, C. (Cristina), Morris, A.D. (Andrew), Noordam, R. (Raymond), Pare, G. (Guillame), Poulter, N.R. (Neil), Shields, D.C. (Denis C.), Stanton, A. (Alice), McG Thom, S.A., Abecasis, G. (Gonçalo), Amin, N. (Najaf), Arking, D.E. (Dan), Ayers, K.L. (Kristin), Barbieri, C.M. (Caterina M.), Batini, C. (Chiara), Bis, J.C. (Joshua), Blake, T. (Tineka), Bochud, M. (Murielle), Boehnke, M. (Michael), Boerwinkle, E. (Eric), Boomsma, D.I. (Dorret I.), Bottinger, E.P. (Erwin P.), Braund, P.S. (Peter), Brumat, M. (Marco), Campbell, A. (Archie), Campbell, H. (Harry), Chakravarti, A. (Aravinda), Chambers, J.C. (John C.), Chauhan, G. (Ganesh), Ciullo, M. (Marina), Cocca, M. (Massimiliano), Collins, F. (Francis), Cordell, H.J. (Heather), Davies, G. (Gail), de Borst, M.H. (Martin H.), Geus, E.J.C. (Eco) de, Deary, I.J. (Ian), Deelen, J. (Joris), Del Greco M, F. (Fabiola), Demirkale, C.Y. (Cumhur Yusuf), Dörr, M. (Marcus), Ehret, G.B. (Georg B.), Elosua, R. (Roberto), Enroth, S. (Stefan), Erzurumluoglu, A.M. (A. Mesut), Ferreira, T. (Teresa), Frånberg, M. (Mattias), Franco, O.H. (Oscar), Gandin, I. (Ilaria), Gasparini, P. (Paolo), Giedraitis, V. (Vilmantas), Gieger, C. (Christian), Girotto, G. (Giorgia), Goel, A. (Anuj), Gow, A.J. (Alan J.), Gudnason, V. (Vilmundur), Guo, X. (Xiuqing), Gyllensten, U. (Ulf), Hamsten, A. (Anders), Harris, T.B. (Tamara), Harris, S.E. (Sarah), Hartman, C.A. (Catharina A.), Havulinna, A.S. (Aki), Hicks, A.A. (Andrew A.), Hofer, E. (Edith), Hofman, A. (Albert), Hottenga, J.J. (Jouke Jan), Huffman, J.E. (Jennifer E.), Hwang, S.-J. (Shih-Jen), Ingelsson, E. (Erik), James, A. (Alan), Jansen, R. (Rick), Jarvelin, M.-R. (Marjo-Riitta), Joehanes, R. (Roby), Johansson, A. (Åsa), Johnson, A.D. (Andrew), Joshi, P.K. (Peter K.), Jousilahti, P. (Pekka), Jukema, J.W. (Jan Wouter), Jula, A. (Antti), Kähönen, M. (Mika), Kathiresan, S. (Sekar), Keavney, B.D. (Bernard D.), Khaw, K.-T. (Kay-Tee), Knekt, P., Knight, J. (Joanne), Kolcic, I. (Ivana), Kooner, J.S. (Jaspal S.), Koskinen, S. (Seppo), Kristiansson, K. (Kati), Kutalik, Z. (Zoltán), Laan, M. (Maris), Larson, M.G. (Martin), Launer, L.J. (Lenore), Lehne, B. (Benjamin), Lehtimäki, T. (Terho), Liewald, D.C.M. (David C. M.), Lin, L. (Li), Kao, W.H.L. (Wen), Lindgren, C.M. (Cecilia M.), Liu, Y. (YongMei), Loos, R.J.F. (Ruth), Lopez, L.M. (Lorna), Lu, Y. (Yingchang), Lyytikäinen, L.-P. (Leo-Pekka), Mahajan, A. (Anubha), Mamasoula, C. (Chrysovalanto), Marrugat, J. (Jaume), Marten, J. (Jonathan), Milaneschi, Y. (Yuri), Morgan, A. (Anna), Morris, A.P. (Andrew), Morrison, A.C. (Alanna), Munson, P.J. (Peter), Nalls, M.A. (Michael), Nandakumar, P. (Priyanka), Nelson, C.P. (Christopher P.), Niiranen, T. (Teemu), Nolte, I.M. (Ilja), Nutile, T. (Teresa), Oldehinkel, A.J. (Albertine), Oostra, B.A. (Ben), O’Reilly, P.F. (Paul F.), Org, E. (Elin), Padmanabhan, S. (Sandosh), Palmas, W. (Walter), Palotie, A. (Aarno), Pattie, A. (Alison), Penninx, B.W.J.H. (Brenda), Perola, M. (Markus), Peters, A. (Annette), Polasek, O. (Ozren), Pramstaller, P.P. (Peter Paul), Nguyen, Q.T. (Quang Tri), Raitakari, O. (Olli), Ren, M. (Meixia), Rettig, R. (Rainer), Rice, K.M. (Kenneth), Ridker, P.M. (Paul), Ried, J.S. (Janina S.), Riese, H. (Harriëtte), Ripatti, S. (Samuli), Robino, A. (Antonietta), Rose, L.M. (Lynda M.), Rotter, J.I. (Jerome I.), Rudan, I. (Igor), Ruggiero, D., Saba, Y. (Yasaman), Sala, C. (Cinzia), Salomaa, V. (Veikko), Samani, N.J. (Nilesh J.), Sarin, A.-P., Schmidt, R. (Reinhold), Schmidt, H. (Helena), Shrine, N.R.G. (Nick), Siscovick, D. (David), Smith, A.V. (Albert), Snieder, H. (Harold), Sõber, S. (Siim), Sorice, R., Starr, J.M. (John), Stott, D.J. (David. J.), Strachan, D.P. (David), Strawbridge, R.J. (Rona), Sundström, J. (Johan), Swertz, M.A. (Morris A.), Taylor, K.D. (Kent), Teumer, A. (Alexander), Tobin, M.D. (Martin), Tomaszewski, M. (Maciej), Toniolo, D. (Daniela), Traglia, M. (Michela), Trompet, S. (Stella), Tuomilehto, J. (Jaakko), Tzourio, C. (Christophe), Uitterlinden, A.G. (André), Vaez, A. (Ahmad), Most, P.J. (Peter) van der, Duijn, C.M. (Cornelia) van, Vergnaud, A.-C. (Anne-Claire), Verwoert, G.C. (Germaine C.), Vitart, V. (Veronique), Völker, U. (Uwe), Vollenweider, P. (Peter), Vuckovic, D. (Dragana), Watkins, H. (Hugh), Wild, S.H. (Sarah), Willemsen, G. (Gonneke), Wilson, J.F. (James F.), Wright, A.F. (Alan), Yao, J. (Jie), Zemunik, T. (Tatijana), Zhang, W. (Weihua), Attia, J. (John), Butterworth, A.S. (Adam S.), Chasman, D.I. (Daniel), Conen, D. (David), Cucca, F. (Francesco), Danesh, J. (John), Hayward, C. (Caroline), Howson, J.M.M. (Joanna M. M.), Laakso, M. (Markku), Lakatta, E.G. (Edward G.), Langenberg, C. (Claudia), Melander, O. (Olle), Mook-Kanamori, D.O. (Dennis O.), Palmer, C.N.A. (Colin N. A.), Risch, L. (Lorenz), Scott, R.A. (Robert), Scott, R.J. (Rodney J.), Sever, P. (Peter), Spector, T.D. (Timothy), van der Harst, P. (Pim), Wareham, N.J. (Nick), Zeggini, E. (Eleftheria), Levy, D. (Daniel), Munroe, P. (Patricia), Newton-Cheh, C. (Christopher), Brown, M.J. (Morris), Metspalu, A. (Andres), Hung, A.M. (Adriana M.), Ódonnell, C.J. (Christopher), Edwards, T.L. (Todd L.), Psaty, B.M. (Bruce), Tzoulaki, I., Barnes, M.J. (Michael), Wain, L.V. (Louise V.), Elliott, P. (Paul), and Caulfield, M. (Mark)
Abstract: In the version of this article originally published, the name of author Martin H. de Borst was coded incorrectly in the XML. The error has now been corrected in the HTML version of the paper.
Published: 2018
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79. Skewed X-inactivation is common in the general female population

