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201. Assessment of numerical methods for estimating the wall shear stress in turbulent Herschel–Bulkley slurries in circular pipes

Author

Mehta, D. (author), Thota Radhakrishnan, A.K. (author), van Lier, J.B. (author), Clemens, F.H.L.R. (author), Mehta, D. (author), Thota Radhakrishnan, A.K. (author), van Lier, J.B. (author), and Clemens, F.H.L.R. (author)

Abstract

This article concerns the turbulent flow of Herschel–Bulkley slurries through circular horizontal pipes; in particular, that of concentrated domestic slurry obtained upon separation of domestic waste water and reduction in the use of water for domestic purposes. Experiments with a rheologically equivalent clay (kaolin) slurry indicated a non-Newtonian behaviour of the Herschel–Bulkley type. A modified wall function was developed to enable the Reynolds-averaged Navier–Stokes simulation of Herschel–Bulkley slurries to estimate the wall shear stress. Despite the accuracy achieved, the use of Reynolds-averaged Navier–Stokes models for an entire waste water system is impractical. Therefore, this article assesses the accuracy of semi-empirical models in estimating frictional losses. It also discusses possible modifications of existing models to encompass Herschel–Bulkley behaviour. An evaluation suggests that most existing models deliver estimates of comparable accuracy; however, the probability of these estimates being reliable, while accounting for experimental errors in quantifying the actual frictional losses, is rather low., Sanitary Engineering

Published
2020
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202. Classical Human Leukocyte Antigen Alleles and C4 Haplotypes Are Not Significantly Associated With Depression

Author

Glanville, KP, Coleman, JR, Hanscombe, KB, Euesden, J, Choi, SW, Purves, KL, Breen, G, Air, TM, Andlauer, TFM, Baune, BT, Binder, EB, Blackwood, DHR, Boomsma, D, Buttenschon, HN, Colodro-Conde, L, Dannlowski, U, Direk, N, Dunn, EC, Forstner, AJ, de Geus, EJC, Grabe, HJ, Hamilton, SP, Jones, I, Jones, LA, Knowles, JA, Kutalik, Z, Levinson, DF, Lewis, G, Lind, PA, Lucae, S, Magnusson, PK, McGuffin, P, McIntosh, AM, Milaneschi, Y, Mors, O, Mostafavi, S, Mueller-Myhsok, B, Pedersen, NL, Penninx, BWJH, Potash, JB, Preisig, M, Ripke, S, Shi, J, Shyn, S, Smoller, JW, Streit, F, Sullivan, PF, Tiemeier, H, Uher, R, Van der Auwera, S, Weissman, MM, O'Reilly, PF, Lewis, CM, Wray, NR, Mattheisen, M, Trzaskowski, M, Byrne, EM, Abdellaoui, A, Adams, MJ, Agerbo, E, Bacanu, S-A, Baekvad-Hansen, M, Beekman, ATF, Bigdeli, TB, Bryois, J, Bybjerg-Grauholm, J, Cai, N, Castelao, E, Christensen, JH, Clarke, T-K, Couvy-Duchesne, B, Craddock, N, Crawford, GE, Davies, G, Deary, IJ, Degenhardt, F, Derks, EM, Dolan, C, Eley, TC, Escott-Price, V, Kiadeh, FFH, Finucane, HK, Foo, JC, Frank, J, Gaspar, HA, Gill, M, Goes, FS, Gordon, SD, Grove, J, Hall, LS, Hansen, CS, Hansen, TF, Herms, S, Hickie, IB, Hoffmann, P, Homuth, G, Horn, C, Hottenga, J-J, Hougaard, DM, Howard, DM, Ising, M, Jansen, R, Jorgenson, E, Kohane, IS, Kraft, J, Kretzschmar, WW, Li, Y, MacIntyre, DJ, MacKinnon, DF, Maier, RM, Maier, W, Marchini, J, Mbarek, H, McGrath, P, Medland, SE, Mehta, D, Middeldorp, CM, Mihailov, E, Milani, L, Mondimore, FM, Montgomery, GW, Mullins, N, Nauck, M, Ng, B, Nivard, MG, Nyholt, DR, Oskarsson, H, Owen, MJ, Painter, JN, Pedersen, CB, Pedersen, MG, Peterson, RE, Pettersson, E, Peyrot, WJ, Pistis, G, Posthuma, D, Quiroz, JA, Qvist, P, Rice, JP, Riley, BP, Rivera, M, Mirza, SS, Schoevers, R, Schulte, EC, Shen, L, Sigurdsson, E, Sinnamon, GCB, Smit, JH, Smith, DJ, Stefansson, H, Steinberg, S, Strohmaier, J, Tansey, KE, Teismann, H, Teumer, A, Thompson, W, Thomson, PA, Thorgeirsson, TE, Traylor, M, Treutlein, J, Trubetskoy, V, Uitterlinden, AG, Umbricht, D, van Hemert, AM, Viktorin, A, Visscher, PM, Wang, Y, Webb, BT, Weinsheimer, SM, Wellmann, J, Willemsen, G, Witt, SH, Wu, Y, Xi, HS, Yang, J, Zhang, F, Arolt, V, Berger, K, Cichon, S, DePaulo, JR, Domenici, E, Domschke, K, Esko, T, Hayward, C, Heath, AC, Kendler, KS, Kloiber, S, Li, QS, Madden, PAF, Martin, NG, Metspalu, A, Mortensen, PB, Nordentoft, M, Noethen, MM, O'Donovan, MC, Paciga, SA, Perlis, RH, Porteous, DJ, Rietschel, M, Schaefer, C, Schulze, TG, Stefansson, K, Voelzke, H, Werge, T, Borglum, AD, Glanville, KP, Coleman, JR, Hanscombe, KB, Euesden, J, Choi, SW, Purves, KL, Breen, G, Air, TM, Andlauer, TFM, Baune, BT, Binder, EB, Blackwood, DHR, Boomsma, D, Buttenschon, HN, Colodro-Conde, L, Dannlowski, U, Direk, N, Dunn, EC, Forstner, AJ, de Geus, EJC, Grabe, HJ, Hamilton, SP, Jones, I, Jones, LA, Knowles, JA, Kutalik, Z, Levinson, DF, Lewis, G, Lind, PA, Lucae, S, Magnusson, PK, McGuffin, P, McIntosh, AM, Milaneschi, Y, Mors, O, Mostafavi, S, Mueller-Myhsok, B, Pedersen, NL, Penninx, BWJH, Potash, JB, Preisig, M, Ripke, S, Shi, J, Shyn, S, Smoller, JW, Streit, F, Sullivan, PF, Tiemeier, H, Uher, R, Van der Auwera, S, Weissman, MM, O'Reilly, PF, Lewis, CM, Wray, NR, Mattheisen, M, Trzaskowski, M, Byrne, EM, Abdellaoui, A, Adams, MJ, Agerbo, E, Bacanu, S-A, Baekvad-Hansen, M, Beekman, ATF, Bigdeli, TB, Bryois, J, Bybjerg-Grauholm, J, Cai, N, Castelao, E, Christensen, JH, Clarke, T-K, Couvy-Duchesne, B, Craddock, N, Crawford, GE, Davies, G, Deary, IJ, Degenhardt, F, Derks, EM, Dolan, C, Eley, TC, Escott-Price, V, Kiadeh, FFH, Finucane, HK, Foo, JC, Frank, J, Gaspar, HA, Gill, M, Goes, FS, Gordon, SD, Grove, J, Hall, LS, Hansen, CS, Hansen, TF, Herms, S, Hickie, IB, Hoffmann, P, Homuth, G, Horn, C, Hottenga, J-J, Hougaard, DM, Howard, DM, Ising, M, Jansen, R, Jorgenson, E, Kohane, IS, Kraft, J, Kretzschmar, WW, Li, Y, MacIntyre, DJ, MacKinnon, DF, Maier, RM, Maier, W, Marchini, J, Mbarek, H, McGrath, P, Medland, SE, Mehta, D, Middeldorp, CM, Mihailov, E, Milani, L, Mondimore, FM, Montgomery, GW, Mullins, N, Nauck, M, Ng, B, Nivard, MG, Nyholt, DR, Oskarsson, H, Owen, MJ, Painter, JN, Pedersen, CB, Pedersen, MG, Peterson, RE, Pettersson, E, Peyrot, WJ, Pistis, G, Posthuma, D, Quiroz, JA, Qvist, P, Rice, JP, Riley, BP, Rivera, M, Mirza, SS, Schoevers, R, Schulte, EC, Shen, L, Sigurdsson, E, Sinnamon, GCB, Smit, JH, Smith, DJ, Stefansson, H, Steinberg, S, Strohmaier, J, Tansey, KE, Teismann, H, Teumer, A, Thompson, W, Thomson, PA, Thorgeirsson, TE, Traylor, M, Treutlein, J, Trubetskoy, V, Uitterlinden, AG, Umbricht, D, van Hemert, AM, Viktorin, A, Visscher, PM, Wang, Y, Webb, BT, Weinsheimer, SM, Wellmann, J, Willemsen, G, Witt, SH, Wu, Y, Xi, HS, Yang, J, Zhang, F, Arolt, V, Berger, K, Cichon, S, DePaulo, JR, Domenici, E, Domschke, K, Esko, T, Hayward, C, Heath, AC, Kendler, KS, Kloiber, S, Li, QS, Madden, PAF, Martin, NG, Metspalu, A, Mortensen, PB, Nordentoft, M, Noethen, MM, O'Donovan, MC, Paciga, SA, Perlis, RH, Porteous, DJ, Rietschel, M, Schaefer, C, Schulze, TG, Stefansson, K, Voelzke, H, Werge, T, and Borglum, AD

