419 results on '"Cucca, F"'
Search Results
2. Differential activation of accumbens shell and core dopamine by sucrose reinforcement with nose poking and with lever pressing
- Author
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Bassareo, V., Cucca, F., Frau, R., and Di Chiara, G.
- Published
- 2015
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3. Nucleus accumbens shell and core dopamine responsiveness to sucrose in rats: role of response contingency and discriminative/conditioned cues
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Bassareo, V., Cucca, F., Musio, P., Lecca, D., Frau, R., and Di Chiara, G.
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- 2015
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4. Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci
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Erzurumluoglu, AM, Liu, M, Jackson, VE, Barnes, DR, Datta, G, Melbourne, CA, Young, R, Batini, C, Surendran, P, Jiang, T, Adnan, SD, Afaq, S, Agrawal, A, Altmaier, E, Antoniou, AC, Asselbergs, FW, Baumbach, C, Beirut, L, Bertelsen, S, Boehnke, M, Bots, ML, Brazel, DM, Chambers, JC, Chang-Claude, J, Chen, C, Corley, J, Chou, Y-L, David, SP, de Boer, RA, de Leeuw, CA, Dennis, JG, Dominiczak, AF, Dunning, AM, Easton, DF, Eaton, C, Elliott, P, Evangelou, E, Faul, JD, Foroud, T, Goate, A, Gong, J, Grabe, HJ, Haessler, J, Haiman, C, Hallmans, G, Hammerschlag, AR, Harris, SE, Hattersley, A, Heath, A, Hsu, C, Iacono, WG, Kanoni, S, Kapoor, M, Kaprio, J, Kardia, SL, Karpe, F, Kontto, J, Kooner, JS, Kooperberg, C, Kuulasmaa, K, Laakso, M, Lai, D, Langenberg, C, Le, N, Lettre, G, Loukola, A, Luan, J, Madden, PAF, Mangino, M, Marioni, RE, Marouli, E, Marten, J, Martin, NG, McGue, M, Michailidou, K, Mihailov, E, Moayyeri, A, Moitry, M, Müller-Nurasyid, M, Naheed, A, Nauck, M, Neville, MJ, Nielsen, SF, North, K, Perola, M, Pharoah, PDP, Pistis, G, Polderman, TJ, Posthuma, D, Poulter, N, Qaiser, B, Rasheed, A, Reiner, A, Renström, F, Rice, J, Rohde, R, Rolandsson, O, Samani, NJ, Samuel, M, Schlessinger, D, Scholte, SH, Scott, RA, Sever, P, Shao, Y, Shrine, N, Smith, JA, Starr, JM, Stirrups, K, Stram, D, Stringham, HM, Tachmazidou, I, Tardif, J-C, Thompson, DJ, Tindle, HA, Tragante, V, Trompet, S, Turcot, V, Tyrrell, J, Vaartjes, I, van der Leij, AR, van der Meer, P, Varga, TV, Verweij, N, Völzke, H, Wareham, NJ, Warren, HR, Weir, DR, Weiss, S, Wetherill, L, Yaghootkar, H, Yavas, E, Jiang, Y, Chen, F, Zhan, X, Zhang, W, Zhao, W, Zhou, K, Amouyel, P, Blankenberg, S, Caulfield, MJ, Chowdhury, R, Cucca, F, Deary, IJ, Deloukas, P, Di Angelantonio, E, Ferrario, M, Ferrières, J, Franks, PW, Frayling, TM, Frossard, P, Hall, IP, Hayward, C, Jansson, J-H, Jukema, JW, Kee, F, Männistö, S, Metspalu, A, Munroe, PB, Nordestgaard, BG, Palmer, CNA, Salomaa, V, Sattar, N, Spector, T, Strachan, DP, Understanding Society Scientific Group, EPIC-CVD, GSCAN, Consortium for Genetics of Smoking Behaviour, CHD Exome+ Consortium, van der Harst, P, Zeggini, E, Saleheen, D, Butterworth, AS, Wain, LV, Abecasis, GR, Danesh, J, Tobin, MD, Vrieze, S, Liu, DJ, and Howson, JMM
- Abstract
Smoking is a major heritable and modifiable risk factor for many diseases, including cancer, common respiratory disorders and cardiovascular diseases. Fourteen genetic loci have previously been associated with smoking behaviour-related traits. We tested up to 235,116 single nucleotide variants (SNVs) on the exome-array for association with smoking initiation, cigarettes per day, pack-years, and smoking cessation in a fixed effects meta-analysis of up to 61 studies (up to 346,813 participants). In a subset of 112,811 participants, a further one million SNVs were also genotyped and tested for association with the four smoking behaviour traits. SNV-trait associations with P
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- 2020
5. Genetic testing improves the diagnosis of adult type hypolactasia in the Mediterranean population of Sardinia
- Author
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Schirru, E, Corona, V, Usai-Satta, P, Scarpa, M, Oppia, F, Loriga, F, Cucca, F, De Virgiliis, S, Rossino, R, Doloretta Macis, M, Jores, R-D, and Congia, M
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- 2007
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6. Genotype effects and epistasis in type 1 diabetes and HLA-DQ trans dimer associations with disease
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Koeleman, B P C, Lie, B A, Undlien, D E, Dudbridge, F, Thorsby, E, de Vries, R R P, Cucca, F, Roep, B O, Giphart, M J, and Todd, J A
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- 2004
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7. Testing the possible negative association of type 1 diabetes and atopic disease by analysis of the interleukin 4 receptor gene
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Maier, L M, Twells, R C J, Howson, J M M, Lam, A C, Clayton, D G, Smyth, D J, Savage, D, Carson, D, Patterson, C C, Smink, L J, Walker, N M, Burren, O S, Nutland, S, Rance, H, Tuomilehto-Wolf, E, Tuomilehto, J, Guja, C, Ionescu-Tirgoviste, C, Undlien, D E, Rønningen, K S, Cucca, F, and Todd, J A
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- 2003
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8. A Trans-Specific Polymorphism in ZC3HAV1 Is Maintained by Long-Standing Balancing Selection and May Confer Susceptibility to Multiple Sclerosis
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Cagliani, R., Guerini, F. R., Fumagalli, M., Riva, S., Agliardi, C., Galimberti, D., Pozzoli, U., Goris, A., Dubois, B., Fenoglio, C., Forni, D., Sanna, S., Zara, I., Pitzalis, M., Zoledziewska, M., Cucca, F., Marini, F., Comi, G. P., Scarpini, E., Bresolin, N., Clerici, M., and Sironi, M.
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- 2012
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9. Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia
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Zoledziewska, M, Costa, G, Pitzalis, M, Cocco, E, Melis, C, Moi, L, Zavattari, P, Murru, R, Lampis, R, Morelli, L, Poddie, F, Frongia, P, Pusceddu, P, Bajorek, M, Marras, A, Satta, A M, Chessa, A, Pugliatti, M, Sotgiu, S, Whalen, M B, Rosati, G, Cucca, F, and Marrosu, M G
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- 2009
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10. Erratum to: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (Nature Genetics, (2018), 50, 10, (1412-1425), 10.1038/s41588-018-0205-x)
- Author
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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 S., 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 M., 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., Morris A. D., 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 G., 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. M., 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. P., 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 B. W. J. H., 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 C., 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., Scott R. J., 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., 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, S., 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, M., 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., Morris, A. D., 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, G., 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. M., 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. P., 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, B. W. J. H., 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, C., 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., Scott, R. J., 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., and Caulfield, M. J.
- Subjects
Blood pressure ,genetic analysis - 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
11. P10.1 Arterial Stiffness and the “Phenotype” Metabolic Syndrome: A Cross-Country Study. The Mare Consortium
- Author
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Scuteri, A., Cunha, P., Cockroft, J., Cucca, F., Laurent, S., Raso, F., Muiesan, M., Rietzschel, E., Ryliskyte, L., Vlachopoulos, C., Nilsson, P., and Lakatta, E.
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- 2014
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12. Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use
- Author
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Liu, M, Jiang, Y, Wedow, R, Li, Y, Brazel, DM, Chen, F, Datta, G, Davila-Velderrain, J, McGuire, D, Tian, C, Zhan, X, Team, 23Andme Research, Psychiatry, Hunt All-In, Choquet, H, Docherty, AR, Faul, JD, Foerster, JR, Fritsche, LG, Gabrielsen, ME, Gordon, SD, Haessler, J, Hottenga, J-J, Huang, H, Jang, S-K, Jansen, PR, Ling, Y, Mägi, R, Matoba, N, McMahon, G, Mulas, A, Orrù, V, Palviainen, T, Pandit, A, Reginsson, GW, Skogholt, AH, Smith, JA, Taylor, AE, Turman, C, Willemsen, G, Young, H, Young, KA, Zajac, GJM, Zhao, W, Zhou, W, Bjornsdottir, G, Boardman, JD, Boehnke, M, Boomsma, DI, Chen, C, Cucca, F, Davies, GE, Eaton, CB, Ehringer, MA, Esko, T, Fiorillo, E, Gillespie, NA, Gudbjartsson, DF, Haller, T, Harris, KM, Heath, AC, Hewitt, JK, Hickie, IB, Hokanson, JE, Hopfer, CJ, Hunter, DJ, Iacono, WG, Johnson, EO, Kamatani, Y, Kardia, SLR, Keller, MC, Kellis, M, Kooperberg, C, Kraft, P, Krauter, KS, Laakso, M, Lind, PA, Loukola, A, Lutz, SM, Madden, PAF, Martin, NG, McGue, M, McQueen, MB, Medland, SE, Metspalu, A, Mohlke, KL, Nielsen, JB, Okada, Y, Peters, U, Polderman, TJC, Posthuma, D, Reiner, AP, Rice, JP, Rimm, E, Rose, RJ, Runarsdottir, V, Stallings, MC, Stančáková, A, Stefansson, H, Thai, KK, Tindle, HA, Tyrfingsson, T, Wall, TL, Weir, DR, Weisner, C, Whitfield, JB, Winsvold, BS, Yin, J, Zuccolo, L, Bierut, LJ, Hveem, K, Lee, JJ, Munafò, MR, Saccone, NL, Willer, CJ, Cornelis, MC, David, SP, Hinds, DA, Jorgenson, E, Kaprio, J, Stitzel, JA, Stefansson, K, Thorgeirsson, TE, Abecasis, G, Liu, DJ, Vrieze, S, Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, APH - Mental Health, APH - Methodology, Human genetics, Amsterdam Reproduction & Development (AR&D), APH - Aging & Later Life, and Human Genetics
- Subjects
Male ,Netherlands Twin Register (NTR) ,Smoking/genetics ,ved/biology.organism_classification_rank.species ,Alcohol ,Genome-wide association study ,Brain and Behaviour ,chemistry.chemical_compound ,0302 clinical medicine ,Tobacco Use Disorder/genetics ,Tobacco/adverse effects ,Genetics ,0303 health sciences ,Smoking ,Tobacco and Alcohol ,public health ,Tobacco Use Disorder ,Middle Aged ,3. Good health ,Phenotype ,psychiatric disorders ,Genetic Variation/genetics ,Meta-analysis ,Genome-Wide Association Study/methods ,Female ,Physical and Mental Health ,Risk ,Alcohol Drinking ,psychology ,Biology ,Article ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Tobacco ,Humans ,Model organism ,Gene ,030304 developmental biology ,Genetic association ,ved/biology ,Genetic Variation ,Alcohol Drinking/genetics ,Heritability ,chemistry ,genome-wide association studies ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders1. They are heritable2,3 and etiologically related4,5 behaviors that have been resistant to gene discovery efforts6,7,8,9,10,11. In sample sizes up to 1.2 million individuals, we discovered 566 genetic variants in 406 loci associated with multiple stages of tobacco use (initiation, cessation, and heaviness) as well as alcohol use, with 150 loci evidencing pleiotropic association. Smoking phenotypes were positively genetically correlated with many health conditions, whereas alcohol use was negatively correlated with these conditions, such that increased genetic risk for alcohol use is associated with lower disease risk. We report evidence for the involvement of many systems in tobacco and alcohol use, including genes involved in nicotinic, dopaminergic, and glutamatergic neurotransmission. The results provide a solid starting point to evaluate the effects of these loci in model organisms and more precise substance use measures. © 2019. This is the authors’ accepted and refereed manuscript to the article.
- Published
- 2019
13. Relative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes: a meta-analysis
- Author
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Thomson, G., Valdes, A. M., Noble, J. A., Kockum, I., Grote, M. N., Najman, J., Erlich, H. A., Cucca, F., Pugliese, A., Steenkiste, A., Dorman, J. S., Caillat-Zucman, S., Hermann, R., Ilonen, J., Lambert, A. P., Bingley, P. J., Gillespie, K. M., Lernmark, Å., Sanjeevi, C. B., Rønningen, K. S., Undlien, D. E., Thorsby, E., Petrone, A., Buzzetti, R., Koeleman, B. P.C., Roep, B. O., Saruhan-Direskeneli, G., Uyar, F. A., Günoz, H., Gorodezky, C., Alaez, C., Boehm, B. O., Mlynarski, W., Ikegami, H., Berrino, M., Fasano, M. E., Dametto, E., Israel, S., Brautbar, C., Santiago-Cortes, A., de Llado, T. Frazer, She, J.-X., Bugawan, T. L., Rotter, J. I., Raffel, L., Zeidler, A., Leyva-Cobian, F., Hawkins, B. R., Chan, S. H., Castano, L., Pociot, F., and Nerup, J.
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- 2007
14. Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (vol 50, pg 1412, 2018)
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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
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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.