Author: Shvetsova, E. (Ekaterina), Sofronova, A. (Alina), Monajemi, R. (Ramin), Gagalova, K. (Kristina), Draisma, G. (Gerrit), White, S.J. (Stefan), Santen, G.W.E. (Gijs), Chuva De Sousa Lopes, S.M. (Susana M.), Heijmans, B.T. (Bastiaan T.), van Meurs, J. (Joyce), Jansen, R. (Rick), Franke, L. (Lude), Kielbasa, S.M. (Szymon M.), Dunnen, J.T. (Johan) den, ‘t Hoen, P.A.C. (Peter A. C.), Heijmans, B.T. (Bastiaan T), Meurs, J.B.J. (Joyce) van, Boomsma, D.I. (Dorret), Pool, R. (Reńe), Dongen, J. (Jenny) van, Hottenga, J.J. (Jouke Jan), Greevenbroek, M.M. van, Stehouwer, C.D. (Coen Da), Kallen, C.J. van der, Schalkwijk, C.G. (Casper), Wijmenga, C. (Cisca), Zhernakova, S. (Sasha), Tigchelaar, E.F. (Ettje F.), Slagboom, P.E. (Eline), Beekman, M. (Marian), Deelen, J. (Joris), Heemst, D. (Diana) van, Veldink, J.H. (Jan), Berg, L.H. (Leonard) van den, Duijn, C.M. (Cornelia) van, Hofman, B.A. (Bert A), Uitterlinden, A.G. (André), Jhamai, P.M. (Mila), Verbiest, M.M.P.J. (Michael), Suchiman, H.E.D. (H Eka D), Verkerk, M. (Marijn), Breggen, R. (Ruud) van der, van Rooij, J. (Jeroen), Lakenberg, N. (Nico), Mei, S. (Shan), Bot, J. (Jan), Zhernakova, D.V. (Dasha V), van ’t Hof, P. (Peter), Deelen, P. (Patrick), Nooren, I. (Irene), Moed, H. (Heleen), Vermaat, M. (Martijn), Luijk, R. (René), Jan Bonder, M. (Marc), Iterson, M. (Maarten) van, van Dijk, F. (Freerk), Van Galen, M. (Michiel), Arindrarto, W. (Wibowo), Swertz, M.A. (Morris A), Zwet, E.W. (Erik) van, Isaacs, A.J. (Aaron), Francioli, L.C. (Laurent), Menelaou, A. (Androniki), Pulit, S.L. (Sara), Dijk, F. (Freerk) van, Palamara, P.F. (Pier Francesco), Elbers, C.C. (Clara), Neerincx, P.B.T. (Pieter B T), Ye, K. (K.), Guryev, V. (Victor), Kloosterman, W. (Wp), Abdellaoui, A. (Abdel), van Leeuwen, E. (Em), Oven, M. (Mannis) van, Li, M. (M.), Laros, J. (Jf), Karssen, L.C. (Lennart), Kanterakis, A. (Alexandros), Amin, N. (Najaf), Hottenga, J. (Jj), Lameijer, E. (Ew), Kattenberg, V.M. (Mathijs), Dijkstra, M. (Martijn), Byelas, H. (Heorhiy), Setten, J. (Jessica) van, van Schaik, B. (Bd), Bot, J.J. (Jan), Nijman, I. (Ij), Renkens, I. (Ivo), Marschall, T. (Tanja), Schönhuth, A. (A.), Hehir-Kwa, J. (Jayne), Handsaker, R.E. (Robert), Polak, P., Sohail, M. (Mashaal), Vuzman, D. (Dana), Hormozdiari, F. (Fereydoun), Enckevort, D. (David) van, Mei, H. (H.), Koval, V. (Vyacheslav), Moed, M. (Mh), van der Velde, K. (Kj), Rivadeneira Ramirez, F. (Fernando), Estrada Gil, K. (Karol), Medina-Gomez, M.C. (Carolina), McCarroll, S. (Sa), de Craen, A. (Aj), Suchiman, H. (He), Hofman, B. (Ba), Oostra, B.A. (Ben), Uitterlinden, A. (Ag), Willemsen, G.A.H.M. (Gonneke), Platteel, I. (Inge), Veldink, J. (Jh), van den Berg, L. (Lh), Pitts, S. (Sj), Potluri, S. (Shobha), Sundar, P. (Purnima), Cox, D. (Dr), Sunyaev, S. (Sr), den Dunnen, J. (Jt), Stoneking, M. (Mark), Knijff, P. (Peter) de, Kayser, M.H. (Manfred), Li, Q. (Q.), Li, Y. (Y.), Du, Y. (Y.), Chen, R. (R.), Cao, H. (H.), Li, N. (N.), Cao, S. (Sherry), Wang, J. (J.), Bovenberg, J.A. (Jasper), Peer, I. (Itsik), Slagboom, P. (Pe), van Duijn, C. (Cm), Boomsma, D. (Di), van Ommen, G. (Gj), de Bakker, P. (Pi), Swertz, M. (Ma), Wijmenga, C. (C.), Shvetsova, E. (Ekaterina), Sofronova, A. (Alina), Monajemi, R. (Ramin), Gagalova, K. (Kristina), Draisma, G. (Gerrit), White, S.J. (Stefan), Santen, G.W.E. (Gijs), Chuva De Sousa Lopes, S.M. (Susana M.), Heijmans, B.T. (Bastiaan T.), van Meurs, J. (Joyce), Jansen, R. (Rick), Franke, L. (Lude), Kielbasa, S.M. (Szymon M.), Dunnen, J.T. (Johan) den, ‘t Hoen, P.A.C. (Peter A. C.), Heijmans, B.T. (Bastiaan T), Meurs, J.B.J. (Joyce) van, Boomsma, D.I. (Dorret), Pool, R. (Reńe), Dongen, J. (Jenny) van, Hottenga, J.J. (Jouke Jan), Greevenbroek, M.M. van, Stehouwer, C.D. (Coen Da), Kallen, C.J. van der, Schalkwijk, C.G. (Casper), Wijmenga, C. (Cisca), Zhernakova, S. (Sasha), Tigchelaar, E.F. (Ettje F.), Slagboom, P.E. (Eline), Beekman, M. (Marian), Deelen, J. (Joris), Heemst, D. (Diana) van, Veldink, J.H. (Jan), Berg, L.H. (Leonard) van den, Duijn, C.M. (Cornelia) van, Hofman, B.A. (Bert A), Uitterlinden, A.G. (André), Jhamai, P.M. (Mila), Verbiest, M.M.P.J. (Michael), Suchiman, H.E.D. (H Eka D), Verkerk, M. (Marijn), Breggen, R. (Ruud) van der, van Rooij, J. (Jeroen), Lakenberg, N. (Nico), Mei, S. (Shan), Bot, J. (Jan), Zhernakova, D.V. (Dasha V), van ’t Hof, P. (Peter), Deelen, P. (Patrick), Nooren, I. (Irene), Moed, H. (Heleen), Vermaat, M. (Martijn), Luijk, R. (René), Jan Bonder, M. (Marc), Iterson, M. (Maarten) van, van Dijk, F. (Freerk), Van Galen, M. (Michiel), Arindrarto, W. (Wibowo), Swertz, M.A. (Morris A), Zwet, E.W. (Erik) van, Isaacs, A.J. (Aaron), Francioli, L.C. (Laurent), Menelaou, A. (Androniki), Pulit, S.L. (Sara), Dijk, F. (Freerk) van, Palamara, P.F. (Pier Francesco), Elbers, C.C. (Clara), Neerincx, P.B.T. (Pieter B T), Ye, K. (K.), Guryev, V. (Victor), Kloosterman, W. (Wp), Abdellaoui, A. (Abdel), van Leeuwen, E. (Em), Oven, M. (Mannis) van, Li, M. (M.), Laros, J. (Jf), Karssen, L.C. (Lennart), Kanterakis, A. (Alexandros), Amin, N. (Najaf), Hottenga, J. (Jj), Lameijer, E. (Ew), Kattenberg, V.M. (Mathijs), Dijkstra, M. (Martijn), Byelas, H. (Heorhiy), Setten, J. (Jessica) van, van Schaik, B. (Bd), Bot, J.J. (Jan), Nijman, I. (Ij), Renkens, I. (Ivo), Marschall, T. (Tanja), Schönhuth, A. (A.), Hehir-Kwa, J. (Jayne), Handsaker, R.E. (Robert), Polak, P., Sohail, M. (Mashaal), Vuzman, D. (Dana), Hormozdiari, F. (Fereydoun), Enckevort, D. (David) van, Mei, H. (H.), Koval, V. (Vyacheslav), Moed, M. (Mh), van der Velde, K. (Kj), Rivadeneira Ramirez, F. (Fernando), Estrada Gil, K. (Karol), Medina-Gomez, M.C. (Carolina), McCarroll, S. (Sa), de Craen, A. (Aj), Suchiman, H. (He), Hofman, B. (Ba), Oostra, B.A. (Ben), Uitterlinden, A. (Ag), Willemsen, G.A.H.M. (Gonneke), Platteel, I. (Inge), Veldink, J. (Jh), van den Berg, L. (Lh), Pitts, S. (Sj), Potluri, S. (Shobha), Sundar, P. (Purnima), Cox, D. (Dr), Sunyaev, S. (Sr), den Dunnen, J. (Jt), Stoneking, M. (Mark), Knijff, P. (Peter) de, Kayser, M.H. (Manfred), Li, Q. (Q.), Li, Y. (Y.), Du, Y. (Y.), Chen, R. (R.), Cao, H. (H.), Li, N. (N.), Cao, S. (Sherry), Wang, J. (J.), Bovenberg, J.A. (Jasper), Peer, I. (Itsik), Slagboom, P. (Pe), van Duijn, C. (Cm), Boomsma, D. (Di), van Ommen, G. (Gj), de Bakker, P. (Pi), Swertz, M. (Ma), and Wijmenga, C. (C.)
Abstract: X-inactivation is a well-established dosage compensation mechanism ensuring that X-chromosomal genes are expressed at comparable levels in males and females. Skewed X-inactivation is often explained by negative selection of one of the alleles. We demonstrate that imbalanced expression of the paternal and maternal X-chromosomes is common in the general population and that the random nature of the X-inactivation mechanism can be sufficient to explain the imbalance. To this end, we analyzed blood-derived RNA and whole-genome sequencing data from 79 female children and their parents from the Genome of the Netherlands project. We calculated the median ratio of the paternal over total counts at all X-chromosomal heterozygous single-nucleotide variants with coverage ≥10. We identified two individuals where the same X-chromosome was inactivated in all cells. Imbalanced expression of the two X-chromosomes (ratios ≤0.35 or ≥0.65) was observed in nearly 50% of the population. The empirically observed skewing is explained by a theoretical model where X-inactivation takes place in an embryonic stage in which eight cells give rise to the hematopoietic compartment. Genes escaping X-inactivation are expressed from both alleles and therefore demonstrate less skewing than inactivated genes. Using this characteristic, we identified three novel escapee genes (SSR4, REPS2, and SEPT6), but did not find support for many previously reported escapee genes in blood. Our collective data suggest that skewed X-inactivation is common in the general population. This may contribute to manifestation of symptoms in carriers of recessive X-linked disorders. We recommend that X-inactivation results should not be used lightly in the interpretation of X-linked variants.
Published: 2018
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80. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

Author: Teumer, A. (Alexander), Chaker, L. (Layal), Groeneweg, S. (Stefan), Li, Y. (Yong), Di Munno, C. (Celia), Barbieri, C. (Caterina), Schultheiss, U.T. (Ulla T.), Traglia, M. (Michela), Ahluwalia, T.S. (Tarunveer Singh), Akiyama, M. (Masato), Appel, E.V.R. (Emil Vincent R.), Arking, D.E. (Dan), Arnold, A.M. (Alice), Astrup, A. (Arne), Beekman, M. (Marian), Beilby, J.P. (John), Bekaert, S. (Sofie), Boerwinkle, E. (Eric), Brown, S.J. (Stephen), Buyzere, M. (Marc) de, Campbell, P.J. (Purdey J.), Ceresini, G. (Graziano), Cerqueira, C. (Charlotte), Cucca, F. (Francesco), Deary, I.J. (Ian), Deelen, J. (Joris), Eckardt, K.-U. (Kai-Uwe), Ekici, A.B. (Arif B.), Hagen, K. (Knut), Ferrrucci, L. (Luigi), Fiers, T. (Tom), Fiorillo, E. (Edoardo), Ford, I. (Ian), Fox, C.S. (Caroline), Fuchsberger, C. (Christian), Galesloot, T.E. (Tessel), Gieger, C. (Christian), Gögele, M. (Martin), Grandi, A. (Alessandro) de, Grarup, N. (Niels), Greiser, K.H. (Karin Halina), Haljas, K. (Kadri), Hansen, T. (Torben), Harris, S.E. (Sarah), Heemst, D. (Diana) van, Heijer, M. (Martin) den, Hicks, A.A. (Andrew A.), Hollander, W. (Wouter) den, Homuth, G. (Georg), Hui, J. (Jennie), Ikram, M.A. (Arfan), Ittermann, T. (Till), Jensen, R.A. (Richard A.), Jing, J. (Jiaojiao), Jukema, J.W. (Jan Wouter), Kajantie, E. (Eero), Kamatani, Y. (Yoichiro), Kasbohm, E. (Elisa), Kaufman, J.-M. (Jean-Marc), Kiemeney, L.A. (Lambertus A.), Kloppenburg, M. (Margreet), Kronenberg, F. (Florian), Kubo, M. (Michiaki), Lahti, J. (Jari), Lapauw, B. (Bruno), Li, S. (Shuo), Liewald, D.C.M. (David C. M.), Alizadeh, B.Z. (Behrooz), Boezen, H.M. (Marike), Franke, L. (Lude), van der Harst, P. (Pim), Navis, G. (Gerjan), Rots, M.G. (M.), Snieder, H. (Harold), Swertz, M.A. (Morris A.), Wijmenga, C. (Cisca), Lim, E.M. (Ee Mun), Linneberg, A. (Allan), Marina, M. (Michela), Mascalzoni, D. (Deborah), Matsuda, K. (Koichi), Medenwald, D. (Daniel), Meisinger, C. (Christa), Meulenbelt, I. (Ingrid), Meyer, T. (Thorsten), Meyer zu Schwabedissen, H.E. (Henriette E.), Mikolajczyk, R. (Rafael), Moed, H. (Heleen), Netea-Maier, R.T. (Romana), Nolte, I.M. (Ilja), Okada, Y. (Yukinori), Pala, M. (Mauro), Penninx, B.W.J.H., Pedersen, O. (Oluf), Petersmann, A. (Astrid), Porcu, E. (Eleonora), Postmus, D. (Douwe), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce), Ramos, Y.F.M. (Yolande F. M.), Rawal, R. (Rajesh), Redmond, P. (Paul), Richards, J.B. (Brent), Rietzschel, E.R. (Ernst), Rivadeneira Ramirez, F. (Fernando), Roef, G.L. (Greet), Rotter, J.I. (Jerome I.), Sala, C. (Cinzia), Schlessinger, D. (David), Selvin, E. (Elizabeth), Slagboom, P.E. (Eline), Soranzo, N. (Nicole), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Starr, J.M. (John), Stott, D.J. (David. J.), Taes, Y.E. (Youri), Taliun, D. (Daniel), Tanaka, T. (Toshiko), Thuesen, L. (Leif), Tiller, D. (Daniel), Toniolo, D. (Daniela), Uitterlinden, A.G. (Andre G.), Visser, W.E. (Edward), Walsh, J.P. (John P.), Wilson, S.G. (Scott), Wolffenbuttel, B.H.R. (Bruce), Yang, Q. (Qiong Fang), Zheng, H.-F. (Hou-Feng), Cappola, A.R. (Anne), Peeters, R.P. (Robin), Naitza, S. (Silvia), Völzke, H. (Henry), Sanna, S. (Serena), Köttgen, A. (Anna), Visser, T.J. (Theo), Medici, M. (Marco), Teumer, A. (Alexander), Chaker, L. (Layal), Groeneweg, S. (Stefan), Li, Y. (Yong), Di Munno, C. (Celia), Barbieri, C. (Caterina), Schultheiss, U.T. (Ulla T.), Traglia, M. (Michela), Ahluwalia, T.S. (Tarunveer Singh), Akiyama, M. (Masato), Appel, E.V.R. (Emil Vincent R.), Arking, D.E. (Dan), Arnold, A.M. (Alice), Astrup, A. (Arne), Beekman, M. (Marian), Beilby, J.P. (John), Bekaert, S. (Sofie), Boerwinkle, E. (Eric), Brown, S.J. (Stephen), Buyzere, M. (Marc) de, Campbell, P.J. (Purdey J.), Ceresini, G. (Graziano), Cerqueira, C. (Charlotte), Cucca, F. (Francesco), Deary, I.J. (Ian), Deelen, J. (Joris), Eckardt, K.-U. (Kai-Uwe), Ekici, A.B. (Arif B.), Hagen, K. (Knut), Ferrrucci, L. (Luigi), Fiers, T. (Tom), Fiorillo, E. (Edoardo), Ford, I. (Ian), Fox, C.S. (Caroline), Fuchsberger, C. (Christian), Galesloot, T.E. (Tessel), Gieger, C. (Christian), Gögele, M. (Martin), Grandi, A. (Alessandro) de, Grarup, N. (Niels), Greiser, K.H. (Karin Halina), Haljas, K. (Kadri), Hansen, T. (Torben), Harris, S.E. (Sarah), Heemst, D. (Diana) van, Heijer, M. (Martin) den, Hicks, A.A. (Andrew A.), Hollander, W. (Wouter) den, Homuth, G. (Georg), Hui, J. (Jennie), Ikram, M.A. (Arfan), Ittermann, T. (Till), Jensen, R.A. (Richard A.), Jing, J. (Jiaojiao), Jukema, J.W. (Jan Wouter), Kajantie, E. (Eero), Kamatani, Y. (Yoichiro), Kasbohm, E. (Elisa), Kaufman, J.-M. (Jean-Marc), Kiemeney, L.A. (Lambertus A.), Kloppenburg, M. (Margreet), Kronenberg, F. (Florian), Kubo, M. (Michiaki), Lahti, J. (Jari), Lapauw, B. (Bruno), Li, S. (Shuo), Liewald, D.C.M. (David C. M.), Alizadeh, B.Z. (Behrooz), Boezen, H.M. (Marike), Franke, L. (Lude), van der Harst, P. (Pim), Navis, G. (Gerjan), Rots, M.G. (M.), Snieder, H. (Harold), Swertz, M.A. (Morris A.), Wijmenga, C. (Cisca), Lim, E.M. (Ee Mun), Linneberg, A. (Allan), Marina, M. (Michela), Mascalzoni, D. (Deborah), Matsuda, K. (Koichi), Medenwald, D. (Daniel), Meisinger, C. (Christa), Meulenbelt, I. (Ingrid), Meyer, T. (Thorsten), Meyer zu Schwabedissen, H.E. (Henriette E.), Mikolajczyk, R. (Rafael), Moed, H. (Heleen), Netea-Maier, R.T. (Romana), Nolte, I.M. (Ilja), Okada, Y. (Yukinori), Pala, M. (Mauro), Penninx, B.W.J.H., Pedersen, O. (Oluf), Petersmann, A. (Astrid), Porcu, E. (Eleonora), Postmus, D. (Douwe), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce), Ramos, Y.F.M. (Yolande F. M.), Rawal, R. (Rajesh), Redmond, P. (Paul), Richards, J.B. (Brent), Rietzschel, E.R. (Ernst), Rivadeneira Ramirez, F. (Fernando), Roef, G.L. (Greet), Rotter, J.I. (Jerome I.), Sala, C. (Cinzia), Schlessinger, D. (David), Selvin, E. (Elizabeth), Slagboom, P.E. (Eline), Soranzo, N. (Nicole), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Starr, J.M. (John), Stott, D.J. (David. J.), Taes, Y.E. (Youri), Taliun, D. (Daniel), Tanaka, T. (Toshiko), Thuesen, L. (Leif), Tiller, D. (Daniel), Toniolo, D. (Daniela), Uitterlinden, A.G. (Andre G.), Visser, W.E. (Edward), Walsh, J.P. (John P.), Wilson, S.G. (Scott), Wolffenbuttel, B.H.R. (Bruce), Yang, Q. (Qiong Fang), Zheng, H.-F. (Hou-Feng), Cappola, A.R. (Anne), Peeters, R.P. (Robin), Naitza, S. (Silvia), Völzke, H. (Henry), Sanna, S. (Serena), Köttgen, A. (Anna), Visser, T.J. (Theo), and Medici, M. (Marco)
Abstract: Thyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Many aspects of thyroid hormone regulation have only partly been elucidated, including its transport, metabolism, and genetic determinants. Here we report a large meta-analysis of genome-wide association studies for thyroid function and dysfunction, testing 8 million genetic variants in up to 72,167 individuals. One-hundred-and-nine independent genetic variants are associated with these traits. A genetic risk score, calculated to assess their combined effects on clinical end points, shows significant associations with increased risk of both overt (Graves’ disease) and subclinical thyroid disease, as well as clinical complications. By functional follow-up on selected signals, we identify a novel thyroid hormone transporter (SLC17A4) and a metabolizing enzyme (AADAT). Together, these results provide new knowledge about thyroid hormone physiology and disease, opening new possibilities for therapeutic targets.
Published: 2018
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81. Genome-wide identification of directed gene networks using large-scale population genomics data