Abstract

BACKGROUND: The prevalence of depression is higher in individuals with autoimmune diseases, but the mechanisms underlying the observed comorbidities are unknown. Shared genetic etiology is a plausible explanation for the overlap, and in this study we tested whether genetic variation in the major histocompatibility complex (MHC), which is associated with risk for autoimmune diseases, is also associated with risk for depression. METHODS: We fine-mapped the classical MHC (chr6: 29.6-33.1 Mb), imputing 216 human leukocyte antigen (HLA) alleles and 4 complement component 4 (C4) haplotypes in studies from the Psychiatric Genomics Consortium Major Depressive Disorder Working Group and the UK Biobank. The total sample size was 45,149 depression cases and 86,698 controls. We tested for association between depression status and imputed MHC variants, applying both a region-wide significance threshold (3.9 × 10-6) and a candidate threshold (1.6 × 10-4). RESULTS: No HLA alleles or C4 haplotypes were associated with depression at the region-wide threshold. HLA-B*08:01 was associated with modest protection for depression at the candidate threshold for testing in HLA genes in the meta-analysis (odds ratio = 0.98, 95% confidence interval = 0.97-0.99). CONCLUSIONS: We found no evidence that an increased risk for depression was conferred by HLA alleles, which play a major role in the genetic susceptibility to autoimmune diseases, or C4 haplotypes, which are strongly associated with schizophrenia. These results suggest that any HLA or C4 variants associated with depression either are rare or have very modest effect sizes.

Published
2020

203. Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank

Author

Coleman, JRI, Peyrot, WJ, Purves, KL, Davis, KAS, Rayner, C, Choi, SW, Hubel, C, Gaspar, HA, Kan, C, Van der Auwera, S, Adams, MJ, Lyall, DM, Choi, KW, Dunn, EC, Vassos, E, Danese, A, Maughan, B, Grabe, HJ, Lewis, CM, O'Reilly, PF, McIntosh, AM, Smith, DJ, Wray, NR, Hotopf, M, Eley, TC, Breen, G, Ripke, S, Mattheisen, M, Trzaskowski, M, Byrne, EM, Abdellaoui, A, Agerbo, E, Air, TM, Andlauer, TFM, Bacanu, S-A, Baekvad-Hansen, M, Beekman, ATF, Bigdeli, TB, Binder, EB, Bryois, J, Buttenschon, HN, Bybjerg-Grauholm, J, Cai, N, Castelao, E, Christensen, JH, Clarke, T-K, Colodro-Conde, L, Couvy-Duchesne, B, Craddock, N, Crawford, GE, Davies, G, Deary, IJ, Degenhardt, F, Derks, EM, Direk, N, Dolan, CV, Escott-Price, V, Kiadeh, FFH, Finucane, HK, Foo, JC, Forstner, AJ, Frank, J, Gill, M, Goes, FS, Gordon, SD, Grove, J, Hall, LS, Hansen, CS, Hansen, TF, Herms, S, Hickie, IB, Hoffmann, P, Homuth, G, Horn, C, Hottenga, J-J, Hougaard, DM, Howard, DM, Ising, M, Jansen, R, Jones, I, Jones, LA, Jorgenson, E, Knowles, JA, Kohane, IS, Kraft, J, Kretzschmar, WW, Kutalik, Z, Li, Y, Lind, PA, MacIntyre, DJ, MacKinnon, DF, Maier, RM, Maier, W, Marchini, J, Mbarek, H, McGrath, P, McGuffin, P, Medland, SE, Mehta, D, Middeldorp, CM, Mihailov, E, Milaneschi, Y, Milani, L, Mondimore, FM, Montgomery, GW, Mostafavi, S, Mullins, N, Nauck, M, Ng, B, Nivard, MG, Nyholt, DR, Oskarsson, H, Owen, MJ, Painter, JN, Pedersen, CB, Pedersen, MG, Peterson, RE, Pettersson, E, Pistis, G, Posthuma, D, Quiroz, JA, Qvist, P, Rice, JP, Riley, BP, Rivera, M, Mirza, SS, Schoevers, R, Schulte, EC, Shen, L, Shi, J, Shyn, SI, Sigurdsson, E, Sinnamon, GCB, Smit, JH, Stefansson, H, Steinberg, S, Streit, F, Strohmaier, J, Tansey, KE, Teismann, H, Teumer, A, Thompson, W, Thomson, PA, Thorgeirsson, TE, Traylor, M, Treutlein, J, Trubetskoy, V, Uitterlinden, AG, Umbricht, D, van Hemert, AM, Viktorin, A, Visscher, PM, Wang, Y, Webb, BT, Weinsheimer, SM, Wellmann, J, Willemsen, G, Witt, SH, Wu, Y, Xi, HS, Yang, J, Zhang, F, Arolt, V, Baune, BT, Berger, K, Boomsma, DI, Cichon, S, Dannlowski, U, de Geus, EJC, DePaulo, JR, Domenici, E, Domschke, K, Esko, T, Hamilton, SP, Hayward, C, Heath, AC, Kendler, KS, Kloiber, S, Lewis, G, Li, QS, Lucae, S, Madden, PAF, Magnusson, PK, Martin, NG, Metspalu, A, Mors, O, Mortensen, PB, Mueller-Myhsok, B, Nordentoft, M, Noethen, MM, O'Donovan, MC, Paciga, SA, Pedersen, NL, Penninx, BWJH, Perlis, RH, Porteous, DJ, Potash, JB, Preisig, M, Rietschel, M, Schaefer, C, Schulze, TG, Smoller, JW, Stefansson, K, Tiemeier, H, Uher, R, Volzke, H, Weissman, MM, Werge, T, Levinson, DF, Borglum, AD, Sullivan, PF, Coleman, JRI, Peyrot, WJ, Purves, KL, Davis, KAS, Rayner, C, Choi, SW, Hubel, C, Gaspar, HA, Kan, C, Van der Auwera, S, Adams, MJ, Lyall, DM, Choi, KW, Dunn, EC, Vassos, E, Danese, A, Maughan, B, Grabe, HJ, Lewis, CM, O'Reilly, PF, McIntosh, AM, Smith, DJ, Wray, NR, Hotopf, M, Eley, TC, Breen, G, Ripke, S, Mattheisen, M, Trzaskowski, M, Byrne, EM, Abdellaoui, A, Agerbo, E, Air, TM, Andlauer, TFM, Bacanu, S-A, Baekvad-Hansen, M, Beekman, ATF, Bigdeli, TB, Binder, EB, Bryois, J, Buttenschon, HN, Bybjerg-Grauholm, J, Cai, N, Castelao, E, Christensen, JH, Clarke, T-K, Colodro-Conde, L, Couvy-Duchesne, B, Craddock, N, Crawford, GE, Davies, G, Deary, IJ, Degenhardt, F, Derks, EM, Direk, N, Dolan, CV, Escott-Price, V, Kiadeh, FFH, Finucane, HK, Foo, JC, Forstner, AJ, Frank, J, Gill, M, Goes, FS, Gordon, SD, Grove, J, Hall, LS, Hansen, CS, Hansen, TF, Herms, S, Hickie, IB, Hoffmann, P, Homuth, G, Horn, C, Hottenga, J-J, Hougaard, DM, Howard, DM, Ising, M, Jansen, R, Jones, I, Jones, LA, Jorgenson, E, Knowles, JA, Kohane, IS, Kraft, J, Kretzschmar, WW, Kutalik, Z, Li, Y, Lind, PA, MacIntyre, DJ, MacKinnon, DF, Maier, RM, Maier, W, Marchini, J, Mbarek, H, McGrath, P, McGuffin, P, Medland, SE, Mehta, D, Middeldorp, CM, Mihailov, E, Milaneschi, Y, Milani, L, Mondimore, FM, Montgomery, GW, Mostafavi, S, Mullins, N, Nauck, M, Ng, B, Nivard, MG, Nyholt, DR, Oskarsson, H, Owen, MJ, Painter, JN, Pedersen, CB, Pedersen, MG, Peterson, RE, Pettersson, E, Pistis, G, Posthuma, D, Quiroz, JA, Qvist, P, Rice, JP, Riley, BP, Rivera, M, Mirza, SS, Schoevers, R, Schulte, EC, Shen, L, Shi, J, Shyn, SI, Sigurdsson, E, Sinnamon, GCB, Smit, JH, Stefansson, H, Steinberg, S, Streit, F, Strohmaier, J, Tansey, KE, Teismann, H, Teumer, A, Thompson, W, Thomson, PA, Thorgeirsson, TE, Traylor, M, Treutlein, J, Trubetskoy, V, Uitterlinden, AG, Umbricht, D, van Hemert, AM, Viktorin, A, Visscher, PM, Wang, Y, Webb, BT, Weinsheimer, SM, Wellmann, J, Willemsen, G, Witt, SH, Wu, Y, Xi, HS, Yang, J, Zhang, F, Arolt, V, Baune, BT, Berger, K, Boomsma, DI, Cichon, S, Dannlowski, U, de Geus, EJC, DePaulo, JR, Domenici, E, Domschke, K, Esko, T, Hamilton, SP, Hayward, C, Heath, AC, Kendler, KS, Kloiber, S, Lewis, G, Li, QS, Lucae, S, Madden, PAF, Magnusson, PK, Martin, NG, Metspalu, A, Mors, O, Mortensen, PB, Mueller-Myhsok, B, Nordentoft, M, Noethen, MM, O'Donovan, MC, Paciga, SA, Pedersen, NL, Penninx, BWJH, Perlis, RH, Porteous, DJ, Potash, JB, Preisig, M, Rietschel, M, Schaefer, C, Schulze, TG, Smoller, JW, Stefansson, K, Tiemeier, H, Uher, R, Volzke, H, Weissman, MM, Werge, T, Levinson, DF, Borglum, AD, and Sullivan, PF