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- 2018
15. The distribution of DQ genes in the Saharawi population provides only a partial explanation for the high celiac disease prevalence
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Catassi, C, Doloretta Macis, M, Rätsch, I.-M, De Virgiliis, S, and Cucca, F
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- 2001
16. Mesolimbic Dopamine Encodes Prediction Errors in a State-Dependent Manner
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Papageorgiou, G, Baudonnat, M, Cucca, F, and Walton, M
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Rats, Sprague-Dawley ,Behavior, Animal ,Reward ,lcsh:Biology (General) ,Report ,Dopamine ,Task Performance and Analysis ,Sensation ,Animals ,Cues ,Satiety Response ,lcsh:QH301-705.5 ,Nucleus Accumbens - Abstract
Summary Mesolimbic dopamine encodes the benefits of a course of action. However, the value of an appetitive reward depends strongly on an animal’s current state. To investigate the relationship between dopamine, value, and physiological state, we monitored sub-second dopamine release in the nucleus accumbens core while rats made choices between food and sucrose solution following selective satiation on one of these reinforcers. Dopamine signals reflected preference for the reinforcers in the new state, decreasing to the devalued reward and, after satiation on food, increasing for the valued sucrose solution. These changes were rapid and selective, with dopamine release returning to pre-satiation patterns when the animals were re-tested in a standard food-restricted state. Such rapid and selective adaptation of dopamine-associated value signals could provide an important signal to promote efficient foraging for a varied diet., Graphical Abstract, Highlights • Dopamine reward prediction errors are shaped by physiological state • Both choices and dopamine signals rapidly update after selective satiation • In a new state, dopamine signals mainly only update with experience • When returning to a familiar state, dopamine immediately signals stored values, Dopamine signals information about reward value used for learning and decision making. Papageorgiou et al. show that mesolimbic dopamine coding of reward prediction errors rapidly updates to reflect current state-dependent values.
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- 2016
17. The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations
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Lampis, R., Morelli, L., De Virgiliis, S., Congia, M., and Cucca, F.
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- 2000
18. Genome‐wide search for genes affecting the age at diagnosis of type 1 diabetes.
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Syreeni, A., Sandholm, N., Sidore, C., Cucca, F., Haukka, J., Harjutsalo, V., and Groop, P.‐H.
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TYPE 1 diabetes ,GENES ,DIAGNOSIS ,ASTHMA in children ,GERMPLASM - Abstract
Background: Type 1 diabetes (T1D) is an autoimmune disease affecting individuals in the early years of life. Although previous studies have identified genetic loci influencing T1D diagnosis age, these studies did not investigate the genome with high resolution. Objective and methods: We performed a genome‐wide meta‐analysis for age at diagnosis with cohorts from Finland (Finnish Diabetic Nephropathy Study), the United Kingdom (UK Genetic Resource Investigating Diabetes) and Sardinia. Through SNP associations, transcriptome‐wide association analysis linked T1D diagnosis age and gene expression. Results: We identified two chromosomal regions associated with T1D diagnosis age: multiple independent variants in the HLA region on chromosome 6 and a locus on chromosome 17q12. We performed gene‐level association tests with transcriptome prediction models from two whole blood datasets, lymphocyte cell line, spleen, pancreas and small intestine tissues. Of the non‐HLA genes, lower PNMT expression in whole blood, and higher IKZF3 and ZPBP2, and lower ORMDL3 and GSDMB transcription levels in multiple tissues were associated with lower T1D diagnosis age (FDR = 0.05). These genes lie on chr17q12 which is associated with T1D, other autoimmune diseases, and childhood asthma. Additionally, higher expression of PHF20L1, a gene not previously implicated in T1D, was associated with lower diagnosis age in lymphocytes, pancreas, and spleen. Altogether, the non‐HLA associations were enriched in open chromatin in various blood cells, blood vessel tissues and foetal thymus tissue. Conclusion: Multiple genes on chr17q12 and PHF20L1 on chr8 were associated with T1D diagnosis age and only further studies may elucidate the role of these genes for immunity and T1D onset. [ABSTRACT FROM AUTHOR]
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- 2021
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19. Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits
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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)
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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.
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- 2018
20. Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe
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Raveane, A., primary, Aneli, S., additional, Montinaro, F., additional, Athanasiadis, G., additional, Barlera, S., additional, Birolo, G., additional, Boncoraglio, G., additional, Di Blasio, A. M., additional, Di Gaetano, C., additional, Pagani, L., additional, Parolo, S., additional, Paschou, P., additional, Piazza, A., additional, Stamatoyannopoulos, G., additional, Angius, A., additional, Brucato, N., additional, Cucca, F., additional, Hellenthal, G., additional, Mulas, A., additional, Peyret-Guzzon, M., additional, Zoledziewska, M., additional, Baali, A., additional, Bycroft, C., additional, Cherkaoui, M., additional, Chiaroni, J., additional, Di Cristofaro, J., additional, Dina, C., additional, Dugoujon, J. M., additional, Galan, P., additional, Giemza, J., additional, Kivisild, T., additional, Mazieres, S., additional, Melhaoui, M., additional, Metspalu, M., additional, Myers, S., additional, Pereira, L., additional, Ricaut, F. X., additional, Brisighelli, F., additional, Cardinali, I., additional, Grugni, V., additional, Lancioni, H., additional, Pascali, V. L., additional, Torroni, A., additional, Semino, O., additional, Matullo, G., additional, Achilli, A., additional, Olivieri, A., additional, and Capelli, C., additional
- Published
- 2019
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21. Evaluation of IgA deficiency in Sardinians indicates a susceptibility gene is encoded within the HLA class III region
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CUCCA, F., ZHU, Z.-B., KHANNA, A., COSSU, F., CONGIA, M., BADIALI, M., LAMPIS, R., FRAU, F., DE VIRGILIIS, S., CAO, A., ARNONE, M., PIRAS, P., CAMPBELL, R. D., COOPER, M. D., VOLANAKIS, J. E., and POWIS, S. H.
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- 1998
22. Arterial stiffness and influences of the metabolic syndrome: A cross-countries study
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Scuteri, A., Cunha, P. G., AGABITI ROSEI, Enrico, Badariere, J., Bekaert, S., Cockcroft, J. R., Cotter, J., Cucca, F., M. L., De, Meyer, T. D., Ferrucci, L., Franco, O., Gale, N., Gillebert, T. C., Langlois, M., Laucevicius, A., Laurent, S., F. U. S., Morrell, C. H., Muiesan, Maria Lorenza, Munnery, M. M., Navickas, R., Oliveira, P., Orru', M., Pilia, M. G., Rietzschel, E. R., Ryliskyte, L., Salvetti, Massimo, Schlessinger, D., Sousa, N., Stefanadis, C., Strait, J., Daele, C. V., Villa, I., Vlachopoulos, C., Witteman, J., Xaplanteris, P., Nilsson, P., Lakatta, E. G., Hofman, A., M. A. R., Universidade do Minho, Epidemiology, and Internal Medicine
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Male ,Comorbidity ,030204 cardiovascular system & hematology ,0302 clinical medicine ,Medicine ,030212 general & internal medicine ,Pulse wave velocity ,Abdominal obesity ,Metabolic Syndrome ,education.field_of_study ,arterial stiffness, metabolic syndrome, aortic stiffness ,Anthropometry ,Smoking ,Middle Aged ,Arterial stiffness ,Metabolic syndrome ,3. Good health ,Europe ,Hypertension ,Cohort ,Female ,medicine.symptom ,Cardiology and Cardiovascular Medicine ,medicine.medical_specialty ,aortic stiffness ,Population ,Pulse Wave Analysis ,Article ,03 medical and health sciences ,Sex Factors ,Vascular Stiffness ,SDG 3 - Good Health and Well-being ,Internal medicine ,Diabetes mellitus ,Diabetes Mellitus ,Humans ,Cross-cultural comparison ,Risk factor ,education ,Aged ,Dyslipidemias ,Science & Technology ,business.industry ,medicine.disease ,United States ,Cross-Sectional Studies ,Endocrinology ,business - Abstract
Specific clusters of metabolic syndrome (MetS) components impact differentially on arterial stiffness, indexed as pulse wave velocity (PWV). Of note, in several population-based studies participating in the MARE (Metabolic syndrome and Arteries REsearch) Consortium the occurrence of specific clusters of MetS differed markedly across Europe and the US. The aim of the present study was to investigate whether specific clusters of MetS are consistently associated with stiffer arteries in different populations. We studied 20,570 subjects from 9 cohorts representing 8 different European countries and the US participating in the MARE Consortium. MetS was defined in accordance with NCEP ATPIII criteria as the simultaneous alteration in >= 3 of the 5 components: abdominal obesity (W), high triglycerides (T), low HDL cholesterol (H), elevated blood pressure (B), and elevated fasting glucose (G). PWV measured in each cohort was "normalized" to account for different acquisition methods. MetS had an overall prevalence of 24.2% (4985 subjects). MetS accelerated the age-associated increase in PWV levels at any age, and similarly in men and women. MetS clusters TBW, GBW, and GTBW are consistently associated with significantly stiffer arteries to an extent similar or greater than observed in subjects with alteration in all the five MetS components - even after controlling for age, sex, smoking, cholesterol levels, and diabetes mellitus - in all the MARE cohorts. In conclusion, different component clusters of MetS showed varying associations with arterial stiffness (PWV). (C) 2014 Elsevier Ireland Ltd. All rights reserved., NIH -National Institutes of Health
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- 2014
23. The burden of multiple sclerosis variants in continental Italians and Sardinians
- Author
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Barizzone N, Zara I, Sorosina M, Lupoli S, Porcu E, Pitzalis M, Zoledziewska M, Esposito F, Leone M, Mulas A, Cocco E, Ferrigno P, Guerini FR, Brambilla P, Farina G, Murru R, Deidda F, Sanna S, Loi A, Barlassina C, Vecchio D, Zauli A, Clarelli F, Braga D, Poddie F, Cantello R, Martinelli V, Frau J, Lorefice L, Pugliatti M, Rosati G, PROGEMUS Consortium PROGRESSO Consortium, Melis M, Marrosu MG, Cusi D, Cucca F, Martinelli Boneschi F, D'Alfonso S., COMI , GIANCARLO, Barizzone, N, Zara, I, Sorosina, M, Lupoli, S, Porcu, E, Pitzalis, M, Zoledziewska, M, Esposito, F, Leone, M, Mulas, A, Cocco, E, Ferrigno, P, Guerini, Fr, Brambilla, P, Farina, G, Murru, R, Deidda, F, Sanna, S, Loi, A, Barlassina, C, Vecchio, D, Zauli, A, Clarelli, F, Braga, D, Poddie, F, Cantello, R, Martinelli, V, Comi, Giancarlo, Frau, J, Lorefice, L, Pugliatti, M, Rosati, G, PROGEMUS Consortium PROGRESSO, Consortium, Melis, M, Marrosu, Mg, Cusi, D, Cucca, F, Martinelli Boneschi, F, and D'Alfonso, S.