Author: Luijk, R. (René), Dekkers, K.F. (Koen F.), Iterson, M. (Maarten) van, Arindrarto, W. (Wibowo), Claringbould, A. (Annique), Hop, P. (Paul), Beekman, M. (Marian), Breggen, R. (Ruud) van der, Deelen, J. (Joris), Lakenberg, N. (Nico), Moed, H. (Heleen), Suchiman, H.E.D. (Eka), van ’t Hof, P. (Peter), Bonder, M.J. (Marc), Deelen, P. (Patrick), Tigchelaar, E.F. (Ettje F.), Zhernakova, A. (Alexandra), Zhernakova, D.V. (Dasha V.), Dongen, J. (Jenny) van, Hottenga, J.J. (Jouke Jan), Pool, R. (Reńe), Isaacs, A. (Aaron), Hofman, B.A. (Bert A.), Jhamai, M. (Mila), Kallen, C.J. van der, Schalkwijk, C.G. (Casper), Stehouwer, C.D. (Coen), Berg, L.H. (Leonard) van den, Van Galen, M. (Michiel), Vermaat, M. (Martijn), van Rooij, J. (Jeroen), Uitterlinden, A.G. (André), Verbiest, M.M.P.J. (Michael), Verkerk, M. (Marijn), Kielbasa, P.S.M. (P. Szymon M.), Bot, J.J. (Jan), Nooren, I. (Irene), Dijk, F. (Freerk) van, Swertz, M.A. (Morris A.), Heemst, D. (Diana) van, Boomsma, D.I. (Dorret I.), Duijn, C.M. (Cornelia) van, Greevenbroek, M.M. van, Veldink, J.H. (Jan), Wijmenga, C. (Cisca), Franke, L. (Lude), ’t Hoen, P.A.C. (Peter A. C.), Jansen, R. (Rick), Meurs, J.B.J. (Joyce) van, Mei, H. (Hailiang), Slagboom, P.E. (Eline), Heijmans, B.T. (Bastiaan T.), Zwet, E.W. (Erik) van, Luijk, R. (René), Dekkers, K.F. (Koen F.), Iterson, M. (Maarten) van, Arindrarto, W. (Wibowo), Claringbould, A. (Annique), Hop, P. (Paul), Beekman, M. (Marian), Breggen, R. (Ruud) van der, Deelen, J. (Joris), Lakenberg, N. (Nico), Moed, H. (Heleen), Suchiman, H.E.D. (Eka), van ’t Hof, P. (Peter), Bonder, M.J. (Marc), Deelen, P. (Patrick), Tigchelaar, E.F. (Ettje F.), Zhernakova, A. (Alexandra), Zhernakova, D.V. (Dasha V.), Dongen, J. (Jenny) van, Hottenga, J.J. (Jouke Jan), Pool, R. (Reńe), Isaacs, A. (Aaron), Hofman, B.A. (Bert A.), Jhamai, M. (Mila), Kallen, C.J. van der, Schalkwijk, C.G. (Casper), Stehouwer, C.D. (Coen), Berg, L.H. (Leonard) van den, Van Galen, M. (Michiel), Vermaat, M. (Martijn), van Rooij, J. (Jeroen), Uitterlinden, A.G. (André), Verbiest, M.M.P.J. (Michael), Verkerk, M. (Marijn), Kielbasa, P.S.M. (P. Szymon M.), Bot, J.J. (Jan), Nooren, I. (Irene), Dijk, F. (Freerk) van, Swertz, M.A. (Morris A.), Heemst, D. (Diana) van, Boomsma, D.I. (Dorret I.), Duijn, C.M. (Cornelia) van, Greevenbroek, M.M. van, Veldink, J.H. (Jan), Wijmenga, C. (Cisca), Franke, L. (Lude), ’t Hoen, P.A.C. (Peter A. C.), Jansen, R. (Rick), Meurs, J.B.J. (Joyce) van, Mei, H. (Hailiang), Slagboom, P.E. (Eline), Heijmans, B.T. (Bastiaan T.), and Zwet, E.W. (Erik) van
Abstract: Identification of causal drivers behind regulatory gene networks is crucial in understanding gene function. Here, we develop a method for the large-scale inference of gene–gene interactions in observational population genomics data that are both directed (using local genetic instruments as causal anchors, akin to Mendelian Randomization) and specific (by controlling for linkage disequilibrium and pleiotropy). Analysis of genotype and whole-blood RNA-sequencing data from 3072 individuals identified 49 genes as drivers of downstream transcriptional changes (Wald P < 7 × 10−10), among which transcription factors were overrepresented (Fisher’s P = 3.3 × 10−7). Our analysis suggests new gene functions and targets, including for SENP7 (zinc-finger genes involved in retroviral repression) and BCL2A1 (target genes possibly involved in auditory dysfunction). Our work highlights the utility of population genomics data in deriving directed gene expression networks. A resource of trans-effects for all 6600 genes with a genetic instrument can be explored individually using a web-based browser.
Published: 2018
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82. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

Author: Teumer, A, Chaker, Layal, Groeneweg, Stefan, Li, Yi, Di Munno, Celia, Barbieri, C, Schultheiss, UT, Traglia, M, Ahluwalia, TS, Akiyama, M, Appel, EVR, Arking, DE, Arnold, A, Astrup, A, Beekman, M, Beilby, JP, Bekaert, S, Boerwinkle, E, Brown, SJ, de Buyzere, M, Campbell, PJ, Ceresini, G, Cerqueira, C, Cucca, F, Deary, IJ, Deelen, J, Eckardt, KU, Ekici, AB, Eriksson, JG, Ferrrucci, L, Fiers, T, Fiorillo, E, Ford, I, Fox, CS, Fuchsberger, C, Galesloot, TE, Gieger, C, Gogele, M, De Grandi, A, Grarup, N, Greiser, KH, Haljas, K, Hansen, T, Harris, SE, van Heemst, D, Heijer, M, Hicks, AA, den Hollander, W, Homuth, G, Hui, JN, Ikram, Arfan, Ittermann, T, Jensen, RA, Jing, J, Jukema, JW, Kajalltie, E, Kamatani, Y, Kasbohm, E, Kaufman, JM, Kiemeney, LA, Kloppenburg, M, Kronenberg, F, Kubo, M, Lahti, J, Lapauw, B, Li, S, Liewald, DCM, Lim, EM, Linneberg, A, Marina, M, Mascalzoni, D, Matsuda, K, Medenwald, D, Meisinger, C, Meulenbelt, I, Meyer, T, zu Schwabedissen, HEM, Mikolajczyk, R, Moed, M, Netea-Maier, RT, Nolte, IM, Okadah, Y, Pala, M, Pattaro, C, Pedersen, O, Petersmann, A, Porcu, E, Postmus, I, Pramstaller, PP, Psaty, BM, Ramos, YFM, Rawal, R, Redmond, P, Richards, JB, Rietzschel, ER, Rivadeneira, Fernando, Roef, G, Rotter, JI, Sala, CF, Schlessinger, D, Selvin, E, Slagboom, PE (Eline), Soranzo, N, Sorensen, TIA, Spector, TD, Starr, JM, Stott, DJ, Taes, Y, Taliun, D, Tanaka, T, Thuesen, B, Tiller, D, Toniolo, D, Uitterlinden, André, Visser, Edward, Walsh, JP, Wilson, SG, Wolffenbuttel, BHR, Yang, Q, Zheng, HF, Cappola, A, Peeters, Robin, Naitza, S, Volzke, H, Sanna, S, Kottgen, A, Visser, Theo, Medici, Marco, Teumer, A, Chaker, Layal, Groeneweg, Stefan, Li, Yi, Di Munno, Celia, Barbieri, C, Schultheiss, UT, Traglia, M, Ahluwalia, TS, Akiyama, M, Appel, EVR, Arking, DE, Arnold, A, Astrup, A, Beekman, M, Beilby, JP, Bekaert, S, Boerwinkle, E, Brown, SJ, de Buyzere, M, Campbell, PJ, Ceresini, G, Cerqueira, C, Cucca, F, Deary, IJ, Deelen, J, Eckardt, KU, Ekici, AB, Eriksson, JG, Ferrrucci, L, Fiers, T, Fiorillo, E, Ford, I, Fox, CS, Fuchsberger, C, Galesloot, TE, Gieger, C, Gogele, M, De Grandi, A, Grarup, N, Greiser, KH, Haljas, K, Hansen, T, Harris, SE, van Heemst, D, Heijer, M, Hicks, AA, den Hollander, W, Homuth, G, Hui, JN, Ikram, Arfan, Ittermann, T, Jensen, RA, Jing, J, Jukema, JW, Kajalltie, E, Kamatani, Y, Kasbohm, E, Kaufman, JM, Kiemeney, LA, Kloppenburg, M, Kronenberg, F, Kubo, M, Lahti, J, Lapauw, B, Li, S, Liewald, DCM, Lim, EM, Linneberg, A, Marina, M, Mascalzoni, D, Matsuda, K, Medenwald, D, Meisinger, C, Meulenbelt, I, Meyer, T, zu Schwabedissen, HEM, Mikolajczyk, R, Moed, M, Netea-Maier, RT, Nolte, IM, Okadah, Y, Pala, M, Pattaro, C, Pedersen, O, Petersmann, A, Porcu, E, Postmus, I, Pramstaller, PP, Psaty, BM, Ramos, YFM, Rawal, R, Redmond, P, Richards, JB, Rietzschel, ER, Rivadeneira, Fernando, Roef, G, Rotter, JI, Sala, CF, Schlessinger, D, Selvin, E, Slagboom, PE (Eline), Soranzo, N, Sorensen, TIA, Spector, TD, Starr, JM, Stott, DJ, Taes, Y, Taliun, D, Tanaka, T, Thuesen, B, Tiller, D, Toniolo, D, Uitterlinden, André, Visser, Edward, Walsh, JP, Wilson, SG, Wolffenbuttel, BHR, Yang, Q, Zheng, HF, Cappola, A, Peeters, Robin, Naitza, S, Volzke, H, Sanna, S, Kottgen, A, Visser, Theo, and Medici, Marco
Published: 2018

83. Facial Wrinkles in Europeans: A Genome-Wide Association Study

Author: Hamer, Merel, Pardo Cortes, Luba, Jacobs, Leonie, Deelen, J, Uitterlinden, André, Slagboom, E, van Heemst, D, Uh, HW, Beekman, M, Kayser, Manfred, Liu, Fan, Gunn, DA, Nijsten, Tamar, Hamer, Merel, Pardo Cortes, Luba, Jacobs, Leonie, Deelen, J, Uitterlinden, André, Slagboom, E, van Heemst, D, Uh, HW, Beekman, M, Kayser, Manfred, Liu, Fan, Gunn, DA, and Nijsten, Tamar
Published: 2018

84. Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels

Author: Jiang, X, O'Reilly, PF, Aschard, H, Hsu, YH, Richards, JB, Dupuis, J, Ingelsson, E, Karasik, D, Pilz, S, Berry, D, Kestenbaum, B, Zheng, JS, Luan, JN, Sofianopoulou, E, Streeten, EA, Albanes, D, Lutsey, PL, Yao, L, Tang, WH, Econs, MJ, Wallaschofski, H, Volzke, H, Zhou, A, Power, C, McCarthy, MI, Michos, ED, Boerwinkle, E, Weinstein, SJ, Freedman, N D, Huang, WY, Schoor, NM, van der Velde, Nathalie, de Groot, LCPGM (Lisette), Enneman, Anke, Cupples, LA, Booth, SL, Vasan, RS, Liu, CT, Zhou, YH, Ripatti, S, Ohlsson, C, Vandenput, L, Lorentzon, M, Eriksson, JG, Shea, MK, Houston, DK, Kritchevsky, SB, Liu, YM, Lohman, KK, Ferrucci, L, Peacock, M, Gieger, C, Beekman, M, Slagboom, E, Deelen, J, van Heemst, D, Kleber, ME, Marz, W, Boer, IH (Ian), Wood, AC, Rotter, JI, Rich, SS, Robinson-Cohen, C, Heijer, Mariska, Jarvelin, MR, Cavadino, A, Joshi, PK, Wilson, JF, Hayward, C, Lind, L, Michaelsson, K, Trompet, S, Zillikens, M.C., Uitterlinden, André, Rivadeneira, Fernando, Broer, Linda, Zgaga, L, Campbell, H, Theodoratou, E, Farrington, SM, Timofeeva, M, Dunlop, MG, Valdes, AM, Tikkanen, E, Lehtimaki, T, Lyytikainen, LP, Kahonen, M, Raitakari, OT, Mikkila, V, Ikram, Arfan, Sattar, N, Jukema, JW, Wareham, NJ, Langenberg, C, Forouhi, NG, Gundersen, TE, Khaw, KT, Butterworth, AS, Danesh, J, Spector, T, Wang, TJ, Hypponen, E, Kraft, P, Kiel, DP, Jiang, X, O'Reilly, PF, Aschard, H, Hsu, YH, Richards, JB, Dupuis, J, Ingelsson, E, Karasik, D, Pilz, S, Berry, D, Kestenbaum, B, Zheng, JS, Luan, JN, Sofianopoulou, E, Streeten, EA, Albanes, D, Lutsey, PL, Yao, L, Tang, WH, Econs, MJ, Wallaschofski, H, Volzke, H, Zhou, A, Power, C, McCarthy, MI, Michos, ED, Boerwinkle, E, Weinstein, SJ, Freedman, N D, Huang, WY, Schoor, NM, van der Velde, Nathalie, de Groot, LCPGM (Lisette), Enneman, Anke, Cupples, LA, Booth, SL, Vasan, RS, Liu, CT, Zhou, YH, Ripatti, S, Ohlsson, C, Vandenput, L, Lorentzon, M, Eriksson, JG, Shea, MK, Houston, DK, Kritchevsky, SB, Liu, YM, Lohman, KK, Ferrucci, L, Peacock, M, Gieger, C, Beekman, M, Slagboom, E, Deelen, J, van Heemst, D, Kleber, ME, Marz, W, Boer, IH (Ian), Wood, AC, Rotter, JI, Rich, SS, Robinson-Cohen, C, Heijer, Mariska, Jarvelin, MR, Cavadino, A, Joshi, PK, Wilson, JF, Hayward, C, Lind, L, Michaelsson, K, Trompet, S, Zillikens, M.C., Uitterlinden, André, Rivadeneira, Fernando, Broer, Linda, Zgaga, L, Campbell, H, Theodoratou, E, Farrington, SM, Timofeeva, M, Dunlop, MG, Valdes, AM, Tikkanen, E, Lehtimaki, T, Lyytikainen, LP, Kahonen, M, Raitakari, OT, Mikkila, V, Ikram, Arfan, Sattar, N, Jukema, JW, Wareham, NJ, Langenberg, C, Forouhi, NG, Gundersen, TE, Khaw, KT, Butterworth, AS, Danesh, J, Spector, T, Wang, TJ, Hypponen, E, Kraft, P, and Kiel, DP
Published: 2018