Abstract

Depression is more frequent among individuals exposed to traumatic events. Both trauma exposure and depression are heritable. However, the relationship between these traits, including the role of genetic risk factors, is complex and poorly understood. When modelling trauma exposure as an environmental influence on depression, both gene-environment correlations and gene-environment interactions have been observed. The UK Biobank concurrently assessed Major Depressive Disorder (MDD) and self-reported lifetime exposure to traumatic events in 126,522 genotyped individuals of European ancestry. We contrasted genetic influences on MDD stratified by reported trauma exposure (final sample size range: 24,094-92,957). The SNP-based heritability of MDD with reported trauma exposure (24%) was greater than MDD without reported trauma exposure (12%). Simulations showed that this is not confounded by the strong, positive genetic correlation observed between MDD and reported trauma exposure. We also observed that the genetic correlation between MDD and waist circumference was only significant in individuals reporting trauma exposure (rg = 0.24, p = 1.8 × 10-7 versus rg = -0.05, p = 0.39 in individuals not reporting trauma exposure, difference p = 2.3 × 10-4). Our results suggest that the genetic contribution to MDD is greater when reported trauma is present, and that a complex relationship exists between reported trauma exposure, body composition, and MDD.

Published
2020

204. The global, regional, and national burden of cirrhosis by cause in 195 countries and territories, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017