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- 2015
24. S4D:4 Variant of the tnfsf13b gene encoding for b-cell activating factor confers susceptibility to sle, increased serum baff cytokine and autoantibodies production
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Piga, M, primary, Steri, M, additional, Orrù, V, additional, Idda, L, additional, Pitzalis, M, additional, Cucca, F, additional, and Mathieu, A, additional
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- 2018
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25. Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome
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Angius, A., primary, Cossu, S., additional, Uva, P., additional, Oppo, M., additional, Onano, S., additional, Persico, I., additional, Fotia, G., additional, Atzeni, R., additional, Cuccuru, G., additional, Asunis, M., additional, Cucca, F., additional, Pruna, D., additional, and Crisponi, L., additional
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- 2018
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26. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations
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Okada, Y, Sim, X, Go, Mj, Wu, Jy, Gu, D, Takeuchi, F, Takahashi, A, Maeda, S, Tsunoda, T, Chen, P, Lim, Sc, Wong, Ty, Liu, J, Young, Tl, Aung, T, Seielstad, M, Teo, Yy, Kim, Yj, Lee, Jy, Han, Bg, Kang, D, Chen, Ch, Tsai, Fj, Chang, Lc, Fann, Sj, Mei, H, Rao, Dc, Hixson, Je, Chen, S, Katsuya, T, Isono, M, Ogihara, T, Chambers, Jc, Zhang, W, Kooner, Js, Kidneygen, Consortium, Ckdgen, Consortium, Albrecht, E, Gugc, Consortium, Yamamoto, K, Kubo, M, Nakamura, Y, Kamatani, N, Kato, N, He, J, Chen, Yt, Cho, Ys, Tai, Es, Tanaka, T., Lord, Gm, van der Harst, P, Lawlor, Da, Sehmi, Js, Gale, Dp, Wass, Mn, Ahmadi, Kr, Bakker, Sj, Beckmann, J, Bilo, Hj, Bochud, M, Brown, Mj, Caulfield, Mj, Connell, Jm, Cook, Ht, Cotlarciuc, I, Smith, Gd, de Silva, R, Deng, G, Devuyst, O, Dikkeschei, Ld, Dimkovic, N, Dockrell, M, Dominiczak, A, Ebrahim, S, Eggermann, T, Farrall, M, Ferrucci, L, Floege, J, Forouhi, Ng, Gansevoort, Rt, Han, X, Hedblad, B, van der Heide JJ, Hepkema, Bg, Hernandez Fuentes, M, Hypponen, E, Johnson, T, de Jong PE, Kleefstra, N, Lagou, V, Lapsley, M, Li, Y, Loos, Rj, Luan, J, Luttropp, K, Maréchal, C, Melander, O, Munroe, Pb, Nordfors, L, Parsa, A, Peltonen, L, Penninx, Bw, Perucha, E, Pouta, A, Prokopenko, I, Roderick, Pj, Ruokonen, A, Samani, Nj, Sanna, S, Schalling, M, Schlessinger, D, Schlieper, G, Seelen, Ma, Shuldiner, Ar, Sjögren, M, Smit, Jh, Snieder, H, Soranzo, N, Spector, Td, Stenvinkel, P, Sternberg, Mj, Swaminathan, R, Tanaka, T, Ubink Veltmaat LJ, Uda, M, Vollenweider, P, Wallace, C, Waterworth, D, Zerres, K, Waeber, G, Wareham, Nj, Maxwell, Ph, Mccarthy, Mi, Jarvelin, Mr, Mooser, V, Abecasis, Gr, Lightstone, L, Scott, J, Navis, G, Elliott, P, Köttgen, A, Pattaro, C, Böger, Ca, Fuchsberger, C, Olden, M, Glazer, Nl, Gao, X, Yang, Q, Smith, Av, O'Connell, Jr, Li, M, Schmidt, H, Isaacs, A, Ketkar, S, Hwang, Sj, Johnson, Ad, Dehghan, A, Teumer, A, Paré, G, Atkinson, Ej, Zeller, T, Lohman, K, Cornelis, Mc, Probst Hensch NM, Kronenberg, F, Tönjes, A, Hayward, C, 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D.P., Wass, M.N., Ahmadi, K.R., Bakker, S.J., Beckmann, J., Bilo, H.J., Bochud, M., Brown, M.J., Caulfield, M.J., Connell, J.M., Cook, H.T., Cotlarciuc, I., Smith, G.D., de Silva, R., Deng, G., Devuyst, O., Dikkeschei, L.D., Dimkovic, N., Dockrell, M., Dominiczak, A., Ebrahim, S., Eggermann, T., Farrall, M., Ferrucci, L., Floege, J., Forouhi, N.G., Gansevoort, R.T., Han, X., Hedblad, B., van der Heide, J.J., Hepkema, B.G., Hernandez-Fuentes, M., Hypponen, E., Johnson, T., de Jong, P.E., Kleefstra, N., Lagou, V., Lapsley, M., Li, Y., Loos, R.J., Luan, J., Luttropp, K., Maréchal, C., Melander, O., Munroe, P.B., Nordfors, L., Parsa, A., Peltonen, L., Penninx, B.W., Perucha, E., Pouta, A., Prokopenko, I., Roderick, P.J., Ruokonen, A., Samani, N.J., Sanna, S., Schalling, M., Schlessinger, D., Schlieper, G., Seelen, M.A., Shuldiner, A.R., Sjögren, M., Smit, J.H., Snieder, H., Soranzo, N., Spector, T.D., Stenvinkel, P., Sternberg, M.J., Swaminathan, R., Tanaka, T., Ubink-Veltmaat, L.J., Uda, 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Wilde, S., Munzel, T.F., Leak, T.S., Illig, T., Klopp, N., Meisinger, C., Wichmann, H.E., Koenig, W., Zgaga, L., Zemunik, T., Kolcic, I., Minelli, C., Hu, F.B., Johansson, Å., Igl, W., Zaboli, G., Wild, S.H., Wright, A.F., Campbell, H., Ellinghaus, D., Schreiber, S., Aulchenko, Y.S., Felix, J.F., Rivadeneira, F., Uitterlinden, A.G., Hofman, A., Imboden, M., Nitsch, D., Brandstätter, A., Kollerits, B., Kedenko, L., Mägi, R., Stumvoll, M., Kovacs, P., Boban, M., Campbell, S., Endlich, K., Völzke, H., Kroemer, H.K., Nauck, M., Völker, U., Polasek, O., Vitart, V., Badola, S., Parker, A.N., Ridker, P.M., Kardia, S.L., Blankenberg, S., Liu, Y., Curhan, G.C., Franke, A., Rochat, T., Paulweber, B., Wang, W., Gudnason, V., Coresh, J., Schmidt, R., Shlipak, M.G., van Duijn, C.M., Borecki, I., Krämer, B.K., Rudan, I., Gyllensten, U., Wilson, J.F., Witteman, J.C., Pramstaller, P.P., Rettig, R., Hastie, N., Chasman, D.I., Kao, W.H., Heid, I.M., Fox, C.S., Albrecht, E., Krumsiek, J., Hundertmark, 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Jer-Yuarn, Gu, Dongfeng, Takeuchi, Fumihiko, Takahashi, Atsushi, Maeda, Shiro, Tsunoda, Tatsuhiko, Chen, Peng, Lim, Su-Chi, Wong, Tien-Yin, Liu, Jianjun, Young, Terri L., Aung, Tin, Seielstad, Mark, Teo, Yik-Ying, Kim, Young Jin, Lee, Jong-Young, Han, Bok-Ghee, Kang, Daehee, Chen, Chien-Hsiun, Tsai, Fuu-Jen, Chang, Li-Ching, Cathy Fann, S. -J. C., Mei, Hao, Rao, Dabeeru C., Hixson, James E., Chen, Shufeng, Katsuya, Tomohiro, Isono, Masato, Ogihara, Toshio, Chambers, John C., Zhang, Weihua, Kooner, Jaspal S., Albrecht, Eva, Yamamoto, Kazuhiko, Kubo, Michiaki, Nakamura, Yusuke, Kamatani, Naoyuki, Kato, Norihiro, He, Jiang, Chen, Yuan-Tsong, Cho, Yoon Shin, Tai, E-Shyong, Tanaka, Toshihiro, de Silva, R Deng G, Hernandez-Fuentes, M, Ubink-Veltmaat, Lj, Probst-Hensch, Nm, Giallauria, Francesco, Pirastu, N, D'Adamo, P, Gasparini, P, and Bouatia-Naji, N
- Subjects
Asian Continental Ancestry Group ,kidney ,Population ,Renal function ,Genome-wide association study ,Biology ,Kidney ,Polymorphism, Single Nucleotide ,Article ,Blood Urea Nitrogen ,Cohort Studies ,chemistry.chemical_compound ,SDG 3 - Good Health and Well-being ,Asian People ,loci ,Asian ,medicine ,Humans ,genetics ,Genetic Predisposition to Disease ,Renal Insufficiency, Chronic ,education ,meta-analysis ,Genome-Wide Association Study ,Genetic association ,Genetics ,Creatinine ,education.field_of_study ,ta3121 ,medicine.disease ,Uric Acid ,Asian Continental Ancestry Group/genetics ,Creatinine/blood ,Glomerular Filtration Rate/genetics ,Kidney/physiology ,Renal Insufficiency, Chronic/genetics ,Uric Acid/blood ,medicine.anatomical_structure ,chemistry ,Genetic epidemiology ,Cohort Studie ,Human ,Kidney disease ,Glomerular Filtration Rate - Abstract
Chronic kidney disease (CKD), impairment of kidney function, is a serious public health problem, and the assessment of genetic factors influencing kidney function has substantial clinical relevance. Here, we report a meta-analysis of genomewide association studies for kidney function-related traits, including 71,149 east Asian individuals from 18 studies in 11 population-, hospital- or family-based cohorts, conducted as part of the Asian Genetic Epidemiology Network (AGEN). Our meta-analysis identified 17 loci newly associated with kidney function-related traits, including the concentrations of blood urea nitrogen, uric acid and serum creatinine and estimated glomerular filtration rate based on serum creatinine levels (eGFRcrea) (P < 5.0 x 10(-8)). We further examined these loci with in silico replication in individuals of European ancestry from the KidneyGen, CKDGen and GUGC consortia, including a combined total of similar to 110,347 individuals. We identify pleiotropic associations among these loci with kidney function-related traits and risk of CKD. These findings provide new insights into the genetics of kidney function.
- Published
- 2012
27. Corrigendum: Rare coding variants and X-linked loci associated with age at menarche
- Author
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Lunetta, K.L., Day, F.R., Sulem, P., Ruth, K.S., Tung, J.Y., Hinds, D.A., Esko, T., Elks, C.E., Altmaier, E., He, C., Huffman, J.E., Mihailov, E., Porcu, E., Robino, A., Rose, L.M., Schick, U.M., Stolk, L., Teumer, A., Thompson, D.J., Traglia, M., Wang, C.A., Yerges-Armstrong, L.M., Antoniou, A.C., Barbieri, C., Coviello, A.D., Cucca, F., Demerath, E.W., Dunning, A.M., Gandin, I., Grove, M.L., Gudbjartsson, D.F., Hocking, L.J., Hofman, A., Huang, J., Jackson, R.D., Karasik, D., Kriebel, J., Lange, E.M., Lange, L.A., Langenberg, C., Li, X., Luan, J., Mägi, R., Morrison, A.C., Padmanabhan, S., Pirie, A., Polasek, O., Porteous, D.J., Reiner, A.P., Rivadeneira, F., Rudan, I., Sala, C.F., Schlessinger, D., Scott, R.A., Stöckl, D., Visser, J.A., Völker, U., Vozzi, D., Wilson, J.G., Zygmunt, M., EPIC-Interact Consortium (), Generation Scotland Consortium (), Boerwinkle, E., Buring, J.E., Crisponi, L., Easton, D.F., Hayward, C., Hu, F.B., Liu, S., Metspalu, A., Pennell, C.E., Ridker, P.M., Strauch, K., Streeten, E.A., Toniolo, D., Uitterlinden, A.G., Ulivi, S., Völzke, H., Wareham, N.J., Wellons, M., Franceschini, N., Chasman, D.I., Thorsteinsdottir, U., Murray, A., Stefansson, K., Murabito, J.M., Ong, K.K., and Perry, J.R.
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Adult ,Adolescent ,Genotype ,Mutation, Missense ,Immunoglobulins ,Cell Cycle Proteins ,Penetrance ,AMP-Activated Protein Kinases ,Autoantigens ,White People ,Young Adult ,Gene Frequency ,Genes, X-Linked ,Humans ,Aged ,Menarche ,Chromosomes, Human, X ,Hypogonadism ,Fatty Acids ,Age Factors ,Genetic Variation ,Membrane Proteins ,Proteins ,RNA-Binding Proteins ,Receptors, Neurokinin-3 ,Middle Aged ,Corrigenda ,Amides ,Phenotype ,Codon, Nonsense ,Female ,RNA Interference ,Laminin ,Energy Metabolism ,Signal Transduction - Abstract
More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele; P5 × 10(-8)). In addition, we identify common X-chromosome loci at IGSF1 (rs762080, P=9.4 × 10(-13)) and FAAH2 (rs5914101, P=4.9 × 10(-10)). Highlighted genes implicate cellular energy homeostasis, post-transcriptional gene silencing and fatty-acid amide signalling. A frequently reported mutation in TACR3 for idiopathic hypogonatrophic hypogonadism (p.W275X) is associated with 1.25-year-later menarche (P=2.8 × 10(-11)), illustrating the utility of population studies to estimate the penetrance of reportedly pathogenic mutations. Collectively, these novel variants explain ∼0.5% variance, indicating that these overlooked sources of variation do not substantially explain the 'missing heritability' of this complex trait.
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- 2015
28. A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function
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McCarthy, M.I., Porcu, E., Medici, M., Pistis, G., Volpato, C.B., Wilson, S.G., Cappola, A.R., Bos, S.D., Deelen, J., den Heijer, M., Freathy, R.M., Lahti, J., Liu, C., Lopez, L.M., Nolte, I.M., O'Connell, J.R., Tanaka, T., Trompet, S., Arnold, A., Bandinelli, S., Beekman, M., Böhringer, S., Brown, S.J., Buckley, B.M., Camaschella, C., de Craen, A.J.M., Davies, G., de Visser, M.C.H., Ford, I., Forsen, T., Frayling, T.M., Fugazzola, L., Gögele, M., Hattersley, A.T., Hermus, A.R., Hofman, A., Houwing-Duistermaat, J.J., Jensen, R.A., Kajantie, E., Kloppenburg, M., Lim, E.M., Masciullo, C., Mariotti, S., Minelli, C., Mitchell, B.D., Nagaraja, R., Netea-Maier, R.T., Palotie, A., Persani, L., Piras, M.G., Psaty, B.M., Räikkönen, K., Richards, J.B., Rivadeneira, F., Sala, C., Sabra, M.M., Sattar, N., Shields, B.M., Soranzo, N., Starr, J.M., Stott, D.J., Sweep, F.C.G.J., Usala, G., van der Klauw, M.M., van Heemst, D., van Mullem, A., H.Vermeulen, S., Visser, W.E., Walsh, J.P., Westendorp, R.G.J., Widen, E., Zhai, G., Cucca, F., Deary, I.J., Eriksson, J.G., Ferrucci, L., Fox, C.S., Jukema, J.W., Kiemeney, L.A., Pramstaller, P.P., Schlessinger, D., Shuldiner, A.R., Slagboom, E.P., Uitterlinden, A.G., Vaidya, B., Visser, T.J., Wolffenbuttel, B.H.R., Meulenbelt, I., Rotter, J.I., Spector, T.D., Hicks, A.A., Toniolo, D., Sanna, S., Peeters, R.P., Naitza, S., Internal Medicine, Clinical Genetics, Public Health, Epidemiology, Internal medicine, ICaR - Circulation and metabolism, Behavioural Sciences, Clinicum, Department of General Practice and Primary Health Care, Children's Hospital, Lastentautien yksikkö, Institute for Molecular Medicine Finland, Haartman Institute (-2014), Department of Medical and Clinical Genetics, Diabetes and Obesity Research Program, Developmental Psychology Research Group, Genomics of Neurological and Neuropsychiatric Disorders, Genomic Discoveries and Clinical Translation, Life Course Epidemiology (LCE), Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM), Porcu, E, Medici, M, Pistis, G, Volpato, Cb, Wilson, Sg, Cappola, Ar, Bos, Sd, Deelen, J, DEN HEIJER, M, Freathy, Rm, Lahti, J, Liu, C, Lopez, Lm, Nolte, Im, O'Connell, Jr, Tanaka, T, Trompet, S, Arnold, A, Bandinelli, S, Beekman, M, Böhringer, S, Brown, Sj, Buckley, Bm, Camaschella, Clara, DE CRAEN, Aj, Davies, G, DE VISSER, Mc, Ford, I, Forsen, T, Frayling, Tm, Fugazzola, L, Gögele, M, Hattersley, At, Hermus, Ar, Hofman, A, HOUWING DUISTERMAAT, Jj, Jensen, Ra, Kajantie, E, Kloppenburg, M, Lim, Em, Masciullo, C, Mariotti, S, Minelli, C, Mitchell, Bd, Nagaraja, R, NETEA MAIER, Rt, Palotie, A, Persani, L, Piras, Mg, Psaty, Bm, Räikkönen, K, Richards, Jb, Rivadeneira, F, Sala, C, Sabra, Mm, Sattar, N, Shields, Bm, Soranzo, N, Starr, Jm, Stott, Dj, Sweep, Fc, Usala, G, VAN DER KLAUW, Mm, VAN HEEMST, D, VAN MULLEM, A, Vermeulen, Sh, Visser, We, Walsh, Jp, Westendorp, Rg, Widen, E, Zhai, G, Cucca, F, Deary, Ij, Eriksson, Jg, Ferrucci, L, Fox, C, Jukema, Jw, Kiemeney, La, Pramstaller, Pp, Schlessinger, D, Shuldiner, Ar, Slagboom, Ep, Uitterlinden, Ag, Vaidya, B, Visser, Tj, Wolffenbuttel, Bh, Meulenbelt, I, Rotter, Ji, Spector, Td, Hicks, Aa, Toniolo, D, Sanna, S, Peeters, Rp, and Naitza, S.