85. Biological interpretation of genome-wide association studies using predicted gene functions

Author: Pers, T, Karjalainen, J, Chan, Y, Westra, H, Wood, A, Yang, J, Lui, J, Vedantam, S, Gustafsson, S, Esko, T, Frayling, T, Speliotes, E, Boehnke, M, Raychaudhuri, S, Fehrmann, R, Hirschhorn, J, Franke, L, Chu, A, Estrada, K, Luan, J, Kutalik, Z, Amin, N, Buchkovich, M, Croteau Chonka, D, Day, F, Duan, Y, Fall, T, Ferreira, T, Jackson, A, Lo, K, Locke, A, Mägi, R, Mihailov, E, Porcu, E, Randall, J, Scherag, A, Vinkhuyzen, A, Winkler, T, Workalemahu, T, Zhao, J, Absher, D, Albrecht, E, Anderson, D, Baron, J, Beekman, M, Demirkan, A, Ehret, G, Feenstra, B, Feitosa, M, Fischer, K, Fraser, R, Goel, A, Gong, J, Justice, E, Kanoni, S, Kleber, M, Kristiansson, K, Lim, U, Lotay, V, Mangino, M, Mateo Leach, I, Medina Gomez, C, Nalls, M, Nyholt, D, Palmer, C, Pasko, D, Pechlivanis, S, Prokopenko, I, Ried, J, Ripke, S, Shungin, D, Stancáková, A, Strawbridge, R, Sung, Y, Tanaka, T, Teumer, A, Trompet, S, van der Laan, S, van Setten, J, Van Vliet Ostaptchouk, J, Wang, Z, Yengo, L, Zhang, W, Afzal, U, Ärnlöv, J, Arscott, G, Bandinelli, S, Barrett, A, Bellis, C, Bennett, A, Berne, C, Blüher, M, Bolton, J, Böttcher, Y, Boyd, H, Bruinenberg, M, Buckley, B, Buyske, S, Caspersen, I, Chines, P, Clarke, R, Claudi Boehm, S, Cooper, M, Daw, E, De Jong, A, Deelen, J, Delgado, G, Denny, J, Dhonukshe Rutten, R, Dimitriou, M, Doney, A, Dörr, M, Eklund, N, Eury, E, Folkersen, L, Garcia, M, Geller, F, Giedraitis, V, Go, A, Grallert, H, Grammer, T, Gräßler, J, Grönberg, H, de Groot, L, Groves, C, Haessler, J, Haller, T, Hallmans, G, Hannemann, A, Hartman, C, Hassinen, M, Hayward, C, Heard Costa, N, Helmer, Q, Hemani, G, Henders, A, Hillege, H, Hlatky, M, Hoffmann, W, Hoffmann, P, Holmen, O, Houwing Duistermaat, J, Illig, T, Isaacs, A, James, A, Jeff, J, Johansen, B, Johansson, Å, Jolley, J, Juliusdottir, T, Junttila, J, Kho, A, Kinnunen, L, Klopp, N, Kocher, T, Kratzer, W, Lichtner, P, Lind, L, Lindström, J, Lobbens, S, Lorentzon, M, Lu, Y, Lyssenko, V, Magnusson, P, Mahajan, A, Maillard, M, Mcardle, W, Mckenzie, C, Mclachlan, S, Mclaren, P, Menni, C, Merger, S, Milani, L, Moayyeri, A, Monda, K, Morken, M, Müller, G, Müller Nurasyid, M, Musk, A, Narisu, N, Nauck, M, Nolte, I, Nöthen, M, Oozageer, L, Pilz, S, Rayner, N, Renstrom, F, Robertson, N, Rose, L, Roussel, R, Sanna, S, Scharnagl, H, Scholtens, S, Schumacher, F, Schunkert, H, Scott, R, Sehmi, J, Seufferlein, T, Shi, J, Silventoinen, K, Smit, J, Smith, A, Smolonska, J, Stanton, A, Stirrups, K, Stott, D, Stringham, H, Sundström, J, Swertz, M, Syvänen, A, Tayo, B, Thorleifsson, G, Tyrer, J, van Dijk, S, van Schoor, N, van der Velde, N, van Heemst, D, van Oort, F, Vermeulen, S, Verweij, N, Vonk, J, Waite, L, Waldenberger, M, Wennauer, R, Wilkens, L, Willenborg, C, Wilsgaard, T, Wojczynski, M, Wong, A, Wright, A, Zhang, Q, Arveiler, D, Bakker, S, Beilby, J, Bergman, R, Bergmann, S, Biffar, R, Blangero, J, Boomsma, I, Bornstein, S, Bovet, P, Brambilla, P, Brown, M, Campbell, H, Caulfield, M, Chakravarti, A, Collins, R, Collins, F, Crawford, D, Cupples, L, Danesh, J, de Faire, U, den Ruijter, H, Erbel, R, Erdmann, J, Eriksson, J, Farrall, M, Ferrannini, E, Ferrières, J, Ford, I, Forouhi, N, Forrester, T, Gansevoort, R, Gejman, P, Gieger, C, Golay, A, Gottesman, O, Gudnason, V, Gyllensten, U, Haas, D, Hall, A, Harris, T, Hattersley, A, Heath, A, Hengstenberg, C, Hicks, A, Hindorff, L, Hingorani, A, Hofman, A, Hovingh, G, Humphries, S, Hunt, S, Hypponen, E, Jacobs, K, Jarvelin, M, Jousilahti, P, Jula, A, Kaprio, J, Kastelein, J, Kayser, M, Kee, F, Keinanen Kiukaanniemi, S, Kiemeney, L, Kooner, J, Kooperberg, C, Koskinen, S, Kovacs, P, Kraja, A, Kumari, M, Kuusisto, J, Lakka, T, Langenberg, C, Le Marchand, L, Lehtimäki, T, Lupoli, S, Madden, P, Männistö, S, Manunta, P, Marette, A, Matise, T, Mcknight, B, Meitinger, T, Moll, F, Montgomery, G, Morris, A, Murray, J, Nelis, M, Ohlsson, C, Oldehinkel, A, Ong, K, Ouwehand, W, Pasterkamp, G, Peters, A, Pramstaller, P, Price, J, Qi, L, Raitakari, O, Rankinen, T, Rao, D, Rice, T, Ritchie, M, Rudan, I, Salomaa, V, Samani, N, Saramies, J, Sarzynski, M, Schwarz, P, Sebert, S, Sever, P, Shuldiner, A, Sinisalo, J, Steinthorsdottir, V, Stolk, R, Tardif, J, Tönjes, A, Tremblay, A, Tremoli, E, Virtamo, J, Vohl, M, Amouyel, P, Asselbergs, F, Assimes, T, Bochud, M, Boehm, B, Boerwinkle, E, Bottinger, E, Bouchard, C, Cauchi, S, Chambers, J, Chanock, S, Cooper, R, de Bakker, P, Dedoussis, G, Ferrucci, L, Franks, P, Froguel, P, Groop, L, Haiman, C, Hamsten, A, Hayes, M, Hui, J, Hunter, D, Hveem, K, Jukema, J, Kaplan, R, Kivimaki, M, Kuh, D, Laakso, M, Liu, Y, Martin, N, März, W, Melbye, M, Moebus, S, Munroe, P, Njølstad, I, Oostra, B, Pedersen, N, Perola, M, Pérusse, L, Peters, U, Powell, J, Power, C, Quertermous, T, Rauramaa, R, Reinmaa, E, Ridker, P, Rivadeneira, F, Rotter, J, Saaristo, T, Saleheen, D, Schlessinger, D, Slagboom, P, Snieder, H, Spector, T, Strauch, K, Stumvoll, M, Tuomilehto, J, Uusitupa, M, van der Harst, P, Völzke, H, Walker, M, Wareham, N, Watkins, H, Wichmann, H, Wilson, J, Zanen, P, Deloukas, P, Heid, I, Lindgren, C, Mohlke, K, Thorsteinsdottir, U, Barroso, I, Fox, C, North, K, Strachan, D, Beckmann, J, Berndt, S, Borecki, I, Mccarthy, M, Metspalu, A, Stefansson, K, Uitterlinden, A, van Duijn, C, Willer, C, Price, A, Lettre, G, Loos, R, Weedon, M, Ingelsson, E, O'Connell, J, Abecasis, G, Chasman, D, Goddard, M, Visscher, P, Pers TH, Karjalainen JM, Chan Y, Westra HJ, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, Frayling T, Speliotes EK, Boehnke M, Raychaudhuri S, Fehrmann RS, Hirschhorn JN, Franke L, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau Chonka DC, Day FR, Duan Y, Fall T, Fehrmann R, Ferreira T, Jackson AU, Karjalainen J, Lo KS, Locke AE, Mägi R, Mihailov E, Porcu E, Randall JC, Scherag A, Vinkhuyzen AA, Winkler TW, Workalemahu T, Zhao JH, Absher D, Albrecht E, Anderson D, Baron J, Beekman M, Demirkan A, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Fraser RM, Goel A, Gong J, Justice E, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Mangino M, Mateo Leach I, Medina Gomez C, Nalls MA, Nyholt DR, Palmer CD, Pasko D, Pechlivanis S, Prokopenko I, Ried JS, Ripke S, Shungin D, Stancáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Afzal U, Ärnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Bolton JL, Böttcher Y, Boyd HA, Bruinenberg M, Buckley BM, Buyske S, Caspersen IH, Chines PS, Clarke R, Claudi Boehm S, Cooper M, Daw EW, De Jong A, Deelen J, Delgado G, Denny JC, Dhonukshe Rutten R, Dimitriou M, Doney AS, Dörr M, Eklund N, Eury E, Folkersen L, Garcia ME, Geller F, Giedraitis V, Go AS, Grallert H, Grammer TB, Gräßler J, Grönberg H, de Groot LC, Groves CJ, Haessler J, Haller T, Hallmans G, Hannemann A, Hartman CA, Hassinen M, Hayward C, Heard Costa NL, Helmer Q, Hemani G, Henders AK, Hillege HL, Hlatky MA, Hoffmann W, Hoffmann P, Holmen O, Houwing Duistermaat JJ, Illig T, Isaacs A, James AL, Jeff J, Johansen B, Johansson Å, Jolley J, Juliusdottir T, Junttila J, Kho AN, Kinnunen L, Klopp N, Kocher T, Kratzer W, Lichtner P, Lind L, Lindström J, Lobbens S, Lorentzon M, Lu Y, Lyssenko V, Magnusson PK, Mahajan A, Maillard M, McArdle WL, McKenzie CA, McLachlan S, McLaren PJ, Menni C, Merger S, Milani L, Moayyeri A, Monda KL, Morken MA, Müller G, Müller Nurasyid M, Musk AW, Narisu N, Nauck M, Nolte IM, Nöthen MM, Oozageer L, Pilz S, Rayner NW, Renstrom F, Robertson NR, Rose LM, Roussel R, Sanna S, Scharnagl H, Scholtens S, Schumacher FR, Schunkert H, Scott RA, Sehmi J, Seufferlein T, Shi J, Silventoinen K, Smit JH, Smith AV, Smolonska J, Stanton AV, Stirrups K, Stott DJ, Stringham HM, Sundström J, Swertz MA, Syvänen AC, Tayo BO, Thorleifsson G, Tyrer JP, van Dijk S, van Schoor NM, van der Velde N, van Heemst D, van Oort FV, Vermeulen SH, Verweij N, Vonk JM, Waite LL, Waldenberger M, Wennauer R, Wilkens LR, Willenborg C, Wilsgaard T, Wojczynski MK, Wong A, Wright AF, Zhang Q, Arveiler D, Bakker SJ, Beilby J, Bergman RN, Bergmann S, Biffar R, Blangero J, Boomsma I, Bornstein SR, Bovet P, BRAMBILLA, PAOLO, Brown MJ, Campbell H, Caulfield MJ, Chakravarti A, Collins R, Collins FS, Crawford DC, Cupples LA, Danesh J, de Faire U, den Ruijter HM, Erbel R, Erdmann J, Eriksson JG, Farrall M, Ferrannini E, Ferrières J, Ford I, Forouhi NG, Forrester T, Gansevoort RT, Gejman PV, Gieger C, Golay A, Gottesman O, Gudnason V, Gyllensten U, Haas DW, Hall AS, Harris TB, Hattersley AT, Heath AC, Hengstenberg C, Hicks AA, Hindorff LA, Hingorani AD, Hofman A, Hovingh GK, Humphries SE, Hunt SC, Hypponen E, Jacobs KB, Jarvelin MR, Jousilahti P, Jula AM, Kaprio J, Kastelein JJ, Kayser M, Kee F, Keinanen Kiukaanniemi SM, Kiemeney LA, Kooner JS, Kooperberg C, Koskinen S, Kovacs P, Kraja AT, Kumari M, Kuusisto J, Lakka TA, Langenberg C, Le Marchand L, Lehtimäki T, Lupoli S, Madden PA, Männistö S, Manunta P, Marette A, Matise TC, McKnight B, Meitinger T, Moll FL, Montgomery GW, Morris AD, Morris AP, Murray JC, Nelis M, Ohlsson C, Oldehinkel AJ, Ong KK, Ouwehand WH, Pasterkamp G, Peters A, Pramstaller PP, Price JF, Qi L, Raitakari OT, Rankinen T, Rao DC, Rice TK, Ritchie M, Rudan I, Salomaa V, Samani NJ, Saramies J, Sarzynski MA, Schwarz PE, Sebert S, Sever P, Shuldiner AR, Sinisalo J, Steinthorsdottir V, Stolk RP, Tardif JC, Tönjes A, Tremblay A, Tremoli E, Virtamo J, Vohl MC, Amouyel P, Asselbergs FW, Assimes TL, Bochud M, Boehm BO, Boerwinkle E, Bottinger EP, Bouchard C, Cauchi S, Chambers JC, Chanock SJ, Cooper RS, de Bakker PI, Dedoussis G, Ferrucci L, Franks PW, Froguel P, Groop LC, Haiman CA, Hamsten A, Hayes MG, Hui J, Hunter DJ, Hveem K, Jukema JW, Kaplan RC, Kivimaki M, Kuh D, Laakso M, Liu Y, Martin NG, März W, Melbye M, Moebus S, Munroe PB, Njølstad I, Oostra BA, Palmer CN, Pedersen NL, Perola M, Pérusse L, Peters U, Powell JE, Power C, Quertermous T, Rauramaa R, Reinmaa E, Ridker PM, Rivadeneira F, Rotter JI, Saaristo TE, Saleheen D, Schlessinger D, Slagboom PE, Snieder H, Spector TD, Strauch K, Stumvoll M, Tuomilehto J, Uusitupa M, van der Harst P, Völzke H, Walker M, Wareham NJ, Watkins H, Wichmann HE, Wilson JF, Zanen P, Deloukas P, Heid IM, Lindgren CM, Mohlke KL, Thorsteinsdottir U, Barroso I, Fox CS, North KE, Strachan DP, Beckmann JS, Berndt SI, Borecki IB, McCarthy MI, Metspalu A, Stefansson K, Uitterlinden AG, van Duijn CM, Willer CJ, Price AL, Lettre G, Loos RJ, Weedon MN, Ingelsson E, O'Connell JR, Abecasis GR, Chasman DI, Goddard ME, Visscher PM, Frayling T.M., Pers, T, Karjalainen, J, Chan, Y, Westra, H, Wood, A, Yang, J, Lui, J, Vedantam, S, Gustafsson, S, Esko, T, Frayling, T, Speliotes, E, Boehnke, M, Raychaudhuri, S, Fehrmann, R, Hirschhorn, J, Franke, L, Chu, A, Estrada, K, Luan, J, Kutalik, Z, Amin, N, Buchkovich, M, Croteau Chonka, D, Day, F, Duan, Y, Fall, T, Ferreira, T, Jackson, A, Lo, K, Locke, A, Mägi, R, Mihailov, E, Porcu, E, Randall, J, Scherag, A, Vinkhuyzen, A, Winkler, T, Workalemahu, T, Zhao, J, Absher, D, Albrecht, E, Anderson, D, Baron, J, Beekman, M, Demirkan, A, Ehret, G, Feenstra, B, Feitosa, M, Fischer, K, Fraser, R, Goel, A, Gong, J, Justice, E, Kanoni, S, Kleber, M, Kristiansson, K, Lim, U, Lotay, V, Mangino, M, Mateo Leach, I, Medina Gomez, C, Nalls, M, Nyholt, D, Palmer, C, Pasko, D, Pechlivanis, S, Prokopenko, I, Ried, J, Ripke, S, Shungin, D, Stancáková, A, Strawbridge, R, Sung, Y, Tanaka, T, Teumer, A, Trompet, S, van der Laan, S, van Setten, J, Van Vliet Ostaptchouk, J, Wang, Z, Yengo, L, Zhang, W, Afzal, U, Ärnlöv, J, Arscott, G, Bandinelli, S, Barrett, A, Bellis, C, Bennett, A, Berne, C, Blüher, M, Bolton, J, Böttcher, Y, Boyd, H, Bruinenberg, M, Buckley, B, Buyske, S, Caspersen, I, Chines, P, Clarke, R, Claudi Boehm, S, Cooper, M, Daw, E, De Jong, A, Deelen, J, Delgado, G, Denny, J, Dhonukshe Rutten, R, Dimitriou, M, Doney, A, Dörr, M, Eklund, N, Eury, E, Folkersen, L, Garcia, M, Geller, F, Giedraitis, V, Go, A, Grallert, H, Grammer, T, Gräßler, J, Grönberg, H, de Groot, L, Groves, C, Haessler, J, Haller, T, Hallmans, G, Hannemann, A, Hartman, C, Hassinen, M, Hayward, C, Heard Costa, N, Helmer, Q, Hemani, G, Henders, A, Hillege, H, Hlatky, M, Hoffmann, W, Hoffmann, P, Holmen, O, Houwing Duistermaat, J, Illig, T, Isaacs, A, James, A, Jeff, J, Johansen, B, Johansson, Å, Jolley, J, Juliusdottir, T, Junttila, J, Kho, A, Kinnunen, L, Klopp, N, Kocher, T, Kratzer, W, Lichtner, P, Lind, L, Lindström, J, Lobbens, S, Lorentzon, M, Lu, Y, Lyssenko, V, Magnusson, P, Mahajan, A, Maillard, M, Mcardle, W, Mckenzie, C, Mclachlan, S, Mclaren, P, Menni, C, Merger, S, Milani, L, Moayyeri, A, Monda, K, Morken, M, Müller, G, Müller Nurasyid, M, Musk, A, Narisu, N, Nauck, M, Nolte, I, Nöthen, M, Oozageer, L, Pilz, S, Rayner, N, Renstrom, F, Robertson, N, Rose, L, Roussel, R, Sanna, S, Scharnagl, H, Scholtens, S, Schumacher, F, Schunkert, H, Scott, R, Sehmi, J, Seufferlein, T, Shi, J, Silventoinen, K, Smit, J, Smith, A, Smolonska, J, Stanton, A, Stirrups, K, Stott, D, Stringham, H, Sundström, J, Swertz, M, Syvänen, A, Tayo, B, Thorleifsson, G, Tyrer, J, van Dijk, S, van Schoor, N, van der Velde, N, van Heemst, D, van Oort, F, Vermeulen, S, Verweij, N, Vonk, J, Waite, L, Waldenberger, M, Wennauer, R, Wilkens, L, Willenborg, C, Wilsgaard, T, Wojczynski, M, Wong, A, Wright, A, Zhang, Q, Arveiler, D, Bakker, S, Beilby, J, Bergman, R, Bergmann, S, Biffar, R, Blangero, J, Boomsma, I, Bornstein, S, Bovet, P, Brambilla, P, Brown, M, Campbell, H, Caulfield, M, Chakravarti, A, Collins, R, Collins, F, Crawford, D, Cupples, L, Danesh, J, de Faire, U, den Ruijter, H, Erbel, R, Erdmann, J, Eriksson, J, Farrall, M, Ferrannini, E, Ferrières, J, Ford, I, Forouhi, N, Forrester, T, Gansevoort, R, Gejman, P, Gieger, C, Golay, A, Gottesman, O, Gudnason, V, Gyllensten, U, Haas, D, Hall, A, Harris, T, Hattersley, A, Heath, A, Hengstenberg, C, Hicks, A, Hindorff, L, Hingorani, A, Hofman, A, Hovingh, G, Humphries, S, Hunt, S, Hypponen, E, Jacobs, K, Jarvelin, M, Jousilahti, P, Jula, A, Kaprio, J, Kastelein, J, Kayser, M, Kee, F, Keinanen Kiukaanniemi, S, Kiemeney, L, Kooner, J, Kooperberg, C, Koskinen, S, Kovacs, P, Kraja, A, Kumari, M, Kuusisto, J, Lakka, T, Langenberg, C, Le Marchand, L, Lehtimäki, T, Lupoli, S, Madden, P, Männistö, S, Manunta, P, Marette, A, Matise, T, Mcknight, B, Meitinger, T, Moll, F, Montgomery, G, Morris, A, Murray, J, Nelis, M, Ohlsson, C, Oldehinkel, A, Ong, K, Ouwehand, W, Pasterkamp, G, Peters, A, Pramstaller, P, Price, J, Qi, L, Raitakari, O, Rankinen, T, Rao, D, Rice, T, Ritchie, M, Rudan, I, Salomaa, V, Samani, N, Saramies, J, Sarzynski, M, Schwarz, P, Sebert, S, Sever, P, Shuldiner, A, Sinisalo, J, Steinthorsdottir, V, Stolk, R, Tardif, J, Tönjes, A, Tremblay, A, Tremoli, E, Virtamo, J, Vohl, M, Amouyel, P, Asselbergs, F, Assimes, T, Bochud, M, Boehm, B, Boerwinkle, E, Bottinger, E, Bouchard, C, Cauchi, S, Chambers, J, Chanock, S, Cooper, R, de Bakker, P, Dedoussis, G, Ferrucci, L, Franks, P, Froguel, P, Groop, L, Haiman, C, Hamsten, A, Hayes, M, Hui, J, Hunter, D, Hveem, K, Jukema, J, Kaplan, R, Kivimaki, M, Kuh, D, Laakso, M, Liu, Y, Martin, N, März, W, Melbye, M, Moebus, S, Munroe, P, Njølstad, I, Oostra, B, Pedersen, N, Perola, M, Pérusse, L, Peters, U, Powell, J, Power, C, Quertermous, T, Rauramaa, R, Reinmaa, E, Ridker, P, Rivadeneira, F, Rotter, J, Saaristo, T, Saleheen, D, Schlessinger, D, Slagboom, P, Snieder, H, Spector, T, Strauch, K, Stumvoll, M, Tuomilehto, J, Uusitupa, M, van der Harst, P, Völzke, H, Walker, M, Wareham, N, Watkins, H, Wichmann, H, Wilson, J, Zanen, P, Deloukas, P, Heid, I, Lindgren, C, Mohlke, K, Thorsteinsdottir, U, Barroso, I, Fox, C, North, K, Strachan, D, Beckmann, J, Berndt, S, Borecki, I, Mccarthy, M, Metspalu, A, Stefansson, K, Uitterlinden, A, van Duijn, C, Willer, C, Price, A, Lettre, G, Loos, R, Weedon, M, Ingelsson, E, O'Connell, J, Abecasis, G, Chasman, D, Goddard, M, Visscher, P, Pers TH, Karjalainen JM, Chan Y, Westra HJ, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, Frayling T, Speliotes EK, Boehnke M, Raychaudhuri S, Fehrmann RS, Hirschhorn JN, Franke L, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau Chonka DC, Day FR, Duan Y, Fall T, Fehrmann R, Ferreira T, Jackson AU, Karjalainen J, Lo KS, Locke AE, Mägi R, Mihailov E, Porcu E, Randall JC, Scherag A, Vinkhuyzen AA, Winkler TW, Workalemahu T, Zhao JH, Absher D, Albrecht E, Anderson D, Baron J, Beekman M, Demirkan A, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Fraser RM, Goel A, Gong J, Justice E, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Mangino M, Mateo Leach I, Medina Gomez C, Nalls MA, Nyholt DR, Palmer CD, Pasko D, Pechlivanis S, Prokopenko I, Ried JS, Ripke S, Shungin D, Stancáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Afzal U, Ärnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Bolton JL, Böttcher Y, Boyd HA, Bruinenberg M, Buckley BM, Buyske S, Caspersen IH, Chines PS, Clarke R, Claudi Boehm S, Cooper M, Daw EW, De Jong A, Deelen J, Delgado G, Denny JC, Dhonukshe Rutten R, Dimitriou M, Doney AS, Dörr M, Eklund N, Eury E, Folkersen L, Garcia ME, Geller F, Giedraitis V, Go AS, Grallert H, Grammer TB, Gräßler J, Grönberg H, de Groot LC, Groves CJ, Haessler J, Haller T, Hallmans G, Hannemann A, Hartman CA, Hassinen M, Hayward C, Heard Costa NL, Helmer Q, Hemani G, Henders AK, Hillege HL, Hlatky MA, Hoffmann W, Hoffmann P, Holmen O, Houwing Duistermaat JJ, Illig T, Isaacs A, James AL, Jeff J, Johansen B, Johansson Å, Jolley J, Juliusdottir T, Junttila J, Kho AN, Kinnunen L, Klopp N, Kocher T, Kratzer W, Lichtner P, Lind L, Lindström J, Lobbens S, Lorentzon M, Lu Y, Lyssenko V, Magnusson PK, Mahajan A, Maillard M, McArdle WL, McKenzie CA, McLachlan S, McLaren PJ, Menni C, Merger S, Milani L, Moayyeri A, Monda KL, Morken MA, Müller G, Müller Nurasyid M, Musk AW, Narisu N, Nauck M, Nolte IM, Nöthen MM, Oozageer L, Pilz S, Rayner NW, Renstrom F, Robertson NR, Rose LM, Roussel R, Sanna S, Scharnagl H, Scholtens S, Schumacher FR, Schunkert H, Scott RA, Sehmi J, Seufferlein T, Shi J, Silventoinen K, Smit JH, Smith AV, Smolonska J, Stanton AV, Stirrups K, Stott DJ, Stringham HM, Sundström J, Swertz MA, Syvänen AC, Tayo BO, Thorleifsson G, Tyrer JP, van Dijk S, van Schoor NM, van der Velde N, van Heemst D, van Oort FV, Vermeulen SH, Verweij N, Vonk JM, Waite LL, Waldenberger M, Wennauer R, Wilkens LR, Willenborg C, Wilsgaard T, Wojczynski MK, Wong A, Wright AF, Zhang Q, Arveiler D, Bakker SJ, Beilby J, Bergman RN, Bergmann S, Biffar R, Blangero J, Boomsma I, Bornstein SR, Bovet P, BRAMBILLA, PAOLO, Brown MJ, Campbell H, Caulfield MJ, Chakravarti A, Collins R, Collins FS, Crawford DC, Cupples LA, Danesh J, de Faire U, den Ruijter HM, Erbel R, Erdmann J, Eriksson JG, Farrall M, Ferrannini E, Ferrières J, Ford I, Forouhi NG, Forrester T, Gansevoort RT, Gejman PV, Gieger C, Golay A, Gottesman O, Gudnason V, Gyllensten U, Haas DW, Hall AS, Harris TB, Hattersley AT, Heath AC, Hengstenberg C, Hicks AA, Hindorff LA, Hingorani AD, Hofman A, Hovingh GK, Humphries SE, Hunt SC, Hypponen E, Jacobs KB, Jarvelin MR, Jousilahti P, Jula AM, Kaprio J, Kastelein JJ, Kayser M, Kee F, Keinanen Kiukaanniemi SM, Kiemeney LA, Kooner JS, Kooperberg C, Koskinen S, Kovacs P, Kraja AT, Kumari M, Kuusisto J, Lakka TA, Langenberg C, Le Marchand L, Lehtimäki T, Lupoli S, Madden PA, Männistö S, Manunta P, Marette A, Matise TC, McKnight B, Meitinger T, Moll FL, Montgomery GW, Morris AD, Morris AP, Murray JC, Nelis M, Ohlsson C, Oldehinkel AJ, Ong KK, Ouwehand WH, Pasterkamp G, Peters A, Pramstaller PP, Price JF, Qi L, Raitakari OT, Rankinen T, Rao DC, Rice TK, Ritchie M, Rudan I, Salomaa V, Samani NJ, Saramies J, Sarzynski MA, Schwarz PE, Sebert S, Sever P, Shuldiner AR, Sinisalo J, Steinthorsdottir V, Stolk RP, Tardif JC, Tönjes A, Tremblay A, Tremoli E, Virtamo J, Vohl MC, Amouyel P, Asselbergs FW, Assimes TL, Bochud M, Boehm BO, Boerwinkle E, Bottinger EP, Bouchard C, Cauchi S, Chambers JC, Chanock SJ, Cooper RS, de Bakker PI, Dedoussis G, Ferrucci L, Franks PW, Froguel P, Groop LC, Haiman CA, Hamsten A, Hayes MG, Hui J, Hunter DJ, Hveem K, Jukema JW, Kaplan RC, Kivimaki M, Kuh D, Laakso M, Liu Y, Martin NG, März W, Melbye M, Moebus S, Munroe PB, Njølstad I, Oostra BA, Palmer CN, Pedersen NL, Perola M, Pérusse L, Peters U, Powell JE, Power C, Quertermous T, Rauramaa R, Reinmaa E, Ridker PM, Rivadeneira F, Rotter JI, Saaristo TE, Saleheen D, Schlessinger D, Slagboom PE, Snieder H, Spector TD, Strauch K, Stumvoll M, Tuomilehto J, Uusitupa M, van der Harst P, Völzke H, Walker M, Wareham NJ, Watkins H, Wichmann HE, Wilson JF, Zanen P, Deloukas P, Heid IM, Lindgren CM, Mohlke KL, Thorsteinsdottir U, Barroso I, Fox CS, North KE, Strachan DP, Beckmann JS, Berndt SI, Borecki IB, McCarthy MI, Metspalu A, Stefansson K, Uitterlinden AG, van Duijn CM, Willer CJ, Price AL, Lettre G, Loos RJ, Weedon MN, Ingelsson E, O'Connell JR, Abecasis GR, Chasman DI, Goddard ME, Visscher PM, and Frayling T.M.
Abstract: The main challenge for gaining biological insights from genetic associations is identifying which genes and pathways explain the associations. Here we present DEPICT, an integrative tool that employs predicted gene functions to systematically prioritize the most likely causal genes at associated loci, highlight enriched pathways and identify tissues/cell types where genes from associated loci are highly expressed. DEPICT is not limited to genes with established functions and prioritizes relevant gene sets for many phenotypes.
Published: 2015