Author

Sepanlou, SG, Safiri, S, Bisignano, C, Ikuta, KS, Merat, S, Saberifiroozi, M, Poustchi, H, Tsoi, D, Colombara, DV, Abdoli, A, Adedoyin, RA, Afarideh, M, Agrawal, S, Ahmad, S, Ahmadian, E, Ahmadpour, E, Akinyemiju, T, Akunna, CJ, Alipour, V, Almasi-Hashiani, A, Almulhim, AM, Al-Raddadi, RM, Alvis-Guzman, N, Anber, NH, Angus, C, Anoushiravani, A, Arabloo, J, Araya, EM, Asmelash, D, Ataeinia, B, Ataro, Z, Atout, MMW, Ausloos, F, Awasthi, A, Badawi, A, Banach, M, Bejarano Ramirez, DF, Bhagavathula, AS, Bhala, N, Bhattacharyya, K, Biondi, A, Bolla, SR, Boloor, A, Borzi, AM, Butt, ZA, Alberto Camera, LLA, Campos-Nonato, IR, Carvalho, F, Dinh-Toi, C, Chung, S-C, Cortesi, PA, Costa, VM, Cowie, BC, Daryani, A, de Courten, B, Demoz, GT, Desai, R, Dharmaratne, SD, Djalalinia, S, Hoa, TD, Dorostkar, F, Drake, TM, Dubey, M, Duncan, BB, Effiong, A, Eftekhari, A, Elsharkawy, A, Etemadi, A, Farahmand, M, Farzadfar, F, Fernandes, E, Filip, I, Fischer, F, Gebremedhin, KBB, Geta, B, Gilani, SA, Gill, PS, Alma Gutierrez, R, Haile, MT, Haj-Mirzaian, A, Hamid, SS, Hasankhani, M, Hasanzadeh, A, Hashemian, M, Hassen, HY, Hay, SI, Hayat, K, Heidari, B, Henok, A, Chi, LH, Hostiuc, M, Hostiuc, S, Hsieh, VC-R, Igumbor, EU, Ilesanmi, OS, Irvani, SSN, Balalami, NJ, James, SL, Jeemon, P, Jha, RP, Jonas, JB, Jozwiak, JJ, Kabir, A, Kasaeian, A, Kassaye, HG, Kefale, AT, Khan, RKMA, Khan, EA, Khater, A, Kim, YJ, Koyanagi, A, La Vecchia, C, Lim, L-L, Lopez, AD, Lorkowski, S, Lotufo, PA, Lozano, R, Abd El Razek, MM, Hue, TM, Manafi, N, Manafi, A, Mansournia, MA, Mantovani, LG, Mazzaglia, G, Mehta, D, Mendoza, W, Menezes, RG, Mengesha, MM, Meretoja, TJ, Mestrovic, T, Miazgowski, B, Miller, TR, Mirrakhimov, EM, Mithra, P, Moazen, B, Moghadaszadeh, M, Mohammadian-Hafshejani, A, Mohammed, S, Mokdad, AH, Montero-Zamora, PA, Moradi, G, Naimzada, MD, Nayak, V, Negoi, I, Trang, HN, Ofori-Asenso, R, Oh, I-H, Olagunju, TO, Padubidri, JR, Pakshir, K, Pana, A, Pathak, M, Pourshams, A, Rabiee, N, Radfar, A, Rafiei, A, Ramezanzadeh, K, Rana, SMM, Rawaf, S, Rawaf, DL, Reiner, RC, Roever, L, Room, R, Roshandel, G, Safari, S, Samy, AM, Sanabria, J, Sartorius, B, Schmidt, MI, Senthilkumaran, S, Shaikh, MA, Sharif, M, Sharifi, A, Shigematsu, M, Singh, JA, Soheili, A, Suleria, HAR, Teklehaimanot, BF, Tesfay, BE, Vacante, M, Vahedian-Azimi, A, Valdez, PR, Vasankari, TJ, Giang, TV, Waheed, Y, Weldegwergs, KG, Werdecker, A, Westerman, R, Wondafrash, DZ, Wondmieneh, AB, Yeshitila, YG, Yonemoto, N, Yu, C, Zaidi, Z, Zarghi, A, Zelber-Sagi, S, Zewdie, KA, Zhang, Z-J, Zhao, X-J, Naghavi, M, Malekzadeh, R, Sepanlou, SG, Safiri, S, Bisignano, C, Ikuta, KS, Merat, S, Saberifiroozi, M, Poustchi, H, Tsoi, D, Colombara, DV, Abdoli, A, Adedoyin, RA, Afarideh, M, Agrawal, S, Ahmad, S, Ahmadian, E, Ahmadpour, E, Akinyemiju, T, Akunna, CJ, Alipour, V, Almasi-Hashiani, A, Almulhim, AM, Al-Raddadi, RM, Alvis-Guzman, N, Anber, NH, Angus, C, Anoushiravani, A, Arabloo, J, Araya, EM, Asmelash, D, Ataeinia, B, Ataro, Z, Atout, MMW, Ausloos, F, Awasthi, A, Badawi, A, Banach, M, Bejarano Ramirez, DF, Bhagavathula, AS, Bhala, N, Bhattacharyya, K, Biondi, A, Bolla, SR, Boloor, A, Borzi, AM, Butt, ZA, Alberto Camera, LLA, Campos-Nonato, IR, Carvalho, F, Dinh-Toi, C, Chung, S-C, Cortesi, PA, Costa, VM, Cowie, BC, Daryani, A, de Courten, B, Demoz, GT, Desai, R, Dharmaratne, SD, Djalalinia, S, Hoa, TD, Dorostkar, F, Drake, TM, Dubey, M, Duncan, BB, Effiong, A, Eftekhari, A, Elsharkawy, A, Etemadi, A, Farahmand, M, Farzadfar, F, Fernandes, E, Filip, I, Fischer, F, Gebremedhin, KBB, Geta, B, Gilani, SA, Gill, PS, Alma Gutierrez, R, Haile, MT, Haj-Mirzaian, A, Hamid, SS, Hasankhani, M, Hasanzadeh, A, Hashemian, M, Hassen, HY, Hay, SI, Hayat, K, Heidari, B, Henok, A, Chi, LH, Hostiuc, M, Hostiuc, S, Hsieh, VC-R, Igumbor, EU, Ilesanmi, OS, Irvani, SSN, Balalami, NJ, James, SL, Jeemon, P, Jha, RP, Jonas, JB, Jozwiak, JJ, Kabir, A, Kasaeian, A, Kassaye, HG, Kefale, AT, Khan, RKMA, Khan, EA, Khater, A, Kim, YJ, Koyanagi, A, La Vecchia, C, Lim, L-L, Lopez, AD, Lorkowski, S, Lotufo, PA, Lozano, R, Abd El Razek, MM, Hue, TM, Manafi, N, Manafi, A, Mansournia, MA, Mantovani, LG, Mazzaglia, G, Mehta, D, Mendoza, W, Menezes, RG, Mengesha, MM, Meretoja, TJ, Mestrovic, T, Miazgowski, B, Miller, TR, Mirrakhimov, EM, Mithra, P, Moazen, B, Moghadaszadeh, M, Mohammadian-Hafshejani, A, Mohammed, S, Mokdad, AH, Montero-Zamora, PA, Moradi, G, Naimzada, MD, Nayak, V, Negoi, I, Trang, HN, Ofori-Asenso, R, Oh, I-H, Olagunju, TO, Padubidri, JR, Pakshir, K, Pana, A, Pathak, M, Pourshams, A, Rabiee, N, Radfar, A, Rafiei, A, Ramezanzadeh, K, Rana, SMM, Rawaf, S, Rawaf, DL, Reiner, RC, Roever, L, Room, R, Roshandel, G, Safari, S, Samy, AM, Sanabria, J, Sartorius, B, Schmidt, MI, Senthilkumaran, S, Shaikh, MA, Sharif, M, Sharifi, A, Shigematsu, M, Singh, JA, Soheili, A, Suleria, HAR, Teklehaimanot, BF, Tesfay, BE, Vacante, M, Vahedian-Azimi, A, Valdez, PR, Vasankari, TJ, Giang, TV, Waheed, Y, Weldegwergs, KG, Werdecker, A, Westerman, R, Wondafrash, DZ, Wondmieneh, AB, Yeshitila, YG, Yonemoto, N, Yu, C, Zaidi, Z, Zarghi, A, Zelber-Sagi, S, Zewdie, KA, Zhang, Z-J, Zhao, X-J, Naghavi, M, and Malekzadeh, R

Abstract

BACKGROUND: Cirrhosis and other chronic liver diseases (collectively referred to as cirrhosis in this paper) are a major cause of morbidity and mortality globally, although the burden and underlying causes differ across locations and demographic groups. We report on results from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2017 on the burden of cirrhosis and its trends since 1990, by cause, sex, and age, for 195 countries and territories. METHODS: We used data from vital registrations, vital registration samples, and verbal autopsies to estimate mortality. We modelled prevalence of total, compensated, and decompensated cirrhosis on the basis of hospital and claims data. Disability-adjusted life-years (DALYs) were calculated as the sum of years of life lost due to premature death and years lived with disability. Estimates are presented as numbers and age-standardised or age-specific rates per 100 000 population, with 95% uncertainty intervals (UIs). All estimates are presented for five causes of cirrhosis: hepatitis B, hepatitis C, alcohol-related liver disease, non-alcoholic steatohepatitis (NASH), and other causes. We compared mortality, prevalence, and DALY estimates with those expected according to the Socio-demographic Index (SDI) as a proxy for the development status of regions and countries. FINDINGS: In 2017, cirrhosis caused more than 1·32 million (95% UI 1·27-1·45) deaths (440 000 [416 000-518 000; 33·3%] in females and 883 000 [838 000-967 000; 66·7%] in males) globally, compared with less than 899 000 (829 000-948 000) deaths in 1990. Deaths due to cirrhosis constituted 2·4% (2·3-2·6) of total deaths globally in 2017 compared with 1·9% (1·8-2·0) in 1990. Despite an increase in the number of deaths, the age-standardised death rate decreased from 21·0 (19·2-22·3) per 100 000 population in 1990 to 16·5 (15·8-18·1) per 100 000 population in 2017. Sub-Saharan Africa had the highest age-standardised death rate among GBD super-regions fo

Published
2020

205. The global, regional, and national burden of oesophageal cancer and its attributable risk factors in 195 countries and territories, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017