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Male ,Cancer Research ,endocrine system diseases ,Factor binding protein 5 ,Thyroid Gland ,FACTOR BINDING PROTEIN-5 ,Thyrotropin ,Genome-wide association study ,Expression ,Aetiology, screening and detection [ONCOL 5] ,Growth ,Hyperthyroidism ,CLEFT-PALATE ,Serum TSH ,0302 clinical medicine ,Euthyroid ,Genetics (clinical) ,0303 health sciences ,Sex Characteristics ,factor binding protein-S ,Thyroid ,3. Good health ,medicine.anatomical_structure ,Phenotype ,NFIA ,Cleft palate ,GROWTH ,Genome wide Association ,Female ,Thyroid function ,hormones, hormone substitutes, and hormone antagonists ,Research Article ,Signal Transduction ,EXPRESSION ,medicine.medical_specialty ,endocrine system ,lcsh:QH426-470 ,cleft-palate ,515 Psychology ,education ,030209 endocrinology & metabolism ,Biology ,Polymorphism, Single Nucleotide ,Molecular epidemiology [NCEBP 1] ,03 medical and health sciences ,Thyroid-stimulating hormone ,Hypothyroidism ,SERUM TSH ,Internal medicine ,medicine ,Genetics ,Humans ,Hormonal regulation Translational research [IGMD 6] ,GENOME-WIDE ASSOCIATION ,Molecular Biology ,Ecology, Evolution, Behavior and Systematics ,Health aging / healthy living Cardiovascular diseases [IGMD 5] ,030304 developmental biology ,Molecular epidemiology Aetiology, screening and detection [NCEBP 1] ,Polymorphism, Genetic ,THYROTROPIN ,HORMONE PATHWAY GENES ,Hormonal regulation [IGMD 6] ,R1 ,Thyroxine ,Common variation ,lcsh:Genetics ,Endocrinology ,HYPOTHYROIDISM ,Hormone pathway genes ,genome-wide association ,Hormonal regulation Aetiology, screening and detection [IGMD 6] ,3111 Biomedicine ,COMMON VARIATION ,Hormone ,FOXE1 ,Genome-Wide Association Study ,Developmental Biology - Abstract
Thyroid hormone is essential for normal metabolism and development, and overt abnormalities in thyroid function lead to common endocrine disorders affecting approximately 10% of individuals over their life span. In addition, even mild alterations in thyroid function are associated with weight changes, atrial fibrillation, osteoporosis, and psychiatric disorders. To identify novel variants underlying thyroid function, we performed a large meta-analysis of genome-wide association studies for serum levels of the highly heritable thyroid function markers TSH and FT4, in up to 26,420 and 17,520 euthyroid subjects, respectively. Here we report 26 independent associations, including several novel loci for TSH (PDE10A, VEGFA, IGFBP5, NFIA, SOX9, PRDM11, FGF7, INSR, ABO, MIR1179, NRG1, MBIP, ITPK1, SASH1, GLIS3) and FT4 (LHX3, FOXE1, AADAT, NETO1/FBXO15, LPCAT2/CAPNS2). Notably, only limited overlap was detected between TSH and FT4 associated signals, in spite of the feedback regulation of their circulating levels by the hypothalamic-pituitary-thyroid axis. Five of the reported loci (PDE8B, PDE10A, MAF/LOC440389, NETO1/FBXO15, and LPCAT2/CAPNS2) show strong gender-specific differences, which offer clues for the known sexual dimorphism in thyroid function and related pathologies. Importantly, the TSH-associated loci contribute not only to variation within the normal range, but also to TSH values outside the reference range, suggesting that they may be involved in thyroid dysfunction. Overall, our findings explain, respectively, 5.64% and 2.30% of total TSH and FT4 trait variance, and they improve the current knowledge of the regulation of hypothalamic-pituitary-thyroid axis function and the consequences of genetic variation for hypo- or hyperthyroidism., Author Summary Levels of thyroid hormones are tightly regulated by TSH produced in the pituitary, and even mild alterations in their concentrations are strong indicators of thyroid pathologies, which are very common worldwide. To identify common genetic variants associated with the highly heritable markers of thyroid function, TSH and FT4, we conducted a meta-analysis of genome-wide association studies in 26,420 and 17,520 individuals, respectively, of European ancestry with normal thyroid function. Our analysis identified 26 independent genetic variants regulating these traits, several of which are new, and confirmed previously detected polymorphisms affecting TSH (within the PDE8B gene and near CAPZB, MAF/LOC440389, and NR3C2) and FT4 (within DIO1) levels. Gender-specific differences in the genetic effects of several variants for TSH and FT4 levels were identified at several loci, which offer clues to understand the known sexual dimorphism in thyroid function and pathology. Of particular clinical interest, we show that TSH-associated loci contribute not only to normal variation, but also to TSH values outside reference range, suggesting that they may be involved in thyroid dysfunction. Overall, our findings add to the developing landscape of the regulation of thyroid homeostasis and the consequences of genetic variation for thyroid related diseases.
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- 2013
29. A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site
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Nürnberg ST, Rendon A, Smethurst PA, Paul DS, Voss K, Thon JN, Lloyd Jones H, Sambrook JG, Tijssen MR, Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G, Serbanovic Canic J, Elling U, Goodall AH, Labrune Y, Lopez LM, Mägi R, Meacham S, Okada Y, Sorice R, Teumer A, Zhang W, Ramirez Solis R, Bis JC, Ellinghaus D, Gögele M, Hottenga JJ, Langenberg C, Kovacs P, F. P, Shin SY, Esko T, Hartiala J, Kanoni S, Murgia F, Parsa A, Stephens J, van der Harst P, van der Schoot C, Allayee H, Attwood A, Balkau B, Bastardot F, Basu S, Baumeister SE, Biino G, Bomba L, Bonnefond A, Cambien F, Chambers JC, Cucca F, Davies G, de Geus EJ, de Boer RA, Döring A, Elliott P, Erdmann J, Feng W, Evans DM, Falchi M, Folsom AR, Frazer IH, Gibson QD, Glazer NL, Hammond C, Hartikainen AL, Heckbert SR, Hengstenberg C, Hersch M, Illig T, Loos RJ, Jolley J, Khaw KT, Kühnel B, Kyrtsonis MC, Lagou V, Lumley T, Mangino M, Maschio A, Mateo Leach I, McKnight B, Memari Y, Mitchell BD, Montgomery GW, Nöthlings U, Nakamura Y, Nauck M, Navis G, Nolte IM, Porteous DJ, Pouta A, Pramstaller PP, Pullat J, Ring SM, Rotter JI, Ruggiero D, Ruokonen A, Sala C, Samani NJ, Sambrook J, Schlessinger D, Schreiber S, Schunkert H, Scott J, Smith NL, Snieder H, Starr JM, Stumvoll M, Takahashi A, Taylor K, Tenesa A, Thein SL, Tönjes A, Uda M, Ulivi S, Wichmann HE, Yang TP, van Veldhuisen DJ, Visscher PM, Völker U, Wiggins KL, Willemsen G, Zhao JH, Zitting P, Bradley JR, Dedoussis GV, Hazen SL, Metspalu A, Pirastu M, Shuldiner AR, van Pelt L, Zwaginga JJ, Boomsma DI, Deary IJ, Franke A, Froguel P, Ganesh SK, Jarvelin MR, Martin NG, Meisinger C, Psaty BM, Spector TD, Wareham NJ, Akkerman JW, Ciullo M, Deloukas P, Greinacher A, Jupe S, Kamatani N, Khadake J, Kooner JS, Penninger J, Prokopenko I, Stemple D, Toniolo D, Wernisch L, Sanna S, Hicks AA, Ferreira MA, Italiano JE Jr, Gottgens B, Soranzo N, Ouwehand WH, PIRASTU, Nicola, D'ADAMO, ADAMO PIO, GASPARINI, PAOLO, Nürnberg, St, Rendon, A, Smethurst, Pa, Paul, D, Voss, K, Thon, Jn, Lloyd Jones, H, Sambrook, Jg, Tijssen, Mr, Gieger, C, Radhakrishnan, A, Cvejic, A, Tang, W, Porcu, E, Pistis, G, Serbanovic Canic, J, Elling, U, Goodall, Ah, Labrune, Y, Lopez, Lm, Mägi, R, Meacham, S, Okada, Y, Pirastu, Nicola, Sorice, R, Teumer, A, Zhang, W, Ramirez Solis, R, Bis, Jc, Ellinghaus, D, Gögele, M, Hottenga, Jj, Langenberg, C, Kovacs, P, F., P, Shin, Sy, Esko, T, Hartiala, J, Kanoni, S, Murgia, F, Parsa, A, Stephens, J, van der Harst, P, van der Schoot, C, Allayee, H, Attwood, A, Balkau, B, Bastardot, F, Basu, S, Baumeister, Se, Biino, G, Bomba, L, Bonnefond, A, Cambien, F, Chambers, Jc, Cucca, F, D'Adamo, ADAMO PIO, Davies, G, de Geus, Ej, de Boer, Ra, Döring, A, Elliott, P, Erdmann, J, Feng, W, Evans, Dm, Falchi, M, Folsom, Ar, Frazer, Ih, Gibson, Qd, Glazer, Nl, Hammond, C, Hartikainen, Al, Heckbert, Sr, Hengstenberg, C, Hersch, M, Illig, T, Loos, Rj, Jolley, J, Khaw, Kt, Kühnel, B, Kyrtsonis, Mc, Lagou, V, Lumley, T, Mangino, M, Maschio, A, Mateo Leach, I, Mcknight, B, Memari, Y, Mitchell, Bd, Montgomery, Gw, Nöthlings, U, Nakamura, Y, Nauck, M, Navis, G, Nolte, Im, Porteous, Dj, Pouta, A, Pramstaller, Pp, Pullat, J, Ring, Sm, Rotter, Ji, Ruggiero, D, Ruokonen, A, Sala, C, Samani, Nj, Sambrook, J, Schlessinger, D, Schreiber, S, Schunkert, H, Scott, J, Smith, Nl, Snieder, H, Starr, Jm, Stumvoll, M, Takahashi, A, Taylor, K, Tenesa, A, Thein, Sl, Tönjes, A, Uda, M, Ulivi, S, Wichmann, He, Yang, Tp, van Veldhuisen, Dj, Visscher, Pm, Völker, U, Wiggins, Kl, Willemsen, G, Zhao, Jh, Zitting, P, Bradley, Jr, Dedoussis, Gv, Gasparini, Paolo, Hazen, Sl, Metspalu, A, Pirastu, M, Shuldiner, Ar, van Pelt, L, Zwaginga, Jj, Boomsma, Di, Deary, Ij, Franke, A, Froguel, P, Ganesh, Sk, Jarvelin, Mr, Martin, Ng, Meisinger, C, Psaty, Bm, Spector, Td, Wareham, Nj, Akkerman, Jw, Ciullo, M, Deloukas, P, Greinacher, A, Jupe, S, Kamatani, N, Khadake, J, Kooner, J, Penninger, J, Prokopenko, I, Stemple, D, Toniolo, D, Wernisch, L, Sanna, S, Hicks, Aa, Ferreira, Ma, Italiano JE, Jr, Gottgens, B, Soranzo, N, Ouwehand, Wh, Biological Psychology, and EMGO+ - Mental Health
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Netherlands Twin Register (NTR) ,Transcription, Genetic ,Gene Expression ,Biochemistry ,megakaryocyte ,Mice ,DNM3 promoter ,Transcription (biology) ,GWAS ,Platelet ,Thrombopoiesis ,Myeloid Ecotropic Viral Integration Site 1 Protein ,Promoter Regions, Genetic ,Cells, Cultured ,Reverse Transcriptase Polymerase Chain Reaction ,Hematology ,Neoplasm Proteins ,Haematopoiesis ,Transcription Initiation Site ,Megakaryocytes ,platelet volume ,DNM3 ,megakaryocytes ,MEIS1 ,Blood Platelets ,Chromatin Immunoprecipitation ,Immunology ,Biology ,Polymorphism, Single Nucleotide ,MEIS1 binding site ,SDG 3 - Good Health and Well-being ,Cell Line, Tumor ,Animals ,Humans ,Cell Lineage ,Binding site ,Gene ,Transcription factor ,Homeodomain Proteins ,Binding Sites ,Genome, Human ,Platelet Count ,Hydrazones ,Genetic Variation ,Cell Biology ,Sequence Analysis, DNA ,Platelets and Thrombopoiesis ,Molecular biology ,Dynamin III - Abstract
We recently identified 68 genomic loci where common sequence variants are associated with platelet count and volume. Platelets are formed in the bone marrow by megakaryocytes, which are derived from hematopoietic stem cells by a process mainly controlled by transcription factors. The homeobox transcription factor MEIS1 is uniquely transcribed in megakaryocytes and not in the other lineage-committed blood cells. By ChIP-seq, we show that 5 of the 68 loci pinpoint a MEIS1 binding event within a group of 252 MK-overexpressed genes. In one such locus in DNM3, regulating platelet volume, the MEIS1 binding site falls within a region acting as an alternative promoter that is solely used in megakaryocytes, where allelic variation dictates different levels of a shorter transcript. The importance of dynamin activity to the latter stages of thrombopoiesis was confirmed by the observation that the inhibitor Dynasore reduced murine proplatelet for-mation in vitro.