86. The complex genetics of gait speed: genome-wide meta-analysis approach (vol 9, pg 209, 2017)

Author: Ben-Avraham, D., Karasik, D., Verghese, J., Lunetta, K.L., Smith, J.A., Eicher, J.D., Vered, R., Deelen, J., Arnold, A.M., Buchman, A.S., Tanaka, T., Faul, J.D., Nethander, M., Fornage, M., Adams, H.H., Matteini, A.M., Callisaya, M.L., Smith, A.V., Yu, L., Jager, P.L. de, Evans, D.A., Gudnason, V., Hofman, A., Pattie, A., Corley, J., Launer, L.J., Knopman, D.S., Parimi, N., Turner, S.T., Bandinelli, S., Beekman, M., Gutman, D., Sharvit, L., Mooijaart, S.P., Liewald, D.C., Houwing-Duistermaat, J.J., Ohlsson, C., Moed, M., Verlinden, V.J., Mellstrom, D., Geest, J.N. van der, Karlsson, M., Hernandez, D., McWhirter, R., Liu, Y.M., Thomson, R., Tranah, G.J., Uitterlinden, A.G., Weir, D.R., Zhao, W., Starr, J.M., Johnson, A.D., Ikram, M.A., Bennett, D.A., Cummings, S.R., Deary, I.J., Harris, T.B., Kardia, S.L.R., Mosley, T.H., Srikanth, V.K., Windham, B.G., Newman, A.B., Walston, J.D., Davies, G., Evans, D.S., Slagboom, E.P., Ferrucci, L., Kiel, D.P., Murabito, J.M., and Atzmon, G.
Published: 2017

87. Benefit of Textured CIGS Cells for Low Reflecting Nanogrid Application

Author: Deelen, J. van and Barink, M.
Subjects: TS - Technical Sciences, Industrial Innovation, TFT - Thin Film Technology, Lightmanagement, Fundamental Studies, Nano Technology, New Materials and Concepts for Photovoltaic Devices, Grid, Materials, Metallization
Abstract: 33rd European Photovoltaic Solar Energy Conference and Exhibition; 23-26, Metallization of the front contact can increase the conductivity. We show the optical benefit by combining nanowire with a texture of the thin film stack. The parallel nanowires are placed in crevices of a texture in the optical model. Texturization reduces the reflection of both the stack and the nanowire. For a period of 500 nm, the reflection is virtually independent of the nanowire width for a texture height/period ratio of only 1. For a texture height of 1000 nm, the reflection is minimized with maximum of 3% (between 600 nm and 750 nm wavelength) and this would mean that the surface would appear as black, even with a surface metal coverage of 30%. Moreover, outside this wavelength range, the reflection is below 1% and marks a significant increase in current density up to 38 mA/cm2 compared to the flat layer stack (27 mA/cm2).
Published: 2017
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88. Innovation for optical, electrical and economic improvement of thin-film PV technology

Author: Deelen, J. van and Barink, M.
Subjects: Manufacturing, TS - Technical Sciences, Industrial Innovation, TFT - Thin Film Technology, Nano Technology, Thin film, PV celltech, Materials
Abstract: Innovation in the field of thin-film cells, in addition to economy of scale and the manufacturing learning curve, is an important element in keeping the price of this technology competitive. Most papers on these cells focus on their technology; however, the economic potential of the technology is also important. Of even greater significance, a realistic estimation of the potential, along with the associated costs, of advanced technology, is part of the equation for profitability. Two examples of technology – metallic grids and texturing – are given in this paper; the designs are discussed, and a brief economic analysis is presented for various scenarios of the technologies. Although the profitability of these technologies can be considerable, it is shown that one should be wary of basing decisions purely on potential and on ideal scenarios, and how the cost of a technology can turn a great prospect into a trade-off.
Published: 2017

89. Method and apparatus for depositing atomic layers on a substrate

Author: Vermeer, A.J.P.M., Roozeboom, F., and Deelen, J. van
Subjects: TS - Technical Sciences, Industrial Innovation, TFT - Thin Film Technology, Nano Technology, High Tech Systems & Materials, Materials
Abstract: Method of depositing an atomic layer on a substrate. the method comprises supplying a precursor gas fraom a precursor-gas supply of a deposition head that may be part of a rotatable drum. The precursor gas is provided from the presursor-gas supply towards the substrate. The method further comprises moving the precursor-gas supply by rotating the deposition head along the substrate which in its turn is moved along the rotating drum.
Published: 2017