Author

Kamangar, F, Nasrollahzadeh, D, Safiri, S, Sepanlou, SG, Fitzmaurice, C, Ikuta, KS, Bisignano, C, Islami, F, Roshandel, G, Lim, SS, Abolhassani, H, Abu-Gharbieh, E, Adedoyin, RA, Advani, SM, Ahmed, MB, Aichour, MTE, Akinyemiju, T, Akunna, CJ, Alahdab, F, Alipour, V, Almasi-Hashiani, A, Almulhim, AM, Anber, NH, Ansari-Moghaddam, A, Arabloo, J, Arab-Zozani, M, Awedew, AF, Badawi, A, Berfield, KSS, Berhe, K, Bhattacharyya, K, Biondi, A, Bjorge, T, Borzi, AM, Bosetti, C, Carreras, G, Carvalho, F, Castro, C, Chu, D-T, Costa, VM, Dagnew, B, Gela, JD, Daryani, A, Demeke, FM, Demoz, GT, Dianatinasab, M, Elbarazi, I, Emamian, MH, Etemadi, A, Faris, PS, Fernandes, E, Filip, I, Fischer, F, Gad, MM, Gallus, S, Gebre, AK, Gebrehiwot, TT, Gebremeskel, GG, Gebresillassie, BM, Ghasemi-kebria, F, Ghashghaee, A, Ghith, N, Golechha, M, Gorini, G, Gupta, R, Hafezi-Nejad, N, Haj-Mirzaian, A, Harvey, JD, Hashemian, M, Hassen, HY, Hay, SI, Henok, A, Hoang, CL, Hosgood, HD, Househ, M, Ilesanmi, OS, Ilic, MD, Irvani, SSN, Jain, C, James, SL, Jee, SH, Jha, RP, Joukar, F, Kabir, A, Kasaeian, A, Kassaw, MW, Kaur, S, Kengne, AP, Kerboua, E, Khader, YS, Khalilov, R, Khan, EA, Khoja, AT, Kocarnik, JM, Komaki, H, Kumar, V, La Vecchia, C, Lasrado, S, Li, B, Lopez, AD, Majeed, A, Manafi, N, Manda, AL, Mansour-Ghanaei, F, Mathur, MR, Mehta, V, Mehta, D, Mendoza, W, Mithra, P, Mohammad, KA, Mohammadian-Hafshejani, A, Mohammadpourhodki, R, Mohammed, JA, Mohebi, F, Mokdad, AH, Monasta, L, Moosavi, D, Moosazadeh, M, Moradi, G, Moradpour, F, Moradzadeh, R, Naik, G, Negoi, I, Nggada, HA, Nguyen, HLT, Nikbakhsh, R, Nixon, MR, Olagunju, AT, Olagunju, TO, Padubidri, JR, Pakshir, K, Patel, S, Pathak, M, Pham, HQ, Pourshams, A, Rabiee, N, Rabiee, M, Radfar, A, Rafiei, A, Ramezanzadeh, K, Rath, GK, Rathi, P, Rawaf, S, Rawaf, DL, Rezaei, N, Roro, EM, Saad, AM, Salimzadeh, H, Samy, AM, Sartorius, B, Sarveazad, A, Sekerija, M, Sha, F, Shamsizadeh, M, Sheikhbahaei, S, Shirkoohi, R, Malleshappa, SKS, Singh, JA, Sinha, DN, Smarandache, C-G, Soshnikov, S, Suleria, HAR, Tadesse, DB, Tesfay, BE, Thakur, B, Traini, E, Tran, KB, Tran, BX, Ullah, I, Vacante, M, Veisani, Y, Vujcic, IS, Weldesamuel, GT, Xu, R, Yazdi-Feyzabadi, V, Yuce, D, Zadnik, V, Zaidi, Z, Zhang, Z-J, Malekzadeh, R, Naghavi, M, Kamangar, F, Nasrollahzadeh, D, Safiri, S, Sepanlou, SG, Fitzmaurice, C, Ikuta, KS, Bisignano, C, Islami, F, Roshandel, G, Lim, SS, Abolhassani, H, Abu-Gharbieh, E, Adedoyin, RA, Advani, SM, Ahmed, MB, Aichour, MTE, Akinyemiju, T, Akunna, CJ, Alahdab, F, Alipour, V, Almasi-Hashiani, A, Almulhim, AM, Anber, NH, Ansari-Moghaddam, A, Arabloo, J, Arab-Zozani, M, Awedew, AF, Badawi, A, Berfield, KSS, Berhe, K, Bhattacharyya, K, Biondi, A, Bjorge, T, Borzi, AM, Bosetti, C, Carreras, G, Carvalho, F, Castro, C, Chu, D-T, Costa, VM, Dagnew, B, Gela, JD, Daryani, A, Demeke, FM, Demoz, GT, Dianatinasab, M, Elbarazi, I, Emamian, MH, Etemadi, A, Faris, PS, Fernandes, E, Filip, I, Fischer, F, Gad, MM, Gallus, S, Gebre, AK, Gebrehiwot, TT, Gebremeskel, GG, Gebresillassie, BM, Ghasemi-kebria, F, Ghashghaee, A, Ghith, N, Golechha, M, Gorini, G, Gupta, R, Hafezi-Nejad, N, Haj-Mirzaian, A, Harvey, JD, Hashemian, M, Hassen, HY, Hay, SI, Henok, A, Hoang, CL, Hosgood, HD, Househ, M, Ilesanmi, OS, Ilic, MD, Irvani, SSN, Jain, C, James, SL, Jee, SH, Jha, RP, Joukar, F, Kabir, A, Kasaeian, A, Kassaw, MW, Kaur, S, Kengne, AP, Kerboua, E, Khader, YS, Khalilov, R, Khan, EA, Khoja, AT, Kocarnik, JM, Komaki, H, Kumar, V, La Vecchia, C, Lasrado, S, Li, B, Lopez, AD, Majeed, A, Manafi, N, Manda, AL, Mansour-Ghanaei, F, Mathur, MR, Mehta, V, Mehta, D, Mendoza, W, Mithra, P, Mohammad, KA, Mohammadian-Hafshejani, A, Mohammadpourhodki, R, Mohammed, JA, Mohebi, F, Mokdad, AH, Monasta, L, Moosavi, D, Moosazadeh, M, Moradi, G, Moradpour, F, Moradzadeh, R, Naik, G, Negoi, I, Nggada, HA, Nguyen, HLT, Nikbakhsh, R, Nixon, MR, Olagunju, AT, Olagunju, TO, Padubidri, JR, Pakshir, K, Patel, S, Pathak, M, Pham, HQ, Pourshams, A, Rabiee, N, Rabiee, M, Radfar, A, Rafiei, A, Ramezanzadeh, K, Rath, GK, Rathi, P, Rawaf, S, Rawaf, DL, Rezaei, N, Roro, EM, Saad, AM, Salimzadeh, H, Samy, AM, Sartorius, B, Sarveazad, A, Sekerija, M, Sha, F, Shamsizadeh, M, Sheikhbahaei, S, Shirkoohi, R, Malleshappa, SKS, Singh, JA, Sinha, DN, Smarandache, C-G, Soshnikov, S, Suleria, HAR, Tadesse, DB, Tesfay, BE, Thakur, B, Traini, E, Tran, KB, Tran, BX, Ullah, I, Vacante, M, Veisani, Y, Vujcic, IS, Weldesamuel, GT, Xu, R, Yazdi-Feyzabadi, V, Yuce, D, Zadnik, V, Zaidi, Z, Zhang, Z-J, Malekzadeh, R, and Naghavi, M

Abstract

BACKGROUND: Oesophageal cancer is a common and often fatal cancer that has two main histological subtypes: oesophageal squamous cell carcinoma and oesophageal adenocarcinoma. Updated statistics on the incidence and mortality of oesophageal cancer, and on the disability-adjusted life-years (DALYs) caused by the disease, can assist policy makers in allocating resources for prevention, treatment, and care of oesophageal cancer. We report the latest estimates of these statistics for 195 countries and territories between 1990 and 2017, by age, sex, and Socio-demographic Index (SDI), using data from the Global Burden of Diseases, Injuries, and Risk Factors Study 2017 (GBD). METHODS: We used data from vital registration systems, vital registration-samples, verbal autopsy records, and cancer registries, combined with relevant modelling, to estimate the mortality, incidence, and burden of oesophageal cancer from 1990 to 2017. Mortality-to-incidence ratios (MIRs) were estimated and fed into a Cause of Death Ensemble model (CODEm) including risk factors. MIRs were used for mortality and non-fatal modelling. Estimates of DALYs attributable to the main risk factors of oesophageal cancer available in GBD were also calculated. The proportion of oesophageal squamous cell carcinoma to all oesophageal cancers was extracted by use of publicly available data, and its variation was examined against SDI, the Healthcare Access and Quality (HAQ) Index, and available risk factors in GBD that are specific for oesophageal squamous cell carcinoma (eg, unimproved water source and indoor air pollution) and for oesophageal adenocarcinoma (gastro-oesophageal reflux disease). FINDINGS: There were 473 000 (95% uncertainty interval [95% UI] 459 000-485 000) new cases of oesophageal cancer and 436 000 (425 000-448 000) deaths due to oesophageal cancer in 2017. Age-standardised incidence was 5·9 (5·7-6·1) per 100 000 population and age-standardised mortality was 5·5 (5·3-5·6) per 100 000. Oesophageal c

Published
2020

206. Rotational structures in 123Cs

Author

Singh, Kuljeet, Naik, Z., Kumar, R., Goswamy, J., Mehta, D., Singh, N., Praharaj, C. R., Paul, E. S., Singh, K. P., Singh, R. P., Muralithar, S., Madhavan, N., Das, J. J., Nath, S., Jhingan, A., Sugathan, P., and Bhowmik, R. K.