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- 2013
30. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma
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Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, Van der Harst P, Holm H, Sanna S, Kavousi M, Baumeister SE, Coin LJ, Deng G, Gieger C, Heard Costa NL, Hottenga JJ, Kühnel B, Kumar V, Lagou V, Liang L, Luan J, Vidal PM, Mateo Leach I, O'Reilly PF, Peden JF, Rahmioglu N, Soininen P, Speliotes EK, Yuan X, Thorleifsson G, Alizadeh BZ, Atwood LD, Borecki IB, Brown MJ, Charoen P, Cucca F, Das D, de Geus EJ, Dixon AL, Döring A, Ehret G, Eyjolfsson GI, Farrall M, Forouhi NG, Friedrich N, Goessling W, Gudbjartsson DF, Harris TB, Hartikainen AL, Heath S, Hirschfield GM, Hofman A, Homuth G, Hyppönen E, Janssen HL, Johnson T, Kangas AJ, Kema IP, Kühn JP, Lai S, Lathrop M, Lerch MM, Li Y, Liang TJ, Lin JP, Loos RJ, Martin NG, Moffatt MF, Montgomery GW, Munroe PB, Musunuru K, Nakamura Y, O'Donnell CJ, Olafsson I, Penninx BW, Pouta A, Prins BP, Prokopenko I, Puls R, Ruokonen A, Savolainen MJ, Schlessinger D, Schouten JN, Seedorf U, Sen Chowdhry S, Siminovitch KA, Smit JH, Spector TD, Tan W, Teslovich TM, Tukiainen T, Uitterlinden AG, Van der Klauw MM, Vasan RS, Wallace C, Wallaschofski H, Wichmann HE, Willemsen G, Würtz P, Xu C, Yerges Armstrong LM, Alcohol Genome wide Association Consortium, Diabetes Genetics Replication, Meta analyses Study, Genetic Investigation of Anthropometric Traits Consortium, Global Lipids Genetics Consortium, Genetics of Liver Disease Consortium, International Consortium for Blood Pressure, Meta analyses of Glucose, Insulin Related Traits Consortium, Abecasis GR, Ahmadi KR, Boomsma DI, Caulfield M, Cookson WO, van Duijn CM, Froguel P, Matsuda K, McCarthy MI, Meisinger C, Mooser V, Pietiläinen KH, Schumann G, Snieder H, Sternberg MJ, Stolk RP, Thomas HC, Thorsteinsdottir U, Uda M, Waeber G, Wareham NJ, Waterworth DM, Watkins H, Whitfield JB, Witteman JC, Wolffenbuttel BH, Fox CS, Ala Korpela M, Stefansson K, Vollenweider P, Völzke H, Schadt EE, Scott J, Järvelin MR, Elliott P, Kooner JS, PAOLISSO, Giuseppe, Chambers, Jc, Zhang, W, Sehmi, J, Li, X, Wass, Mn, Van der Harst, P, Holm, H, Sanna, S, Kavousi, M, Baumeister, Se, Coin, Lj, Deng, G, Gieger, C, Heard Costa, Nl, Hottenga, Jj, Kühnel, B, Kumar, V, Lagou, V, Liang, L, Luan, J, Vidal, Pm, Mateo Leach, I, O'Reilly, Pf, Peden, Jf, Rahmioglu, N, Soininen, P, Speliotes, Ek, Yuan, X, Thorleifsson, G, Alizadeh, Bz, Atwood, Ld, Borecki, Ib, Brown, Mj, Charoen, P, Cucca, F, Das, D, de Geus, Ej, Dixon, Al, Döring, A, Ehret, G, Eyjolfsson, Gi, Farrall, M, Forouhi, Ng, Friedrich, N, Goessling, W, Gudbjartsson, Df, Harris, Tb, Hartikainen, Al, Heath, S, Hirschfield, Gm, Hofman, A, Homuth, G, Hyppönen, E, Janssen, Hl, Johnson, T, Kangas, Aj, Kema, Ip, Kühn, Jp, Lai, S, Lathrop, M, Lerch, Mm, Li, Y, Liang, Tj, Lin, Jp, Loos, Rj, Martin, Ng, Moffatt, Mf, Montgomery, Gw, Munroe, Pb, Musunuru, K, Nakamura, Y, O'Donnell, Cj, Olafsson, I, Penninx, Bw, Pouta, A, Prins, Bp, Prokopenko, I, Puls, R, Ruokonen, A, Savolainen, Mj, Schlessinger, D, Schouten, Jn, Seedorf, U, Sen Chowdhry, S, Siminovitch, Ka, Smit, Jh, Spector, Td, Tan, W, Teslovich, Tm, Tukiainen, T, Uitterlinden, Ag, Van der Klauw, Mm, Vasan, R, Wallace, C, Wallaschofski, H, Wichmann, He, Willemsen, G, Würtz, P, Xu, C, Yerges Armstrong, Lm, Alcohol Genome wide Association, Consortium, Diabetes Genetics, Replication, Meta analyses, Study, Genetic Investigation of Anthropometric Traits, Consortium, Global Lipids Genetics, Consortium, Genetics of Liver Disease, Consortium, International Consortium for Blood, Pressure, Meta analyses of, Glucose, Insulin Related Traits, Consortium, Abecasis, Gr, Ahmadi, Kr, Boomsma, Di, Caulfield, M, Cookson, Wo, van Duijn, Cm, Froguel, P, Matsuda, K, Mccarthy, Mi, Meisinger, C, Mooser, V, Pietiläinen, Kh, Schumann, G, Snieder, H, Sternberg, Mj, Stolk, Rp, Thomas, Hc, Thorsteinsdottir, U, Uda, M, Waeber, G, Wareham, Nj, Waterworth, Dm, Watkins, H, Whitfield, Jb, Witteman, Jc, Wolffenbuttel, Bh, Fox, C, Ala Korpela, M, Stefansson, K, Vollenweider, P, Völzke, H, Schadt, Ee, Scott, J, Järvelin, Mr, Elliott, P, Kooner, J, and Paolisso, Giuseppe
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- 2011
31. Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
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Delaneau O., Marchini J., McVeanh G.A., Donnelly P., Lunter G., Marchini J.L., Myers, S., Gupta-Hinch, A., Iqbal, Z., Mathieson I., Rimmer, A., Xifara, D.K., Kerasidou, A., Churchhouse, C., Altshuler, D.M., Gabriel, S.B., Lander, E.S., Gupta, N., Daly, M.J., DePristo, M.A., Banks, E., Bhatia G., Carneiro, M.O., Del Angel G., Genovese G., Handsaker, R.E., Hartl, C., McCarroll, S.A., Nemesh J.C., Poplin, R.E., Schaffner, S.F., Shakir, K., Sabeti P.C., Grossman, S.R., Tabrizi, S., Tariyal, R., Li H., Reich, D., Durbin, R.M., Hurles, M.E., Balasubramaniam, S., Burton J., Danecek P., Keane, T.M., Kolb-Kokocinski, A., McCarthy, S., Stalker J., Quail, M., Ayub Q., Chen, Y., Coffey, A.J., Colonna V., Huang, N., Jostins L., Scally, A., Walter, K., Xue, Y., Zhang, Y., Blackburne, B., Lindsay, S.J., Ning, Z., Frankish, A., Harrow J., Chris, T.-S., Abecasis G.R., Kang H.M., Anderson P., Blackwell, T., Busonero F., Fuchsberger, C., Jun G., Maschio, A., Porcu, E., Sidore, C., Tan, A., Trost, M.K., Bentley, D.R., Grocock, R., Humphray, S., James, T., Kingsbury, Z., Bauer, M., Cheetham, R.K., Cox, T., Eberle, M., Murray L., Shaw, R., Chakravarti, A., Clark, A.G., Keinan, A., Rodriguez-Flores J.L., De LaVega F.M., Degenhardt J., Eichler, E.E., Flicek P., Clarke L., Leinonen, R., Smith, R.E., Zheng-Bradley X., Beal, K., Cunningham F., Herrero J., McLaren W.M., Ritchie G.R.S., Barker J., Kelman G., Kulesha, E., Radhakrishnan, R., Roa, A., Smirnov, D., Streeter I., Toneva I., Gibbs, R.A., Dinh H., Kovar, C., Lee, S., Lewis L., Muzny, D., Reid J., Wang, M., Yu F., Bainbridge, M., Challis, D., Evani, U.S., Lu J., Nagaswamy, U., Sabo, A., Wang, Y., Yu J., Fowler G., Hale W., Kalra, D., Green, E.D., Knoppers, B.M., Korbel J.O., Rausch, T., Sttz, A.M., Lee, C., Griffin L., Hsieh, C.-H., Mills, R.E., Von Grotthuss, M., Zhang, C., Shi X., Lehrach H., Sudbrak, R., Amstislavskiy V.S., Lienhard, M., Mertes F., Sultan, M., Timmermann, B., Yaspo, M.L., Herwig, S.R., Mardis, E.R., Wilson, R.K., Fulton L., Fulton, R., Weinstock G.M., Chinwalla, A., Ding L., Dooling, D., Koboldt, D.C., McLellan, M.D., Wallis J.W., Wendl, M.C., Zhang Q., Marth G.T., Garrison, E.P., Kural, D., Lee W.-P., Leong W.F., Ward, A.N., Wu J., Zhang, M., Nickerson, D.A., Alkan, C., Hormozdiari F., Ko, A., Sudmant P.H., Schmidt J.P., Davies, C.J., Gollub J., Webster, T., Wong, B., Zhan, Y., Sherry, S.T., Xiao, C., Church, D., Ananiev V., Belaia, Z., Beloslyudtsev, D., Bouk, N., Chen, C., Cohen, R., Cook, C., Garner J., Hefferon, T., Kimelman, M., Liu, C., Lopez J., Meric P., Ostapchuk, Y., Phan L., Ponomarov, S., Schneider V., Shekhtman, E., Sirotkin, K., Slotta, D., Zhang H., Wang J., Fang X., Guo X., Jian, M., Jiang H., Jin X., Li G., Li J., Li, Y., Liu X., Lu, Y., Ma X., Tai, S., Tang, M., Wang, B., Wang G., Wu H., Wu, R., Yin, Y., Zhang W., Zhao J., Zhao, M., Zheng X., Lachlan H., Fang L., Li Q., Li, Z., Lin H., Liu, B., Luo, R., Shao H., Xie, Y., Ye, C., Yu, C., Zheng H., Zhu H., Cai H., Cao H., Su, Y., Tian, Z., Yang H., Yang L., Zhu J., Cai, Z., Albrecht, M.W., Borodina, T.A., Auton, A., Yoon, S.C., Lihm J., Makarov V., Jin H., Kim W., Kim, K.C., Gottipati, S., Jones, D., Cooper, D.N., Ball, E.V., Stenson P.D., Barnes, B., Kahn, S., Ye, K., Batzer, M.A., Konkel, M.K., Walker J.A., MacArthur, D.G., Lek, M., Shriver, M.D., Bustamante, C.D., Gravel, S., Kenny, E.E., Kidd J.M., Lacroute P., Maples, B.K., Moreno-Estrada, A., Zakharia F., Henn, B., Sandoval, K., Byrnes J.K., Halperin, E., Baran, Y., Craig, D.W., Christoforides, A., Izatt, T., Kurdoglu, A.A., Sinari, S.A., Homer, N., Squire, K., Sebat J., Bafna V., Burchard, E.G., Hernandez, R.D., Gignoux, C.R., Haussler, D., Katzman, S.J., Kent W.J., Howie, B., Ruiz-Linares, A., Dermitzakis, E.T., Lappalainen, T., Devine, S.E., Maroo, A., Tallon L.J., Rosenfeld J.A., Michelson L.P., Angius, A., Cucca F., Sanna, S., Bigham, A., Jones, C., Reinier F., Lyons, R., Schlessinger, D., Awadalla P., Hodgkinson, A., Oleksyk, T.K., Martinez-Cruzado J.C., Fu, Y., Xiong, M., Jorde L., Witherspoon, D., Xing J., Browning, B.L., Hajirasouliha I., Chen, K., Albers, C.A., Gerstein, M.B., Abyzov, A., Chen J., Habegger L., Harmanci, A.O., Mu X.J., Sisu, C., Balasubramanian, S., Jin, M., Khurana, E., Clarke, D., Michaelson J.J., OSullivan, C., Barnes, K.C., Gharani, N., Toji L.H., Gerry, N., Kaye J.S., Kent, A., Mathias, R., Ossorio P.N., Parker, M., Rotimi, C.N., Royal, C.D., Tishkoff, S., Via, M., Bodmer W., Bedoya G., Yang G., You, C.J., Garcia-Montero, A., Orfao, A., Dutil J., Brooks L.D., Felsenfeld, A.L., McEwen J.E., Clemm, N.C., Guyer, M.S., Peterson J.L., Duncanson, A., Dunn, M., Peltonen L., and 1000 Genomes Project Consortium
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haplotype ,genetic association ,genotype ,General Physics and Astronomy ,Genome-wide association study ,genetic analysis ,gene sequence ,Biology ,gene frequency ,Polymorphism, Single Nucleotide ,General Biochemistry, Genetics and Molecular Biology ,Article ,polymorphism ,Gene Frequency ,single nucleotide polymorphism ,Humans ,chromosome ,human ,1000 Genomes Project ,indel mutation ,genome ,Alleles ,Genetic association ,Genetics ,Whole genome sequencing ,Multidisciplinary ,accuracy ,Genome, Human ,Haplotype ,allele ,article ,reference database ,General Chemistry ,Microarray Analysis ,chromosome 20 ,Haplotypes ,Human genome ,microarray analysis ,Imputation (genetics) ,Algorithms ,SNP array ,Genome-Wide Association Study - Abstract
A major use of the 1000 Genomes Project (1000GP) data is genotype imputation in genome-wide association studies (GWAS). Here we develop a method to estimate haplotypes from low-coverage sequencing data that can take advantage of single-nucleotide polymorphism (SNP) microarray genotypes on the same samples. First the SNP array data are phased to build a backbone (or 'scaffold') of haplotypes across each chromosome. We then phase the sequence data 'onto' this haplotype scaffold. This approach can take advantage of relatedness between sequenced and non-sequenced samples to improve accuracy. We use this method to create a new 1000GP haplotype reference set for use by the human genetic community. Using a set of validation genotypes at SNP and bi-allelic indels we show that these haplotypes have lower genotype discordance and improved imputation performance into downstream GWAS samples, especially at low-frequency variants. © 2014 Macmillan Publishers Limited. All rights reserved.