90. Short telomere length is associated with impaired cognitive performance in European ancestry cohorts

Author: Hagg, S., Zhan, Y., Karlsson, R., Gerritsen, L., Ploner, A., van der Lee, S. J., Broer, L., Deelen, J., Marioni, R. E., Wong, A., Lundquist, Anders, Zhu, G., Hansell, N. K., Sillanpaa, E., Fedko, I. O., Amin, N. A., Beekman, M., de Craen, A. J. M., Degerman, Sofie, Harris, S. E., Kan, K-J, Martin-Ruiz, C. M., Montgomery, G. W., Adolfsson, Annelie N., Reynolds, C. A., Samani, N. J., Suchiman, H. E. D., Viljanen, A., von Zglinicki, T., Wright, M. J., Hottenga, J-J, Boomsma, D. I., Rantanen, T., Kaprio, J. A., Nyholt, D. R., Martin, N. G., Nyberg, Lars, Adolfsson, Rolf, Kuh, D., Starr, J. M., Deary, I. J., Slagboom, P. E., van Duijn, C. M., Codd, V., Pedersen, N. L., Hagg, S., Zhan, Y., Karlsson, R., Gerritsen, L., Ploner, A., van der Lee, S. J., Broer, L., Deelen, J., Marioni, R. E., Wong, A., Lundquist, Anders, Zhu, G., Hansell, N. K., Sillanpaa, E., Fedko, I. O., Amin, N. A., Beekman, M., de Craen, A. J. M., Degerman, Sofie, Harris, S. E., Kan, K-J, Martin-Ruiz, C. M., Montgomery, G. W., Adolfsson, Annelie N., Reynolds, C. A., Samani, N. J., Suchiman, H. E. D., Viljanen, A., von Zglinicki, T., Wright, M. J., Hottenga, J-J, Boomsma, D. I., Rantanen, T., Kaprio, J. A., Nyholt, D. R., Martin, N. G., Nyberg, Lars, Adolfsson, Rolf, Kuh, D., Starr, J. M., Deary, I. J., Slagboom, P. E., van Duijn, C. M., Codd, V., and Pedersen, N. L.
Abstract: The association between telomere length (TL) dynamics on cognitive performance over the life-course is not well understood. This study meta-analyses observational and causal associations between TL and six cognitive traits, with stratifications on APOE genotype, in a Mendelian Randomization (MR) framework. Twelve European cohorts (N = 17 052; mean age = 59.2 +/- 8.8 years) provided results for associations between qPCR-measuredTL (T/S-ratio scale) and general cognitive function, mini-mental state exam (MMSE), processing speed by digit symbol substitution test (DSST), visuospatial functioning, memory and executive functioning (STROOP). In addition, a genetic risk score (GRS) for TL including seven known genetic variants for TL was calculated, and used in associations with cognitive traits as outcomes in all cohorts. Observational analyses showed that longer telomeres were associated with better scores on DSST (beta = 0.051 per s. d.-increase of TL; 95% confidence interval (CI): 0.024, 0.077; P = 0.0002), and MMSE (beta = 0.025; 95% CI: 0.002, 0.047; P = 0.03), and faster STROOP (beta = -0.053; 95% CI: -0.087, -0.018; P = 0.003). Effects for DSST were stronger in APOE epsilon 4 non-carriers (beta = 0.081; 95% CI: 0.045, 0.117; P = 1.0 x 10(-5)), whereas carriers performed better in STROOP (beta = -0.074; 95% CI: -0.140, -0.009; P = 0.03). Causal associations were found for STROOP only (beta = -0.598 per s. d.-increase of TL; 95% CI: -1.125, -0.072; P = 0.026), with a larger effect in epsilon 4-carriers (beta = -0.699; 95% CI: -1.330, -0.069; P = 0.03). Two-sample replication analyses using CHARGE summary statistics showed causal effects between TL and general cognitive function and DSST, but not with STROOP. In conclusion, we suggest causal effects from longer TL on better cognitive performance, where APOE epsilon 4-carriers might be at differential risk.
Published: 2017
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91. Correction: The complex genetics of gait speed: Genome-wide metaanalysis approach [Aging, (Albany NY), 9, 1, (2017), (209-246)]doi 10.18632/aging.101151

Author: Ben-Avraham, D. (Dan), Karasik, D. (David), Verghese, J. (Joe), Lunetta, K.L. (Kathryn), Smith, J.A. (Jennifer A), Eicher, J.D. (John D.), Vered, R. (Rotem), Deelen, J. (Joris), Arnold, A.M. (Alice), Buchman, A.S. (Aron), Tanaka, T. (Toshiko), Faul, J.D. (Jessica D.), Nethander, M. (Maria), Fornage, M. (Myriam), Adams, H.H.H. (Hieab), Matteini, A.M. (Amy M.), Callisaya, M. (Michele), Smith, A.V. (Albert Vernon), Yu, L. (Lei), Jager, P.L. (Philip) de, Evans, D.A. (Denis), Gudnason, V. (Vilmundur), Hofman, A. (Albert), Pattie, A. (Alison), Corley, J. (Janie), Launer, L.J. (Lenore), Knopman, D.S. (Davis S.), Parimi, N. (Neeta), Turner, S.T. (Stephen T.), Bandinelli, S. (Stefania), Beekman, M. (Marian), Gutman, D. (Danielle), Sharvit, L. (Lital), Mooijaart, S.P. (Simon), Liewald, D.C.M. (David), Houwing-Duistermaat, J.J. (Jeanine), Ohlsson, C. (Claes), Moed, H. (Heleen), Verlinden, V.J.A. (Vincent), Mellström, D. (Dan), Geest, J.N. (Jos) van der, Karlsson, M. (Magnus), Hernandez, D.G. (Dena), McWhirter, R. (Rebekah), Liu, Y. (YongMei), Thomson, R. (Russell), Tranah, G.J. (Gregory), Uitterlinden, A.G. (André), Weir, D.R. (David R.), Zhao, W. (Wei), Starr, J.M. (John), Johnson, A.D. (Andrew), Ikram, M.A. (Arfan), Bennett, D.A. (David), Cummings, S., Deary, I.J. (Ian), Harris, T.B. (Tamara), Kardia, S.L.R. (Sharon L.R.), Mosley, T.H. (Thomas H.), Srikanth, V. (Velandai), Windham, B.G. (Gwen), Newman, A.B. (Anne B.), Walston, J. (Jeremy), Davies, G. (Gail), Evans, D.S. (Daniel), Slagboom, P.E. (Eline), Ferrucci, L. (Luigi), Kiel, D.P. (Douglas P.), Murabito, J. (Joanne), Atzmon, G. (Gil), Ben-Avraham, D. (Dan), Karasik, D. (David), Verghese, J. (Joe), Lunetta, K.L. (Kathryn), Smith, J.A. (Jennifer A), Eicher, J.D. (John D.), Vered, R. (Rotem), Deelen, J. (Joris), Arnold, A.M. (Alice), Buchman, A.S. (Aron), Tanaka, T. (Toshiko), Faul, J.D. (Jessica D.), Nethander, M. (Maria), Fornage, M. (Myriam), Adams, H.H.H. (Hieab), Matteini, A.M. (Amy M.), Callisaya, M. (Michele), Smith, A.V. (Albert Vernon), Yu, L. (Lei), Jager, P.L. (Philip) de, Evans, D.A. (Denis), Gudnason, V. (Vilmundur), Hofman, A. (Albert), Pattie, A. (Alison), Corley, J. (Janie), Launer, L.J. (Lenore), Knopman, D.S. (Davis S.), Parimi, N. (Neeta), Turner, S.T. (Stephen T.), Bandinelli, S. (Stefania), Beekman, M. (Marian), Gutman, D. (Danielle), Sharvit, L. (Lital), Mooijaart, S.P. (Simon), Liewald, D.C.M. (David), Houwing-Duistermaat, J.J. (Jeanine), Ohlsson, C. (Claes), Moed, H. (Heleen), Verlinden, V.J.A. (Vincent), Mellström, D. (Dan), Geest, J.N. (Jos) van der, Karlsson, M. (Magnus), Hernandez, D.G. (Dena), McWhirter, R. (Rebekah), Liu, Y. (YongMei), Thomson, R. (Russell), Tranah, G.J. (Gregory), Uitterlinden, A.G. (André), Weir, D.R. (David R.), Zhao, W. (Wei), Starr, J.M. (John), Johnson, A.D. (Andrew), Ikram, M.A. (Arfan), Bennett, D.A. (David), Cummings, S., Deary, I.J. (Ian), Harris, T.B. (Tamara), Kardia, S.L.R. (Sharon L.R.), Mosley, T.H. (Thomas H.), Srikanth, V. (Velandai), Windham, B.G. (Gwen), Newman, A.B. (Anne B.), Walston, J. (Jeremy), Davies, G. (Gail), Evans, D.S. (Daniel), Slagboom, P.E. (Eline), Ferrucci, L. (Luigi), Kiel, D.P. (Douglas P.), Murabito, J. (Joanne), and Atzmon, G. (Gil)
Abstract: Applying HaploReg v4.1 analysis to the 536 variants resulted in 9 categories (Supplementary Table 8): miscRNA (1 variant); snoRNA (2 variants); microRNA (4 variants); snRNA (9 variants); pseudogenes (14 variants); sequencing in progress (43 variants); LINC RNA (86 variants); and 372 variants within protein coding genes. In addition, some variants annotate to the same gene resulting in a total of 139 genes (protein-coding or non-coding). Of those genes, 6 are exceptionally long, containing over a million base-pairs, the longest of which is PTPRT coded by 1117219bp. The shortest genes are the ones coding for micro (MIR3143) or small nuclear (U7) RNAs at 63bp each. There is only partial information regarding the chromatin state of each variant. However, from the information gathered in the analysis we observed 14 transcription start sites and 245 enhancers (Supplementary Table 8).
Published: 2017
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92. Genome-wide association and functional studies identify a role for matrix Gla protein in osteoarthritis of the hand

Author: Hollander, W. (Wouter) den, Boer, C.G. (Cindy G.), Hart, D.J. (Deborah), Yau, M.S. (Michelle S.), Ramos, Y.F.M. (Yolande F.M.), Metrustry, S. (Sarah), Broer, L. (Linda), Deelen, J. (Joris), Cupples, L.A. (Adrienne), Rivadeneira, F. (Fernando), Kloppenburg, M. (Margreet), Peters, M.A.D. (Marjolein), Spector, T.D. (Timothy), Hofman, A. (Albert), Slagboom, P.E. (Eline), Nelissen, R.G.H.H. (Rob), Uitterlinden, A.G. (André), Felson, D., Valdes, A.M. (Ana Maria), Meulenbelt, I. (Ingrid), Van Meurs, J.J.B. (Joyce J. B.), Hollander, W. (Wouter) den, Boer, C.G. (Cindy G.), Hart, D.J. (Deborah), Yau, M.S. (Michelle S.), Ramos, Y.F.M. (Yolande F.M.), Metrustry, S. (Sarah), Broer, L. (Linda), Deelen, J. (Joris), Cupples, L.A. (Adrienne), Rivadeneira, F. (Fernando), Kloppenburg, M. (Margreet), Peters, M.A.D. (Marjolein), Spector, T.D. (Timothy), Hofman, A. (Albert), Slagboom, P.E. (Eline), Nelissen, R.G.H.H. (Rob), Uitterlinden, A.G. (André), Felson, D., Valdes, A.M. (Ana Maria), Meulenbelt, I. (Ingrid), and Van Meurs, J.J.B. (Joyce J. B.)
Abstract: Objective Osteoarthritis (OA) is the most common form of arthritis and the leading cause of disability in the elderly. Of all the joints, genetic predisposition is strongest for OA of the hand; however, only few genetic risk loci for hand OA have been identified. Our aim was to identify novel genes associated with hand OA and examine the underlying mechanism. Methods We performed a genome-wide association study of a quantitative measure of hand OA in 12 784 individuals (discovery: 8743, replication: 4011). Genome-wide significant signals were followed up by analysing gene and allele-specific expression in a RNA sequencing dataset (n=96) of human articular cartilage. Results We found two significantly associated loci in the discovery set: at chr12 (p=3.5 × 10 -10) near the matrix Gla protein (MGP) gene and at chr12 (p=6.1×10 -9) near the CCDC91 gene. The DNA variant near t
Published: 2017
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93. Correction: The complex genetics of gait speed: Genome-wide metaanalysis approach [Aging, (Albany NY), 9, 1, (2017), (209-246)]doi 10.18632/aging.101151

Author: Ben-Avraham, D, Karasik, D, Verghese, J, Lunetta, KL, Smith, JA, Eicher, JD, Vered, R, Deelen, J, Arnold, AM, Buchman, AS, Tanaka, T, Faul, JD, Nethander, M, Fornage, M, Adams, HH, Matteini, AM, Callisaya, ML, Smith, AV, Yu, L, De Jager, PL, Evans, DA, Gudnason, V, Hofman, A, Pattie, A, Corley, J, Launer, LJ, Knopman, DS, Parimi, N, Turner, ST, Bandinelli, S, Beekman, M, Gutman, D, Sharvit, L, Mooijaart, SP, Liewald, DC, Houwing-Duistermaat, JJ, Ohlsson, C, Moed, M, Verlinden, VJ, Mellström, D, van der Geest, JN, Karlsson, M, Hernandez, D, McWhirter, Rebekah, Liu, Y, Thomson, R, Tranah, GJ, Uitterlinden, AG, Weir, DR, Zhao, W, Starr, JM, Johnson, AD, Arfan Ikram, M, Bennett, DA, Cummings, SR, Deary, IJ, Harris, TB, Kardia, SLR, Mosley, TH, Srikanth, VK, Windham, BG, Newman, AB, Walston, JD, Davies, G, Evans, DS, Slagboom, EP, Ferrucci, L, Kiel, DP, Murabito, JM, Atzmon, G, Ben-Avraham, D, Karasik, D, Verghese, J, Lunetta, KL, Smith, JA, Eicher, JD, Vered, R, Deelen, J, Arnold, AM, Buchman, AS, Tanaka, T, Faul, JD, Nethander, M, Fornage, M, Adams, HH, Matteini, AM, Callisaya, ML, Smith, AV, Yu, L, De Jager, PL, Evans, DA, Gudnason, V, Hofman, A, Pattie, A, Corley, J, Launer, LJ, Knopman, DS, Parimi, N, Turner, ST, Bandinelli, S, Beekman, M, Gutman, D, Sharvit, L, Mooijaart, SP, Liewald, DC, Houwing-Duistermaat, JJ, Ohlsson, C, Moed, M, Verlinden, VJ, Mellström, D, van der Geest, JN, Karlsson, M, Hernandez, D, McWhirter, Rebekah, Liu, Y, Thomson, R, Tranah, GJ, Uitterlinden, AG, Weir, DR, Zhao, W, Starr, JM, Johnson, AD, Arfan Ikram, M, Bennett, DA, Cummings, SR, Deary, IJ, Harris, TB, Kardia, SLR, Mosley, TH, Srikanth, VK, Windham, BG, Newman, AB, Walston, JD, Davies, G, Evans, DS, Slagboom, EP, Ferrucci, L, Kiel, DP, Murabito, JM, and Atzmon, G
Published: 2017