Published
2005
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207. 10th Annual scientific session September 29–October 2, 2005 Seattle, Washington

Author

Hacker, M, Jakobs, T, Matthiesen, F, Vollmar, C, Nikolaou, K, Becker, C, Knez, A, Pfluger, T, Tiling, R, Hahn, K, Iwanochko, RM, Petrovici, R, Lee, DS, Husain, M, Woo, A, Siu, S, Masry, HZ El, Jaradat, Z, Khan, BR, Kalaria, VG, Mahenthiran, J, Raiesdana, A, Sawada, SG, Shah, DP, Virnich, DE, Ward, RP, Gundeck, EL, Williams, KA, Spencer, KT, Lang, RM, Akutsu, Y, Gewirtz, H, Gregory, SA, Zervos, GD, Thomas, GS, Yasuda, T, Duvall, WL, Croft, LB, Pungoti, C, Henzlova, MJ, Hage, FG, Heo, J, Iskandrian, AE, Johnson, NP, Leonard, SM, Kansal, P, Wu, E, Holly, TA, Michelena, HI, Stepnowski, D, Frain, V, Dempsey, DT, Kowalski, C, Van Decker, WA, Smanio, P, Rodrigues, F, Meneghelo, R, Mastrocolla, L, Thorn, A, Piegas, L, Beraldo, P, Mello, R, Tebexreni, S, ten Cate, TJF, Visser, FC, Panhuyzen-Goedkoop, NM, Verzijlbergen, JF, van Hemel, NM, Thompsen, J, Athar, H, Sainani, V, O’Sullivan, D, Leka, I, Heller, GV, Jansen, M, Grasman, M, Stier, A, Konnann, O, Silva, JA, Vitola, JV, Cunha, C, Cerci, MS, Ribeiro, OF, Jansen, MHA, Grasman, ME, Zukovski, T, Mickevicz, C, Visser, F, Snyder, K, Polepalle, D, Nichols, KJ, Dim, U, Akinboboye, OO, Vijay Anand, D, Lim, E, Nagar, K, Raval, U, Lahiri, A, Elhendy, A, Huurman, A, Schinkel, AF, Bax, JJ, van Domburg, RT, Valkema, R, Poldermans, D, Heiba, SI, Katzel, JA, Altinyay, E, Milarodovic, R, Castellon, I, Raphael, B, Abdel-Dayem, HA, Coppola, J, Heston, TF, Høilund-Carlsen, PF, Johansen, A, Vach, W, Christensen, HW, Møldrup, M, Haghfelt, T, Kumar, A, Stricker, S, Das, MK, Oddis, CV, Byrne, D, Myers, JS, Churchwell, AL, Churchwell, KB, Nichols, KJ, Dim, U, Wang, Y, Akinboboye, OO, Bergmann, SR, Druz, RS, Gopal, AS, Borges, A, Ngai, K, Chen, J, Caputlu-Wilson, SF, Shi, H, Galt, JR, Faber, TL, Garcia, EV, Cole, V, Habtemarkos, R, Sun, L, Lacy, J, Kjaer, A, Cortsen, A, Federspiel, M, Holm, S, O’Connor, M, Hesse, B, Lewin, HC, Hyun, MC, Carboni, GP, Tavolozza, M, Fukuzawa, S, Ozawa, S, Inagaki, M, Sugioka, J, Okino, S, Ichikawa, S, Mohart, JM, Fairlamb, JE, Hutter, AJ, Gutierrez, FR, Zheng, J, Lesniak, DM, Gropler, RJ, Woodard, PK, Santana, C, Esteves, FP, Lerakis, S, Halkar, R, Narla, R, Santana, CA, Alvarez, A, Halkar, RK, Chen, S, Yao, Z, Ramrakhiani, S, Safadi, AH, Foltz, JM, Stricker, SL, Williams, AA, Grewal, KS, George, PB, Richards, DR, Calnon, DA, Bhama, A, Goetze, S, Wahl, RL, Elmquist, T, Mazzara, J, Hsu, BL, Moser, KW, Bateman, TM, Stoner, C, Case, JA, Matsumoto, N, Sato, Y, Yoda, S, Muromoto, M, Nalamolu, VRP, Patel, RN, Dias, JK, Kaminski, RJ, Kersey, TW, Robinson, VJB, Oaknin, JH, Shwartz, SC, Pagnanelli, RA, Coleman, RE, Borges-Neto, S, Cullom, SJ, Noble, GL, Masse, M, McGhie, AI, Friedman, JD, Devabhaktuni, M, Hickey, KT, Sciacca, RR, Giedd, KN, Johnson, U, Bokhari, S, Nemirovsky, D, Machac, J, Almeida, D, Kanayama, S, Satake, O, Kajinami, K, Hertenstein, GK, Volker, LL, Verdes, L, Folks, RD, Clements, IP, Mullan, BP, Breen, JF, McGregor, CG, Côté, C, Dumont, M, Lefebvre, J, Poirier, L, Lacourcière, Y, Gupta, R, Aqel, RA, Mehta, D, Clay, MA, Zoghbi, G, Hwang, K-H, Kim, J-H, Choe, W, Kim, N-B, Khateeb, R, Keefer, PM, Vedala, G, Mahajan, NM, Shetty, VS, Thekkott, DT, Hollander, GH, Greengart, AG, Shani, JS, Lichstein, EL, Raza, M, Panjrath, G, Meesala, M, Ghanbarinia, A, Jain, D, Seo, I, Del Priore, E, Almonte, A, Kappes, R, Fedida, A, Ong, K, Kritzman, JN, Dey, S, Corbett, JR, Ficaro, EP, Stowers, SA, Tomlinson, GC, Cunningham, MS, Guilarte, NM, Carrio, I, Lundbye, JB, Katten, D, Ahlberg, A, Boden, WE, Cyr, G, Paiesdana, A, and Murthy, DR

Published
2005
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209. Band structures of the 123Cs nucleus

Author

Singh, Kuljeet, Goswamy, J., Mehta, D., Singh, Nirmal, Singh, R. P., Muralithar, S., Paul, E. S., Singh, K. P., Madhavan, N., Das, J. J., Nath, S., Jhingan, A., Sughathan, P., and Bhowmik, R. K.