- Published
- 2014
32. Geographic population structure analysis of worldwide human populations infers their biogeographical origins
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Elhaik, E., Tatarinova, T., Chebotarev, D., Piras, I.S., Maria Calò, C., De Montis, A., Atzori, M., Marini, M., Tofanelli, S., Francalacci, P., Pagani, L., Tyler-Smith, C., Xue, Y., Cucca, F., Schurr, T.G., Gaieski, J.B., Melendez, C., Vilar, M.G., Owings, A.C., Gómez, R., Fujita, R., Santos, F.R., Comas, D., Balanovsky, O., Balanovska, E., Zalloua, P., Soodyall, H., Pitchappan, R., GaneshPrasad, A., Hammer, M., Matisoo-Smith, L., Wells, R.S., Acosta, O., Adhikarla, S., Adler, C.J., Bertranpetit, J., Clarke, A.C., Cooper, A., Der Sarkissian, C.S.I., Haak, W., Haber, M., Jin, L., Kaplan, M.E., Li, H., Li, S., Martínez-Cruz, B., Merchant, N.C., Mitchell, J.R., Parida, L., Platt, D.E., Quintana-Murci, L., Renfrew, C., Lacerda, D.R., Royyuru, A.K., Sandoval, J.R., Santhakumari, A.V., Soria Hernanz, D.F., Swamikrishnan, P., and Ziegle, J.S.
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Structure analysis ,Genetic genealogy ,Biogeography ,Sequencing data ,Genética de población ,General Physics and Astronomy ,Geographic population ,MED/03 Genetica medica ,Variación genética ,Biology ,Bioinformatics ,Polymorphism, Single Nucleotide ,General Biochemistry, Genetics and Molecular Biology ,Article ,Genètica de poblacions humanes ,Genetics ,Humans ,Características de la población ,576 - Genética y evolución ,Multidisciplinary ,business.industry ,Genome, Human ,BIO/18 Genetica ,General Chemistry ,Quarter (United States coin) ,Corrigenda ,Country of origin ,Europe ,Biological sciences ,Genetics, Population ,Global Positioning System ,Biogeografía ,Fitogeografía ,business ,Genètica humana -- Variació ,Cartography ,Pruebas genéticas ,Algorithms - Abstract
The search for a method that utilizes biological information to predict humans’ place of origin has occupied scientists for millennia. Over the past four decades, scientists have employed genetic data in an effort to achieve this goal but with limited success. While biogeographical algorithms using next-generation sequencing data have achieved an accuracy of 700 km in Europe, they were inaccurate elsewhere. Here we describe the Geographic Population Structure (GPS) algorithm and demonstrate its accuracy with three data sets using 40,000–130,000 SNPs. GPS placed 83% of worldwide individuals in their country of origin. Applied to over 200 Sardinians villagers, GPS placed a quarter of them in their villages and most of the rest within 50 km of their villages. GPS’s accuracy and power to infer the biogeography of worldwide individuals down to their country or, in some cases, village, of origin, underscores the promise of admixture-based methods for biogeography and has ramifications for genetic ancestry testing., Current methods to identify the geographical origin of humans based on DNA data present limited accuracy. Here, the authors develop a new algorithm, the Genographic Population Structure (GPS), and demonstrate its ability to place worldwide individuals within their country or, in some cases, village of origin.
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- 2014
33. Population and individual effects of non-coding variants inform genetic risk factors
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M., Pala, primary, Zappala, Z., additional, Marongiu, M., additional, Li, X., additional, Davis, J.R., additional, Cusano, R., additional, Crobu, F., additional, Kukurba, K.R., additional, Reiner, F., additional, Berutti, R., additional, Piras, M.G., additional, Mulas, A., additional, Zoledziewska, M., additional, Busonero, F., additional, Maschio, A., additional, Steri, M., additional, Sidore, C., additional, Sanna, S., additional, Fiorillo, E., additional, Battle, A., additional, Novembre, J., additional, Jones, C., additional, Angius, A., additional, Abecasis, G.R., additional, Schlessinger, D., additional, Cucca, F., additional, and Montgomery, S.B., additional
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- 2016
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34. No evidence of association between subclinical thyroid disorders and common carotid intima medial thickness or atherosclerotic plaque
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Delitala, A.P., primary, Filigheddu, F., additional, Orrù, M., additional, AlGhatrif, M., additional, Steri, M., additional, Pilia, M.G., additional, Scuteri, A., additional, Lobina, M., additional, Piras, M.G., additional, Delitala, G., additional, Lakatta, E.G., additional, Schlessinger, D., additional, and Cucca, F., additional
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- 2015
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35. The Molecular Genetic Architecture of Self-Employment
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van der Loos MJ, Rietveld CA, Eklund N, Koellinger PD, Rivadeneira F, Abecasis GR, Ankra-Badu GA, Baumeister SE, Benjamin DJ, Biffar R, Blankenberg S, Boomsma DI, Cesarini D, Cucca F, de Geus EJ, Hottenga JJ, Surakka I, Svento R, Terracciano A, Tikkanen E, van Duijn CM, Viikari J, Vxf6lzke H, Wichmann HE, Wild PS, Willems SM, Willemsen G, van Rooij FJ, Groenen PJ, Uitterlinden AG, Hofman A, and Thurik AR
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- 2013
36. The GenoChip: A New Tool for Genetic Anthropology
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Elhaik, E, Greenspan, E, Staats, S, Krahn, T, Tyler-Smith, C, Xue, Y, Tofanelli, S, Francalacci, P, Cucca, F, Pagani, Luca, Jin, L, Li, H, Schurr, Tg, Greenspan, B, Spencer Wells, R, Acosta, O, Adhikarla, S, Adler, Cj, Balanovska, E, Balanovsky, O, Bertranpetit, J, Clarke, Ac, Comas, D, Cooper, A, Dulik, Mc, Gaieski, Jb, Ganesh Prasad AK, Haak, W, Haber, M, Kaplan, Me, Lacerda, Dr, Li, S, Martinez-Cruz, B, Matisoo-Smith, Ea, Merchant, Nc, Mitchell, Jr, Owings, Ac, Parida, L, Pitchappan, R, Platt, De, Quintana-Murci, L, Renfrew, C, Royyuru, Ak, Sandoval, Jr, Santhakumari, Av, Santos, Fr, Der Sarkissian CSI, Soodyall, S, Soria Hernanz DF, Swamikrishnan, P, Vieira, Pp, Vilar, Mg, Zalloua, Pa, and Ziegle, Js
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Letter ,Anthropology ,Human Migration ,Population genetics ,Genética de población ,Ancestry-informative marker ,Human genetic variation ,MED/03 Genetica medica ,Genética humana ,DNA, Mitochondrial ,Polymorphism, Single Nucleotide ,Haplogroup ,genetic anthropology ,AimsFinder ,03 medical and health sciences ,0302 clinical medicine ,Genes, Y-Linked ,Human Genome Project ,Genetics ,Humans ,Quantitative Biology - Genomics ,Genographic Project ,Quantitative Biology - Populations and Evolution ,Genotyping ,Denisovan ,Antropologia ,Ecology, Evolution, Behavior and Systematics ,Anthropology, Cultural ,History, Ancient ,030304 developmental biology ,GenoChip ,Oligonucleotide Array Sequence Analysis ,Genomics (q-bio.GN) ,0303 health sciences ,Genètica humana ,Genètica de poblacions ,biology ,BIO/18 Genetica ,Populations and Evolution (q-bio.PE) ,population genetics ,Especiación genética ,biology.organism_classification ,FOS: Biological sciences ,haplogroups ,Haplotipos ,030217 neurology & neurosurgery ,Human mitochondrial DNA haplogroup - Abstract
The Genographic Project is an international effort using genetic data to chart human migratory history. The project is non-profit and non-medical, and through its Legacy Fund supports locally led efforts to preserve indigenous and traditional cultures. In its second phase, the project is focusing on markers from across the entire genome to obtain a more complete understanding of human genetic variation. Although many commercial arrays exist for genome-wide SNP genotyping, they were designed for medical genetic studies and contain medically related markers that are not appropriate for global population genetic studies. GenoChip, the Genographic Project's new genotyping array, was designed to resolve these issues and enable higher-resolution research into outstanding questions in genetic anthropology. We developed novel methods to identify AIMs and genomic regions that may be enriched with alleles shared with ancestral hominins. Overall, we collected and ascertained AIMs from over 450 populations. Containing an unprecedented number of Y-chromosomal and mtDNA SNPs and over 130,000 SNPs from the autosomes and X-chromosome, the chip was carefully vetted to avoid inclusion of medically relevant markers. The GenoChip results were successfully validated. To demonstrate its capabilities, we compared the FST distributions of GenoChip SNPs to those of two commercial arrays for three continental populations. While all arrays yielded similarly shaped (inverse J) FST distributions, the GenoChip autosomal and X-chromosomal distributions had the highest mean FST, attesting to its ability to discern subpopulations. The GenoChip is a dedicated genotyping platform for genetic anthropology and promises to be the most powerful tool available for assessing population structure and migration history., Comment: 11 pages, 5 Figures, 2 supplementary notes
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- 2013
37. Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease
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Sabater-Lleal, M., Huang, J., Chasman, D., Naitza, S., Dehghan, A., Johnson, A.D., Teumer, A., Reiner, A.P., Folkersen, L., Basu, S., Rudnicka, A.R., Trompet, S., Malarstig, A., Baumert, J., Bis, J.C., Guo, X.Q., Hottenga, J.J., Shin, S.Y., Lopez, L.M., Lahti, J., Tanaka, T., Yanek, L.R., Oudot-Mellakh, T., Wilson, J.F., Navarro, P., Huffman, J.E., Zemunik, T., Redline, S., Mehra, R., Pulanic, D., Rudan, I., Wright, A.F., Kolcic, I., Polasek, O., Wild, S.H., Campbell, H., Curb, J.D., Wallace, R., Liu, S.M., Eaton, C.B., Becker, D.M., Becker, L.C., Bandinelli, S., Raikkonen, K., Widen, E., Palotie, A., Fornage, M., Green, D., Gross, M., Davies, G., Harris, S.E., Liewald, D.C., Starr, J.M., Williams, F.M.K., Grant, P.J., Spector, T.D., Strawbridge, R.J., Silveira, A., Sennblad, B., Rivadeneira, F., Uitterlinden, A.G., Franco, O.H., Hofman, A., Dongen, J. van, Willemsen, G., Boomsma, D.I., Yao, J., Jenny, N.S., Haritunians, T., McKnight, B., Lumley, T., Taylor, K.D., Rotter, J.I., Psaty, B.M., Peters, A., Gieger, C., Illig, T., Grotevendt, A., Homuth, G., Volzke, H., Kocher, T., Goel, A., Franzosi, M.G., Seedorf, U., Clarke, R., Steri, M., Tarasov, K.V., Sanna, S., Schlessinger, D., Stott, D.J., Sattar, N., Buckley, B.M., Rumley, A., Lowe, G.D., McArdle, W.L., Chen, M.H., Tofler, G.H., Song, J., Boerwinkle, E., Folsom, A.R., Rose, L.M., Franco-Cereceda, A., Teichert, M., Ikram, M.A., Mosley, T.H., Bevan, S., Dichgans, M., Rothwell, P.M., Sudlow, C.L.M., Hopewell, J.C., Chambers, J.C., Saleheen, D., Kooner, J.S., Danesh, J., Nelson, C.P., Erdmann, J., Reilly, M.P., Kathiresan, S., Schunkert, H., Morange, P.E., Ferrucci, L., Eriksson, J.G., Jacobs, D., Deary, I.J., Soranzo, N., Witteman, J.C.M., Geus, E.J.C. de, Tracy, R.P., Hayward, C., Koenig, W., Cucca, F., Jukema, J.W., Eriksson, P., Seshadri, S., Markus, H.S., Watkins, H., Samani, N.J., Wallaschofski, H., Smith, N.L., Tregouet, D., Ridker, P.M., Tang, W.H., Strachan, D.P., Hamsten, A., O'Donnell, C.J., VTE Consortium, STROKE Consortium, WTCCC2, CD4 Consortium, CARDIoGRAM Consortium, Epidemiology, Cell biology, Urology, Internal Medicine, Immunology, Radiology & Nuclear Medicine, Biological Psychology, and EMGO+ - Lifestyle, Overweight and Diabetes
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Male ,Netherlands Twin Register (NTR) ,Pathology ,Myocardial Infarction ,Genome-wide association study ,Coronary Artery Disease ,Disease ,VARIANTS ,030204 cardiovascular system & hematology ,Fibrinogen ,Genome ,0302 clinical medicine ,Risk Factors ,Genotype ,ARTERY-DISEASE ,GENE-EXPRESSION ,Aged, 80 and over ,Genetics ,INDIVIDUAL PARTICIPANT METAANALYSIS ,0303 health sciences ,Hispanic or Latino ,Venous Thromboembolism ,Middle Aged ,3. Good health ,Stroke ,Meta-analysis ,Medical genetics ,Female ,HEALTH ,Cardiology and Cardiovascular Medicine ,medicine.drug ,Adult ,medicine.medical_specialty ,cardiovascular diseases ,fibrinogen ,gene expression ,genome-wide association study ,Adolescent ,Implementation Science [NCEBP 3] ,Black People ,Polymorphism, Single Nucleotide ,White People ,Young Adult ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Physiology (medical) ,medicine ,Humans ,CORONARY-HEART-DISEASE ,HEMOSTASIS ,Genetic Predisposition to Disease ,Aged ,030304 developmental biology ,business.industry ,Heritability ,GENOTYPES ,MYOCARDIAL-INFARCTION ,Genetic Loci ,RISK-FACTORS ,business - Abstract
Background— Estimates of the heritability of plasma fibrinogen concentration, an established predictor of cardiovascular disease, range from 34% to 50%. Genetic variants so far identified by genome-wide association studies explain only a small proportion ( Methods and Results— We conducted a meta-analysis of 28 genome-wide association studies including >90 000 subjects of European ancestry, the first genome-wide association meta-analysis of fibrinogen levels in 7 studies in blacks totaling 8289 samples, and a genome-wide association study in Hispanics totaling 1366 samples. Evaluation for association of single-nucleotide polymorphisms with clinical outcomes included a total of 40 695 cases and 85 582 controls for coronary artery disease, 4752 cases and 24 030 controls for stroke, and 3208 cases and 46 167 controls for venous thromboembolism. Overall, we identified 24 genome-wide significant ( P −8 ) independent signals in 23 loci, including 15 novel associations, together accounting for 3.7% of plasma fibrinogen variation. Gene-set enrichment analysis highlighted key roles in fibrinogen regulation for the 3 structural fibrinogen genes and pathways related to inflammation, adipocytokines, and thyrotrophin-releasing hormone signaling. Whereas lead single-nucleotide polymorphisms in a few loci were significantly associated with coronary artery disease, the combined effect of all 24 fibrinogen-associated lead single-nucleotide polymorphisms was not significant for coronary artery disease, stroke, or venous thromboembolism. Conclusions— We identify 23 robustly associated fibrinogen loci, 15 of which are new. Clinical outcome analysis of these loci does not support a causal relationship between circulating levels of fibrinogen and coronary artery disease, stroke, or venous thromboembolism.
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- 2013
38. Novel <italic>NALCN</italic> biallelic truncating mutations in siblings with IHPRF1 syndrome.
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Angius, A., Cossu, S., Uva, P., Oppo, M., Onano, S., Persico, I., Fotia, G., Atzeni, R., Cuccuru, G., Asunis, M., Cucca, F., Pruna, D., and Crisponi, L.
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MUSCLE hypotonia ,INTELLECTUAL disabilities - Published
- 2018
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39. An integrated map of genetic variation from 1,092 human genomes
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Altshuler, DM, Durbin, RM, Abecasis, GR, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, Marth, GT, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Dinh, H, Kovar, C, Lee, S, Lewis, L, Muzny, D, Reid, J, Wang, M, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Li, G, Li, J, Li, Y, Li, Z, Liu, X, Lu, Y, Ma, X, Su, Z, Tai, S, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Yin, Y, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Zhou, Y, Gupta, N, Clarke, L, Leinonen, R, Smith, RE, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, M-L, Fulton, L, Fulton, R, Weinstock, GM, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S, Stalker, J, Quail, M, Davies, CJ, Gollub, J, Webster, T, Wong, B, Zhan, Y, Auton, A, Yu, F, Bainbridge, M, Challis, D, Evani, US, Lu, J, Nagaswamy, U, Sabo, A, Wang, Y, Yu, J, Coin, LJM, Fang, L, Li, Q, Lin, H, Liu, B, Luo, R, Qin, N, Shao, H, Xie, Y, Ye, C, Yu, C, Zhang, F, Zheng, H, Zhu, H, Garrison, EP, Kural, D, Lee, W-P, Leong, WF, Ward, AN, Wu, J, Zhang, M, Griffin, L, Hsieh, C-H, Mills, RE, Shi, X, Von Grotthuss, M, Zhang, C, Daly, MJ, DePristo, MA, Banks, E, Bhatia, G, Carneiro, MO, Del Angel, G, Genovese, G, Handsaker, RE, Hartl, C, McCarroll, SA, Nemesh, JC, Poplin, RE, Schaffner, SF, Shakir, K, Yoon, SC, Lihm, J, Makarov, V, Jin, H, Kim, W, Kim, KC, Rausch, T, Beal, K, Cunningham, F, Herrero, J, McLaren, WM, Ritchie, GRS, Gottipati, S, Keinan, A, Rodriguez-Flores, JL, Sabeti, PC, Grossman, SR, Tabrizi, S, Tariyal, R, Cooper, DN, Ball, EV, Stenson, PD, Barnes, B, Bauer, M, Cheetham, RK, Cox, T, Eberle, M, Kahn, S, Murray, L, Peden, J, Shaw, R, Ye, K, Batzer, MA, Konkel, MK, Walker, JA, MacArthur, DG, Lek, M, Herwig, R, Shriver, MD, Bustamante, CD, Byrnes, JK, De la Vega, FM, Gravel, S, Kenny, EE, Kidd, JM, Lacroute, P, Maples, BK, Moreno-Estrada, A, Zakharia, F, Halperin, E, Baran, Y, Craig, DW, Christoforides, A, Homer, N, Izatt, T, Kurdoglu, AA, Sinari, SA, Squire, K, Xiao, C, Sebat, J, Bafna, V, Burchard, EG, Hernandez, RD, Gignoux, CR, Haussler, D, Katzman, SJ, Kent, WJ, Howie, B, Ruiz-Linares, A, Dermitzakis, ET, Lappalainen, T, Devine, SE, Maroo, A, Tallon, LJ, Rosenfeld, JA, Michelson, LP, Kang, HM, Anderson, P, Angius, A, Bigham, A, Blackwell, T, Busonero, F, Cucca, F, Fuchsberger, C, Jones, C, Jun, G, Lyons, R, Maschio, A, Porcu, E, Reinier, F, Sanna, S, Schlessinger, D, Sidore, C, Tan, A, Trost, MK, Awadalla, P, Hodgkinson, A, Lunter, G, Marchini, JL, Myers, S, Churchhouse, C, Delaneau, O, Gupta-Hinch, A, Iqbal, Z, Mathieson, I, Rimmer, A, Xifara, DK, Oleksyk, TK, Fu, Y, Xiong, M, Jorde, L, Witherspoon, D, Xing, J, Browning, BL, Alkan, C, Hajirasouliha, I, Hormozdiari, F, Ko, A, Sudmant, PH, Chen, K, Chinwalla, A, Ding, L, Dooling, D, Koboldt, DC, McLellan, MD, Wallis, JW, Wendl, MC, Zhang, Q, Tyler-Smith, C, Albers, CA, Ayub, Q, Chen, Y, Coffey, AJ, Colonna, V, Huang, N, Jostins, L, Li, H, Scally, A, Walter, K, Xue, Y, Zhang, Y, Gerstein, MB, Abyzov, A, Balasubramanian, S, Chen, J, Clarke, D, Habegger, L, Harmanci, AO, Jin, M, Khurana, E, Mu, XJ, Sisu, C, Degenhardt, J, Stuetz, AM, Church, D, Michaelson, JJ, Ben, B, Lindsay, SJ, Ning, Z, Frankish, A, Harrow, J, Fowler, G, Hale, W, Kalra, D, Barker, J, Kelman, G, Kulesha, E, Radhakrishnan, R, Roa, A, Smirnov, D, Streeter, I, Toneva, I, Vaughan, B, Ananiev, V, Belaia, Z, Beloslyudtsev, D, Bouk, N, Chen, C, Cohen, R, Cook, C, Garner, J, Hefferon, T, Kimelman, M, Liu, C, Lopez, J, Meric, P, O'Sullivan, C, Ostapchuk, Y, Phan, L, Ponomarov, S, Schneider, V, Shekhtman, E, Sirotkin, K, Slotta, D, Zhang, H, Barnes, KC, Beiswanger, C, Cai, H, Cao, H, Gharani, N, Henn, B, Jones, D, Kaye, JS, Kent, A, Kerasidou, A, Mathias, R, Ossorio, PN, Parker, M, Reich, D, Rotimi, CN, Royal, CD, Sandoval, K, Su, Y, Tian, Z, Tishkoff, S, Toji, LH, Via, M, Yang, H, Yang, L, Zhu, J, Bodmer, W, Bedoya, G, Ming, CZ, Yang, G, You, CJ, Peltonen, L, Garcia-Montero, A, Orfao, A, Dutil, J, Martinez-Cruzado, JC, Brooks, LD, Felsenfeld, AL, McEwen, JE, Clemm, NC, Duncanson, A, Dunn, M, Guyer, MS, Peterson, JL, 1000 Genomes Project Consortium, Dermitzakis, Emmanouil, Universitat de Barcelona, Massachusetts Institute of Technology. Department of Biology, Altshuler, David, and Lander, Eric S.