94. The complex genetics of gait speed: Genome-wide meta-analysis approach

Author: Ben-Avraham, D, Karasik, D, Verghese, J, Lunetta, KL, Smith, JA, Eicher, JD, Vered, R, Deelen, J, Arnold, AM, Buchman, AS, Tanaka, T, Faul, JD, Nethander, M, Fornage, M, Adams, HH, Matteini, AM, Callisaya, ML, Smith, AV, Yu, L, De Jager, PL, Evans, DA, Gudnason, V, Hofman, A, Pattie, A, Corley, J, Launer, LJ, Knopman, DS, Parimi, N, Turner, ST, Bandinelli, S, Beekman, M, Gutman, D, Sharvit, L, Mooijaart, SP, Liewald, DC, Houwing-Duistermaat, JJ, Ohlsson, C, Moed, M, Verlinden, VJ, Mellström, D, van der Geest, JN, Karlsson, M, Hernandez, D, McWhirter, Rebekah, Liu, Y, Thomson, R, Tranah, GJ, Uitterlinden, AG, Weir, DR, Zhao, W, Starr, JM, Johnson, AD, Arfan Ikram, M, Bennett, DA, Cummings, SR, Deary, IJ, Harris, TB, Sharon, SL, Mosley, TH, Srikanth, VK, Windham, BG, Newman, AB, Walston, JD, Davies, G, Evans, DS, Slagboom, EP, Ferrucci, L, Kiel, DP, Murabito, JM, Atzmon, G, Ben-Avraham, D, Karasik, D, Verghese, J, Lunetta, KL, Smith, JA, Eicher, JD, Vered, R, Deelen, J, Arnold, AM, Buchman, AS, Tanaka, T, Faul, JD, Nethander, M, Fornage, M, Adams, HH, Matteini, AM, Callisaya, ML, Smith, AV, Yu, L, De Jager, PL, Evans, DA, Gudnason, V, Hofman, A, Pattie, A, Corley, J, Launer, LJ, Knopman, DS, Parimi, N, Turner, ST, Bandinelli, S, Beekman, M, Gutman, D, Sharvit, L, Mooijaart, SP, Liewald, DC, Houwing-Duistermaat, JJ, Ohlsson, C, Moed, M, Verlinden, VJ, Mellström, D, van der Geest, JN, Karlsson, M, Hernandez, D, McWhirter, Rebekah, Liu, Y, Thomson, R, Tranah, GJ, Uitterlinden, AG, Weir, DR, Zhao, W, Starr, JM, Johnson, AD, Arfan Ikram, M, Bennett, DA, Cummings, SR, Deary, IJ, Harris, TB, Sharon, SL, Mosley, TH, Srikanth, VK, Windham, BG, Newman, AB, Walston, JD, Davies, G, Evans, DS, Slagboom, EP, Ferrucci, L, Kiel, DP, Murabito, JM, and Atzmon, G
Published: 2017

95. Short telomere length is associated with impaired cognitive performance in European ancestry cohorts

Author: Hagg, S, Zhan, Y, Karlsson, R, Gerritsen, L, Ploner, A, van der Lee, Sven, Broer, Linda, Deelen, J, Marioni, RE, Wong, A, Lundquist, A, Zhu, G, Hansell, NK, Sillanpaa, E, Fedko, IO, Amin, Najaf, Beekman, M, de Craen, AJM, Degerman, S, Harris, SE, Kan, KJ, Martin-Ruiz, CM, Montgomery, GW, Adolfsson, AN, Reynolds, CA, Samani, NJ, Suchiman, HED, Viljanen, A, von Zglinicki, T, Wright, MJ, Hottenga, JJ, Boomsma, DI, Rantanen, T, Kaprio, JA, Nyholt, DR, Martin, NG, Nyberg, L, Adolfsson, R, Kuh, D, Starr, JM, Deary, IJ, Slagboom, PE (Eline), Duijn, Cornelia, Codd, V, Pedersen, NL, Hagg, S, Zhan, Y, Karlsson, R, Gerritsen, L, Ploner, A, van der Lee, Sven, Broer, Linda, Deelen, J, Marioni, RE, Wong, A, Lundquist, A, Zhu, G, Hansell, NK, Sillanpaa, E, Fedko, IO, Amin, Najaf, Beekman, M, de Craen, AJM, Degerman, S, Harris, SE, Kan, KJ, Martin-Ruiz, CM, Montgomery, GW, Adolfsson, AN, Reynolds, CA, Samani, NJ, Suchiman, HED, Viljanen, A, von Zglinicki, T, Wright, MJ, Hottenga, JJ, Boomsma, DI, Rantanen, T, Kaprio, JA, Nyholt, DR, Martin, NG, Nyberg, L, Adolfsson, R, Kuh, D, Starr, JM, Deary, IJ, Slagboom, PE (Eline), Duijn, Cornelia, Codd, V, and Pedersen, NL
Published: 2017

96. Blood lipids influence DNA methylation in circulating cells

Author: Dekkers, K.F., Iterson, M. van, Slieker, R.C., Moed, M.H., Bonder, M.J., Galen, M. van, Mei, H.L., Zhernakova, D.V., Berg, L.H. van den, Deelen, J., Dongen, J. van, Heemst, D. van, Hofman, A., Hottenga, J.J., Kallen, C.J.H. van der, Schalkwijk, C.G., Stehouwer, C.D.A., Tigchelaar, E.F., Uitterlinden, A.G., Willemsen, G., Zhernakova, A., Franke, L., Hoen, P.A.C. 't, Jansen, R., Meurs, J. van, Boomsma, D.I., Duijn, C.M. van, Greevenbroek, M.M.J. van, Veldink, J.H., Wijmenga, C., Zwet, E.W. van, Slagboom, P.E., Jukema, J.W., Heijmans, B.T., BIOS Consortium, Amsterdam Neuroscience - Complex Trait Genetics, Biological Psychology, RS: CARIM - R3.01 - Vascular complications of diabetes and the metabolic syndrome, Interne Geneeskunde, MUMC+: HVC Pieken Maastricht Studie (9), MUMC+: MA Interne Geneeskunde (3), Epidemiology, Internal Medicine, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Stem Cell Aging Leukemia and Lymphoma (SALL), Epidemiology and Data Science, Laboratory Medicine, and Psychiatry
Subjects: 0301 basic medicine, Netherlands Twin Register (NTR), Blood lipids, 030204 cardiovascular system & hematology, Biology, Bioinformatics, Epigenesis, Genetic, NORMALIZATION, lipids, Random Allocation, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, MICROARRAY, Mendelian randomization, Journal Article, Humans, EPIDEMIOLOGY, Epigenetics, CPT1A LOCUS, POPULATION, EPIGENOME-WIDE ASSOCIATION, Molecular Epidemiology, DNA methylation, PLASMA, Cholesterol, Research, CHOLESTEROL, Mendelian Randomization Analysis, Lipid metabolism, 3. Good health, Phenotype, 030104 developmental biology, chemistry, ATHEROSCLEROSIS, lipids (amino acids, peptides, and proteins), Gene expression, Lipoprotein
Abstract: Background Cells can be primed by external stimuli to obtain a long-term epigenetic memory. We hypothesize that long-term exposure to elevated blood lipids can prime circulating immune cells through changes in DNA methylation, a process that may contribute to the development of atherosclerosis. To interrogate the causal relationship between triglyceride, low-density lipoprotein (LDL) cholesterol, and high-density lipoprotein (HDL) cholesterol levels and genome-wide DNA methylation while excluding confounding and pleiotropy, we perform a stepwise Mendelian randomization analysis in whole blood of 3296 individuals. Results This analysis shows that differential methylation is the consequence of inter-individual variation in blood lipid levels and not vice versa. Specifically, we observe an effect of triglycerides on DNA methylation at three CpGs, of LDL cholesterol at one CpG, and of HDL cholesterol at two CpGs using multivariable Mendelian randomization. Using RNA-seq data available for a large subset of individuals (N = 2044), DNA methylation of these six CpGs is associated with the expression of CPT1A and SREBF1 (for triglycerides), DHCR24 (for LDL cholesterol) and ABCG1 (for HDL cholesterol), which are all key regulators of lipid metabolism. Conclusions Our analysis suggests a role for epigenetic priming in end-product feedback control of lipid metabolism and highlights Mendelian randomization as an effective tool to infer causal relationships in integrative genomics data. Electronic supplementary material The online version of this article (doi:10.1186/s13059-016-1000-6) contains supplementary material, which is available to authorized users.
Published: 2016

97. Identification of additional risk loci for stroke and small vessel disease: a meta-analysis of genome-wide association studies

Author: Deelen, J., Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, Stroke Genetics Network, and International Stroke Genetics Consortium (ISGC)
Published: 2016

98. The effect of standardized food intake on the association between BMI and 1H-NMR metabolites

Author: Schutte, A.M., Slagboom, P., Beekman, M., Akker, E.B. van den, Deelen, J., and Heemst, E.W. van
Abstract: Multiple studies have shown that levels of 1H-NMR metabolites are associated with disease and risk factors of disease such as BMI. While most previous investigations have been performed in fasting samples, meta-analysis often includes both cohorts with fasting and non-fasting blood samples. In the present study comprising 153 participants (mean age 63 years; mean BMI 27 kg/m2) we analyzed the effect of a standardized liquid meal (SLM) on metabolite levels and how the SLM influenced the association between metabolites and BMI. We observed that many metabolites, including glycolysis related metabolites, multiple amino acids, LDL diameter, VLDL and HDL lipid concentration changed within 35 minutes after a standardized liquid meal (SLM), similarly for all individuals. Remarkable, however, is that the correlations of metabolite levels with BMI remained highly similar before and after the SLM. Hence, as exemplified with the disease risk factor BMI, our results suggest that the applicability of 1H-NMR metabolites as disease biomarkers depends on the standardization of the fasting status rather than on the fasting status itself. Future studies are required to investigate the dependency of metabolite biomarkers for other disease risk factors on the fasting status.
Published: 2016

99. Light Management in Thin Film Solar Cells

Author: Soppe, W., Zhang, D., Van Der Werf, K., Van Swaaij, R., Creatore, M., Williams, B., Vroon, Z., Van Deelen, J., Crombach, B., and Van Erven, R.
Subjects: CdTe, CIS and Related Thin Film Solar Cells and Modules, Thin Film Solar Cells and Modules
Abstract: 32nd European Photovoltaic Solar Energy Conference and Exhibition; 1216-1218, Application of structured back reflectors, made by Nano-Imprint Lithography is shown to result in excellent light trapping in a-Si and nc-Si cells on steel foil. Applying these concepts we managed to achieve back reflectors with a Haze factor of more than 95% for the entire visible wavelength regime. On these back reflectors, nc- Si and a-Si cells were fabricated and Jscs of more than 24 mA/cm2 for nc-Si cells with an absorber layer thickness of 1000 nm were obtained. We applied the anti-reflection texture on the front glass of a hybrid tandem (in which a c-Si bottom cell was combined with a semi-transparent a-Si top cell) and reached an improvement of the Jsc of the bottom cell of 1.7 mA/cm2. The lacquer that has been developed for textured back reflectors in CIGS solar cells has been applied to make periodic and random textures. First experiments to implement these back reflectors in thin CIGS solar cells were carried out indicating that the growth of CIGS on textured substrates is non-conformal on textures with high aspect ratios. Further modeling, in which this non-conformity is taken into account, is required to determine the optimum textures for CIGS
Published: 2016
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100. Fast Processing of Sol-Gel TCO

Author: Deelen, J. van, Rem, M., Arfsten, N., and Buskens, P.P.
Subjects: Sol-gel, TS - Technical Sciences, Industrial Innovation, TCO, New Materials and Concepts for Solar Cells and Modules, Transparent conductors, TFT - Thin Film Technology, Materials Energy, Fundamental Studies, Nano Technology
Abstract: 32nd European Photovoltaic Solar Energy Conference and Exhibition; 155-157, TCOs are usually deposited using sputtering or chemical vapor deposition, which have a yield of typically 50-75%. The sol gel method does not need low pressure and can be done with a high precursor yield in the range of 90 – 100%. Sol gel enables also the TCO function as a planarization or texturisation layer. Major drawback and cost driver is the annealing step. The annealing process parameter requirements are highly related to the ingredients and their preparation. These factors can be tuned to get both a layer of high quality and a fast and cost effective process. We present here an annealing study with in-situ conductivity measurement to monitor the effect of temperature ramping, process time, process gas, etc. For ITO, we obtained a sheet resistance of 20 Ohm/sq for layers below 100 nm in thickness as a best result. Furthermore, the annealing process can be tuned to be within a couple of minutes.
Published: 2016

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