Published
2004
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233. Postoperative Atrial Fibrillation and Long-Term Risk of Stroke After Isolated Coronary Artery Bypass Graft Surgery

Author

Benedetto, Umberto, primary, Gaudino, Mario F., additional, Dimagli, Arnaldo, additional, Gerry, Stephen, additional, Gray, Alastair, additional, Lees, Belinda, additional, Flather, Marcus, additional, Taggart, David P., additional, Westaby, S., additional, Cook, J., additional, Wallis, C., additional, Wos, S., additional, Jasinski, M., additional, Widenka, K., additional, Blach, A., additional, Gocol, R., additional, Hudziak, D., additional, Zurek, P., additional, Deja, M., additional, Bachowski, R., additional, Mrozek, R., additional, Kargul, T., additional, Domarardzki, W., additional, Frackiewicz, J., additional, Zamvar, V., additional, Ezakadan, D., additional, Buxton, B., additional, Seevanayagam, S., additional, Matalanis, G., additional, Rosalion, A., additional, Negri, J., additional, Moten, S., additional, Atkinson, V., additional, Newcomb, A., additional, Polidano, P., additional, Pana, R., additional, Gerbo, S., additional, O’Keefe, P., additional, von Oppell, U., additional, Mehta, D., additional, Azzu, A., additional, Szafranek, A., additional, Kulatilake, E., additional, Evans, J., additional, Martin, N., additional, Banner, D., additional, Trivedi, U., additional, Forsyth, A., additional, Hyde, J., additional, Cohen, A., additional, Lewis, M., additional, Gardner, E., additional, MacKenzie, A., additional, Cooter, N., additional, Joyce, E., additional, Parker, J., additional, Champney, F., additional, Clark, S., additional, Dark, J., additional, Tocewicz, K., additional, Pillay, T., additional, Rowling, S., additional, Adams-Hall, J., additional, Bochenek, A., additional, Cisowski, M., additional, Bolkowski, M., additional, Morawski, W., additional, Guc, M., additional, Krejca, M., additional, Wilczynski, M., additional, Duralek, A., additional, Gerber, W., additional, Skarysz, J., additional, Shrestha, R., additional, Swiech, W., additional, Szmagala, P., additional, Krzych, L., additional, Pawlak, A., additional, Kepa, K., additional, Hasan, R., additional, Keenan, D., additional, Prendergast, B., additional, Odom, N., additional, McLaughlin, K., additional, Cummings-Fosong, G., additional, Mathew, C., additional, Iles-Smith, H., additional, Oomen, A., additional, Desai, J., additional, El-Gamel, A., additional, John, L., additional, Wendler, O., additional, Andrews, M., additional, Rance, K., additional, Williams, R., additional, Hogervorst, V., additional, Gregory, J., additional, Jessup, J., additional, Knighton, A., additional, Hoare, A., additional, Ritchie, A., additional, Choong, C., additional, Nair, S., additional, Jenkins, D., additional, Large, S., additional, Sudarshan, C., additional, Barman, M., additional, Dhital, K., additional, Routledge, T., additional, Rosengard, B., additional, Munday, H., additional, Rintoul, K., additional, Jarrett, E., additional, Lao-Sirieix, S., additional, Wilkinson, A., additional, Garner, L., additional, Osmond, J., additional, Holcombe, H., additional, Cale, A., additional, Griffin, S., additional, Dickson, J., additional, Spyt, T., additional, Hickey, M., additional, Sosnowski, A., additional, Peek, G., additional, Szostek, J., additional, Hadjinikalaou, L., additional, Logtens, E., additional, Oakley, M., additional, Leji, S., additional, Gaer, J., additional, Amrani, M., additional, Dreyfus, G., additional, Bahrami, T., additional, Baig, K., additional, Asimakopoulos, G., additional, Vohra, H., additional, Pai, V., additional, Tadjkarimi, Soleimani, S., additional, Stavri, G., additional, Bull, G., additional, Collappen, H., additional, Sadowksi, J., additional, Gaweda, B., additional, Rudzinski, P., additional, Stolinski, J., additional, Konstanty-Kalandyk, J., additional, Moraes, F., additional, Moraes, C., additional, Wanderley, J., additional, Pepper, J., additional, De Souza, A., additional, Petrou, M., additional, Trimlett, R., additional, Morgan, T., additional, Gavino, J., additional, Wang, S.F., additional, Chandrasekaran, V., additional, Kanagasaby, R., additional, Sarsam, M., additional, Ryan, H., additional, Billings, L., additional, Ruddick, L., additional, Achampong, A., additional, Forster, E., additional, Pawlaczyk, R., additional, Siondalski, P., additional, Rogowski, J., additional, Roszak, K., additional, Jarmoszewicz, K., additional, Jagielak, D., additional, Gafka, S., additional, Mannam, Naguboyin, G., additional, Rao Sajja, L., additional, Dandu, B., additional, Briffa, N., additional, Braidley, P., additional, Cooper, G., additional, Allen, K., additional, Sangha, G., additional, Bridge, C., additional, McMellon, H., additional, Casabona, R., additional, Actis Dato, G., additional, Bardi, G., additional, Del Ponte, Forsennati, S., additional, Parisi, F., additional, Punta, G., additional, Flocco, R., additional, Sansone, F., additional, Zingarelli, E., additional, Dihmis, W., additional, Kuduvali, M., additional, Rince, C., additional, Rogers, H., additional, McQuade, L., additional, Anisimowicz, L., additional, Bokszanski, M., additional, Pawliszak, W., additional, Kolakowski, J., additional, Lau, G., additional, Ogorzeja, W., additional, Gumanska, I., additional, Kulinski, P., additional, Podesser, B., additional, Trescher, K., additional, Bernecker, O., additional, Holzinger, C., additional, Binder, K., additional, Schor, I., additional, Bergmann, P., additional, Kassal, H., additional, Motovova, B., additional, Trehan, N., additional, Meharwal, Z., additional, Malhotra, R., additional, Goel, M., additional, Kumer, B., additional, Bazaz, S., additional, Bake, N., additional, Singh, A., additional, Mishka, Y., additional, Gupta, R., additional, Basumatary, S., additional, Zembala, M., additional, Szafron, B., additional, Pacholewicz, J., additional, Krason, M., additional, Szymanik, I., additional, Kolwca, M., additional, Mazur, W., additional, Kurowicki, A., additional, Zurek, S., additional, Stacel, T., additional, and Jaworska, I., additional

Published
2020
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234. Evidence of antimagnetic rotation in Pd100

Author

Sihotra, S., primary, Kumar, D., additional, Kaur, M., additional, Singh, V., additional, Saha, S., additional, Sethi, J., additional, Palit, R., additional, Singh, N., additional, and Mehta, D., additional

Published
2020
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244. Genetic overlap analysis of endometriosis and asthma identifies shared loci implicating sex hormones and thyroid signalling pathways.

Author

Adewuyi, E O, Mehta, D, (IEC), International Endogene Consortium, Team, 23andMe Research, Nyholt, D R, International Endogene Consortium (IEC), and 23andMe Research Team

Subjects
*GENETIC correlations, *ENDOMETRIOSIS, *CELLULAR signal transduction, *ANDROGEN receptors, *SEX hormones, *ASTHMA, *RESEARCH, *SEQUENCE analysis, *META-analysis, *RESEARCH methodology, *GENETIC polymorphisms, *EVALUATION research, *COMPARATIVE studies, *DISEASE susceptibility, *GENOMES, *RESEARCH funding, *THYROID gland
Abstract