- Subjects
Natural selection ,LOCI ,Genome-wide association study ,Evolutionary biology ,Continental Population Groups/genetics ,Human genetic variation ,VARIANTS ,Genoma humà ,Binding Sites/genetics ,0302 clinical medicine ,RARE ,Sequence Deletion/genetics ,WIDE ASSOCIATION ,ddc:576.5 ,Copy-number variation ,MUTATION ,Exome sequencing ,transcription factor ,Conserved Sequence ,Human evolution ,Sequence Deletion ,Genetics ,RISK ,0303 health sciences ,Multidisciplinary ,Continental Population Groups ,1000 Genomes Project Consortium ,Genetic analysis ,Genomics ,Polymorphism, Single Nucleotide/genetics ,Research Highlight ,3. Good health ,Algorithm ,Multidisciplinary Sciences ,Genetic Variation/genetics ,Map ,Science & Technology - Other Topics ,Conserved Sequence/genetics ,Integrated approach ,General Science & Technology ,Genetics, Medical ,Haplotypes/genetics ,Biology ,Polymorphism, Single Nucleotide ,Evolution, Molecular ,03 medical and health sciences ,Genetic variation ,Humans ,Transcription Factors/metabolism ,POPULATION-STRUCTURE ,1000 Genomes Project ,Polymorphism ,Nucleotide Motifs ,Alleles ,030304 developmental biology ,COPY NUMBER VARIATION ,Science & Technology ,Binding Sites ,Human genome ,Genome, Human ,Racial Groups ,Genetic Variation ,Genetics, Population ,Haplotypes ,Genome, Human/genetics ,untranslated RNA ,030217 neurology & neurosurgery ,Transcription Factors ,Genome-Wide Association Study - Abstract
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations., National Institutes of Health (U.S.) (Grant RC2HL102925), National Institutes of Health (U.S.) (Grant U54HG3067)
- Published
- 2012
40. Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry
- Author
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Hunt, K.A., Smyth, D.J., Balschun, T., Ban, M., Mistry, V., Ahmad, T., Anand, V., Barrett, J.C., Bhaw-Rosun, L., Bockett, N.A., Brand, O.J., Brouwer, E., Concannon, P., Cooper, J.D., Dias, K.R.M., Diemen, C.C. van, Dubois, P.C., Edkins, S., Folster-Holst, R., Fransen, K., Glass, D.N., Heap, G.A.R., Hofmann, S., Huizinga, T.W.J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Marrosu, M.G., Mathew, C.G., Mein, C.A., Muller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N.J., Posthumus, M.D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M.J., Sudman, M., Thompson, S.D., Toes, R., Trynka, G., Vyse, T.J., Walker, N.M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S.S., Todd, J.A., Heel, D.A. van, Type 1 Diabet Genetics, UK Inflammatory Bowel Dis IBD, and Wellcome Trust Case
- Published
- 2012
41. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma
- Author
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Chambers, J.C., Zhang, W.H., Sehmi, J., Li, X.Z., Wass, M.N., Harst, P. van der, Holm, H., Sanna, S., Kavousi, M., Baumeister, S.E., Coin, L.J., Deng, G.H., Gieger, C., Heard-Costa, N.L., Hottenga, J.J., Kuhnel, B., Kumar, V., Lagou, V., Liang, L.M., Luan, J.A., Vidal, P.M., Leach, I.M., O'Reilly, P.F., Peden, J.F., Rahmioglu, N., Soininen, P., Speliotes, E.K., Yuan, X., Thorleifsson, G., Alizadeh, B.Z., Atwood, L.D., Borecki, I.B., Brown, M.J., Charoen, P., Cucca, F., D. das, Geus, E.J.C. de, Dixon, A.L., Doering, A., Ehret, G., Eyjolfsson, G.I., Farrall, M., Forouhi, N.G., Friedrich, N., Goessling, W., Gudbjartsson, D.F., Harris, T.B., Hartikainen, A.L., Heath, S., Hirschfield, G.M., Hofman, A., Homuth, G., Hypponen, E., Janssen, H.L.A., Johnson, T., Kangas, A.J., Kema, I.P., Kuhn, J.P., Lai, S., Lathrop, M., Lerch, M.M., Li, Y., Liang, T.J., Lin, J.P., Loos, R.J.F., Martin, N.G., Moffatt, M.F., Montgomery, G.W., Munroe, P.B., Musunuru, K., Nakamura, Y., O'Donnell, C.J., Olafsson, I., Penninx, B.W., Pouta, A., Prins, B.P., Prokopenko, I., Puls, R., Ruokonen, A., Savolainen, M.J., Schlessinger, D., Schouten, J.N.L., Seedorf, U., Sen-Chowdhry, S., Siminovitch, K.A., Smit, J.H., Spector, T.D., Tan, W.T., Teslovich, T.M., Tukiainen, T., Uitterlinden, A.G., Klauw, M.M. van der, Vasan, R.S., Wallace, C., Wallaschofski, H., Wichmann, H.E., Willemsen, G., Wurtz, P., Xu, C., Yerges-Armstrong, L.M., Abecasis, G.R., Ahmadi, K.R., Boomsma, D.I., Caulfield, M., Cookson, W.O., Duijn, C.M. van, Froguel, P., Matsuda, K., McCarthy, M.I., Meisinger, C., Mooser, V., Pietilainen, K.H., Schumann, G., Snieder, H., Sternberg, M.J.E., Stolk, R.P., Thomas, H.C., Thorsteinsdottir, U., Uda, M., Waeber, G., Wareham, N.J., Waterworth, D.M., Watkins, H., Whitfield, J.B., Witteman, J.C.M., Wolffenbuttel, B.H.R., Fox, C.S., Ala-Korpela, M., Stefansson, K., Vollenweider, P., Volzke, H., Schadt, E.E., Scott, J., Jarvelin, M.R., Elliott, P., Kooner, J.S., Alcohol Genome-wide Assoc AlcGen, Diabet Genetics Replication, Genetic Invest Anthropometric, Global Lipids Genetics Consortium, Genetics Liver Dis GOLD Consortium, Int Consortium Blood Pressure ICBP, and Meta-Anal Glucose Insulin-Related
- Published
- 2011
42. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma
- Author
-
Chambers, JC, Zhang, W, Sehmi, J, Li, X, Wass, MN, Van der Harst, P, Holm, H, Sanna, S, Kavousi, M, Baumeister, SE, Coin, LJ, Deng, G, Gieger, C, Heard-Costa, NL, Hottenga, J-J, Kühnel, B, Kumar, V, Lagou, V, Liang, L, Luan, J, Vidal, PM, Leach, IM, O'Reilly, PF, Peden, JF, Rahmioglu, N, Soininen, P, Speliotes, EK, Yuan, X, Thorleifsson, G, Alizadeh, BZ, Atwood, LD, Borecki, IB, Brown, MJ, Charoen, P, Cucca, F, Das, D, de Geus, EJC, Dixon, AL, Döring, A, Ehret, G, Eyjolfsson, GI, Farrall, M, Forouhi, NG, Friedrich, N, Goessling, W, Gudbjartsson, DF, Harris, TB, Hartikainen, A-L, Heath, S, Hirschfield, GM, Hofman, A, Homuth, G, Hyppönen, E, Janssen, HLA, Johnson, T, Kangas, AJ, Kema, IP, Kühn, JP, Lai, S, Lathrop, M, Lerch, MM, Li, Y, Liang, TJ, Lin, J-P, Loos, RJF, Martin, NG, Moffatt, MF, Montgomery, GW, Munroe, PB, Musunuru, K, Nakamura, Y, O'Donnell, CJ, Olafsson, I, Penninx, BW, Pouta, A, Prins, BP, Prokopenko, I, Puls, R, Ruokonen, A, Savolainen, MJ, Schlessinger, D, Schouten, JNL, Seedorf, U, Sen-Chowdhry, S, Siminovitch, KA, Smit, JH, Spector, TD, Tan, W, Teslovich, TM, Tukiainen, T, Uitterlinden, AG, Van der Klauw, MM, Vasan, RS, Wallace, C, Wallaschofski, H, Wichmann, H-E, Willemsen, G, Würtz, P, Xu, C, Yerges-Armstrong, LM, Abecasis, GR, Ahmadi, KR, Boomsma, DI, Caulfield, M, Cookson, WO, van Duijn, CM, Froguel, P, Matsuda, K, McCarthy, MI, Meisinger, C, Mooser, V, Pietiläinen, KH, Schumann, G, Snieder, H, Sternberg, MJE, Stolk, RP, Thomas, HC, Thorsteinsdottir, U, Uda, M, Waeber, G, Wareham, NJ, Waterworth, DM, Watkins, H, Whitfield, JB, Witteman, JCM, Wolffenbuttel, BHR, Fox, CS, Ala-Korpela, M, Stefansson, K, Vollenweider, P, Völzke, H, Schadt, EE, Scott, J, Järvelin, M-R, Elliott, P, and Kooner, JS
- Published
- 2011
43. Number of autoantibodies and HLA genotype, more than high titers of glutamic acid decarboxylase autoantibodies (GAD65Ab), predict insulin-dependence in Latent Autoimmune Diabetes of Adults (LADA)
- Author
-
Maioli, M., Pes, G. M., Delitala, G., Puddu, L., Falorni, Alberto, Tolu, F., Lampis, R., Orru, V., Secchi, G., Cicalò, A. M., Floris, R., Madau, G. F., Pilosu, R. M., Whalen, M., and Cucca, F.
- Published
- 2010
44. Genetic analysis of chromosome 2 in type 1 diabetes. Analysis of putative loci IDDM7, IDDM12 and IDDM13 and candidate genes NRAMP1 and IA-2 and the inteleukin-1 gene cluster
- Author
-
Esposito L, Hill NJ, Pritchard LE, Cucca F, Muxworthy C, Merriman ME, Wilson A, Julier C, Delepine M, Tuomilehto J, Tuomilehto Wolf E, Ionesco Tirgoviste C, Nisticò L, IMDIAB Group, Buzzetti R, Pozzilli P, FERRARI, MAURIZIO, Pociot F, Nerup J, Bain SC, Todd JA, BOSI , EMANUELE, Esposito, L, Hill, Nj, Pritchard, Le, Cucca, F, Muxworthy, C, Merriman, Me, Wilson, A, Julier, C, Delepine, M, Tuomilehto, J, Tuomilehto Wolf, E, Ionesco Tirgoviste, C, Nisticò, L, Imdiab, Group, Buzzetti, R, Pozzilli, P, Ferrari, Maurizio, Bosi, Emanuele, Pociot, F, Nerup, J, Bain, Sc, and Todd, Ja
- Published
- 1998
45. Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal allele
- Author
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Bennet ST, Wilson AJ, Esposito L, Bouzekri N, Undlien DE, Cucca F, Nisticò L, Buzzetti R, IMDIAB Group, Pociot F, Nerup J, Cambon Thomsen A, Pugliese A, Shield JPH, McKinney PA, Bain SC, Polychronakos C, Todd JA, BOSI , EMANUELE, Bennet, St, Wilson, Aj, Esposito, L, Bouzekri, N, Undlien, De, Cucca, F, Nisticò, L, Buzzetti, R, Imdiab, Group, Bosi, Emanuele, Pociot, F, Nerup, J, Cambon Thomsen, A, Pugliese, A, Shield, Jph, Mckinney, Pa, Bain, Sc, Polychronakos, C, and Todd, Ja
- Published
- 1997
46. Aspetti attuali del Diabete Mellito 2002
- Author
-
Manai, M., Avogaro, A., Ballore, A., Bolli, Geremia Brunetto, Bonato, V., Brunetti, Paolo, Bruno, G., Calafiore, Riccardo, Campi, F., Carbini, L., Cerchi, A., Contini, P., Contini, V., Cordoni, M., Corgiolu, L., Cucca, F., Del Prato, S., Del Zompo, M., Di Mario, U., Dotta, F., Fossarello, M., Frigau, G., Giorgino, R., Ledda, A., Maioli, M., Manai, A., MASSI BENEDETTI, Massimo, Melis, G., Meloncelli, I., Mulas, P., Orsini Federici, M., Pannacciuli, N., Paoletti, A., Perriello, G., Pilia, I., Pilosu, R., Piras, V., Pisano, G., Pittau, A., Pittau, R., Porru, S., Quattrini, C., Realdi, G., Rivetti, M., Santeusanio, Fausto, Scionti, Luciano, Serra, A., Seu, G., Sondini, M., Spanu, F., Tedde, R., Tiengo, A., Tomolo, G., Vespasiani, G., and Zucca, I.
- Subjects
aspetti attuali del diabete mellito 2002 - Published
- 2002
47. Parent-of-origin effect of HLA genes in Sardinian multiple sclerosis
- Author
-
Marrosu, Mg, Murru, R, Lai, M, Murru, Mr, Costa, G, Cocco, E, Sotgiu, S, Pugliatti, Maura, and Cucca, F.
- Published
- 1999
48. Genetic analysis of chromosome 2 in type 1 dibetes: analyis of putative loci IDDM7,IDDM12, and IDDM13 and candidate genes NRAMP1 and IA-2 and intreleukin-1 gene cluster.IMDIAB Group
- Author
-
Esposito, L, Hill, Nj, Prichard, Le, Cucca, F, Muxworthy, C, Merriman, Me, Wilson, A, Julier, C, Delepine, M, Tuomilehto, J, TUOMILEHTO WOLF, E, Buzzetti, Raffaella, Joner, G, Thorsby, E, Undlien, De, Pociot, F, Nerup, J, Ronningen, Ks, and Todd, Ja
- Published
- 1998
49. Inheritance of susceptible HLA-DRB-DQA-DQB haplotypes in Sardinian multiple sclerosis
- Author
-
Marrosu, Mg, Murru, R, Lai, M, Murru, Mr, Costa, G, Sotgiu, S, Pugliatti, Maura, and Cucca, F.
- Published
- 1998
50. Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal allele. The IMDIAB Group
- Author
-
Bennett, S. T., Wilson, A. J., Esposito, L., Bouzekri, N., Undlien, D. E., Cucca, F., Nistico, L., Buzzetti, Raffaella, Bosi, E., Pociot, F., Nerup, J., Cambon Thomsen, A., Pugliese, A., Shield, J. P., Mckinney, P. A., Bain, S. C., Polychronakos, C., Todd, J. A., Suraci, C., Cavallo, Maria Gisella, and Suppa, M.
- Subjects
Male ,Diabetes Mellitus, Type 1 ,Genetics, Population ,Case-Control Studies ,Homozygote ,Genetic Variation ,Humans ,Insulin ,Female ,Alleles - Abstract
The IDDM2 type 1 diabetes susceptibility locus was mapped to and identified as allelic variation at the insulin gene (INS) VNTR regulatory polymorphism. In Caucasians, INS VNTR alleles divide into two discrete size classes. Class I alleles (26 to 63 repeats) predispose in a recessive way to type 1 diabetes, while class III alleles (140 to more than 200 repeats) are dominantly protective. The protective effect may be explained by higher levels of class III VNTR-associated INS mRNA in thymus such that elevated levels of preproinsulin protein enhance immune tolerance to preproinsulin, a key autoantigen in type 1 diabetes pathogenesis. The mode of action of IDDM2 is complicated, however, by parent-of-origin effects and possible allelic heterogeneity within the two defined allele classes. We have now analysed transmission of specific VNTR alleles in 1,316 families and demonstrate that a particular class I allele does not predispose to disease when paternally inherited, suggestive of polymorphic imprinting. But this paternal effect is observed only when the father's untransmitted allele is a class III. This allelic interaction is reminiscent of epigenetic phenomena observed in plants (for example, paramutation; ref. 17) and in yeast (for example, trans-inactivation; ref. 18). If untransmitted chromosomes can have functional effects on the biological properties of transmitted chromosomes, the implications for human genetics and disease are potentially considerable.
- Published
- 1997
Catalog
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