Study Question: Is there a shared genetic or causal association of endometriosis with asthma or what biological mechanisms may underlie their potential relationships?Summary Answer: Our results confirm a significant but non-causal association of endometriosis with asthma implicating shared genetic susceptibility and biological pathways in the mechanisms of the disorders, and potentially, their co-occurrence.What Is Known Already: Some observational studies have reported a pattern of co-occurring relationship between endometriosis and asthma; however, there is conflicting evidence and the aetiology, as well as the underlying mechanisms of the relationship, remain unclear.Study Design, Size, Duration: We applied multiple statistical genetic approaches in the analysis of well-powered, genome-wide association study (GWAS) summary data to comprehensively assess the relationship of endometriosis with asthma. Endometriosis GWAS from the International Endogene Consortium (IEC, 17 054 cases and 191 858 controls) and asthma GWAS from the United Kingdom Biobank (UKB, 26 332 cases and 375 505 controls) were analysed. Additional asthma data from the Trans-National Asthma Genetic Consortium (TAGC, 19 954 cases and 107 715 controls) were utilized for replication testing.Participants/materials, Setting, Methods: We assessed single-nucleotide polymorphism (SNP)-level genetic overlap and correlation between endometriosis and asthma using SNP effect concordance analysis (SECA) and linkage disequilibrium score regression analysis (LDSC) methods, respectively. GWAS meta-analysis, colocalization (GWAS-PW), gene-based and pathway-based functional enrichment analysis methods were applied, respectively, to identify SNP loci, genomic regions, genes and biological pathways shared by endometriosis and asthma. Potential causal associations between endometriosis and asthma were assessed using Mendelian randomization (MR) methods.Main Results and the Role Of Chance: SECA revealed significant concordance of SNP risk effects across the IEC endometriosis and the UKB asthma GWAS. Also, LDSC analysis found a positive and significant genetic correlation (rG = 0.16, P = 2.01 × 10-6) between the two traits. GWAS meta-analysis of the IEC endometriosis and UKB asthma GWAS identified 14 genome-wide significant (Pmeta-analysis < 5.0 × 10-8) independent loci, five of which are putatively novel. Three of these loci were consistently replicated using TAGC asthma GWAS and reinforced in colocalization and gene-based analyses. Additional shared genomic regions were identified in the colocalization analysis. MR found no evidence of a significant causal association between endometriosis and asthma. However, combining gene-based association results across the GWAS for endometriosis and asthma, we identified 17 shared genes with a genome-wide significant Fisher's combined P-value (FCPgene) <2.73 × 10-6. Additional analyses (independent gene-based analysis) replicated evidence of gene-level genetic overlap between endometriosis and asthma. Biological mechanisms including 'thyroid hormone signalling', 'abnormality of immune system physiology', 'androgen biosynthetic process' and 'brain-derived neurotrophic factor signalling pathway', among others, were significantly enriched for endometriosis and asthma in a pathway-based analysis.Large Scale Data: The GWAS for endometriosis data were sourced from the International Endogen Consortium (IEC) and can be accessed by contacting the consortium. The GWAS data for asthma are freely available online at Lee Lab (https://www.leelabsg.org/resources) and from the Trans-National Asthma Genetic Consortium (TAGC).Limitations, Reasons For Caution: Given we analysed GWAS datasets from mainly European populations, our results may not be generalizable to other ancestries.Wider Implications Of the Findings: This study provides novel insights into mechanisms underpinning endometriosis and asthma, and potentially their observed relationship. Findings support a co-occurring relationship of endometriosis with asthma largely due to shared genetic components. Agents targeting 'selective androgen receptor modulators' may be therapeutically relevant in both disorders. Moreover, SNPs, loci, genes and biological pathways identified in our study provide potential targets for further investigation in endometriosis and asthma.Study Funding/competing Interest(s): National Health and Medical Research Council (NHMRC) of Australia (241,944, 339,462, 389,927, 389,875, 389,891, 389,892, 389,938, 443,036, 442,915, 442,981, 496,610, 496,739, 552,485, 552,498, 1,026,033 and 1,050,208), Wellcome Trust (awards 076113 and 085475) and the Lundbeck Foundation (R102-A9118 and R155-2014-1724). All researchers had full independence from the funders. Authors do not have any conflict of interest. [ABSTRACT FROM AUTHOR]

Published
2022
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245. Identification of common genetic risk variants for autism spectrum disorder

Author

Grove, J., Ripke, S., Als, T.D., Mattheisen, M., Walters, R.K., Won, H., Pallesen, J., Agerbo, E., Andreassen, O.A., Anney, R., Awashti, S., Belliveau, R., Bettella, F., Buxbaum, J.D., Bybjerg-Grauholm, J., Baekvad-Hansen, M., Cerrato, F., Chambert, K., Christensen, J.H., Churchhouse, C., Dellenvall, K., Demontis, D., Rubeis, S. de, Devlin, B., Djurovic, S., Dumont, A.L., Goldstein, J.I., Hansen, C.S., Hauberg, M.E., Hollegaard, M.V., Hope, S., Howrigan, D.P., Huang, H., Hultman, C.M., Klei, L., Maller, J., Martin, J., Martin, A.R., Moran, J.L., Nyegaard, M., Naeland, T., Palmer, D.S., Palotie, A., Pedersen, C.B., Pedersen, M.G., dPoterba, T., Poulsen, J.B., St Pourcain, B., Qvist, P., Rehnstrom, K., Reichenberg, A., Reichert, J., Robinson, E.B., Roeder, K., Roussos, P., Saemundsen, E., Sandin, S., Satterstrom, F.K., Smith, G.D., Stefansson, H., Steinberg, S., Stevens, C.R., Sullivan, P.F., Turley, P., Walters, G.B., Xu, X.Y., Stefansson, K., Geschwind, D.H., Nordentoft, M., Hougaard, D.M., Werge, T., Mors, O., Mortensen, P.B., Neale, B.M., Daly, M.J., Borglum, A.D., Wray, N.R., Trzaskowski, M., Byrne, E.M., Abdellaoui, A., Adams, M.J., Air, T.M., Andlauer, T.F.M., Bacanu, S.A., Beekman, A.T.F., Bigdeli, T.B., Binder, E.B., Blackwood, D.H.R., Bryois, J., Buttenschon, H.N., Cai, N., Castelao, E., Clarke, T.K., Coleman, J.R.I., Colodro-Conde, L., Couvy-Duchesne, B., Craddock, N., Crawford, G.E., Davies, G., Deary, I.J., Degenhardt, F., Derks, E.M., Direk, N., Dolan, C.V., Dunn, E.C., Eley, T.C., Escott-Price, V., Kiadeh, F.F.H., Finucane, H.K., Forstner, A.J., Frank, J., Gaspar, H.A., Gill, M., Goes, F.S., Gordon, S.D., Hall, L.S., Hansen, T.F., Herms, S., Hickie, I.B., Hoffmann, P., Homuth, G., Horn, C., Hottenga, J.J., Ising, M., Jansen, R., Jorgenson, E., Knowles, J.A., Kohane, I.S., Kraft, J., Kretzschmar, W.W., Krogh, J., Kutalik, Z., Li, Y., Lind, P.A., MacIntyre, D.J., MacKinnon, D.F., Maier, R.M., Maier, W., Marchini, J., Mbarek, H., McGrath, P., McGuffin, P., Medland, S.E., Mehta, D., Middeldorp, C.M., Mihailov, E., Milaneschi, Y., Milani, L., Mondimore, F.M., Montgomery, G.W., Mostafavi, S., Mullins, N., Nauck, M., Ng, B., Nivard, M.G., Nyholt, D.R., O'Reilly, P.F., Oskarsson, H., Owen, M.J., Painter, J.N., Peterson, R.E., Pettersson, E., Peyrot, W.J., Pistis, G., Posthuma, D., Quiroz, J.A., Rice, J.P., Riley, B.P., Rivera, M., Mirza, S.S., Schoevers, R., Schulte, E.C., Shen, L., Shi, J.X., Shyn, S.I., Sigurdsson, E., Sinnamon, G.C.B., Smit, J.H., Smith, D.J., Streit, F., Strohmaier, J., Tansey, K.E., Teismann, H., Teumer, A., Thompson, W., Thomson, P.A., Thorgeirsson, T.E., Traylor, M., Treutlein, J., Trubetskoy, V., Uitterlinden, A.G., Umbricht, D., Auwera, S. van der, Hemert, A.M. van, Viktorin, A., Visscher, P.M., Wang, Y.P., Webb, B.T., Weinsheimer, S.M., Wellmann, J., Willemsen, G., Witt, S.H., Wu, Y., Xi, H.S., Yang, J., Zhang, F.T., Arolt, V., Baune, B.T., Berger, K., Boomsma, D.I., Cichon, S., Dannlowski, U., Geus, E.J.C. de, DePaulo, J.R., Domenici, E., Domschke, K., Esko, T., Grabe, H.J., Hamilton, S.P., Hayward, C., Heath, A.C., Kendler, K.S., Kloiber, S., Lewis, G., Li, Q.S., Lucae, S., Madden, P.A.F., Magnusson, P.K., Martin, N.G., McIntosh, A.M., Metspalu, A., Muller-Myhsok, B., Nothen, M.M., O'Donovan, M.C., Paciga, S.A., Pedersen, N.L., Penninx, B.W.J.H., Perlis, R.H., Porteous, D.J., Potash, J.B., Preisig, M., Rietschel, M., Schaefer, C., Schulze, T.G., Smoller, J.W., Tiemeier, H., Uher, R., Volzke, H., Weissman, M.M., Lewis, C.M., Levinson, D.F., Breen, G., Agee, M., Alipanahi, B., Auton, A., Bell, R.K., Bryc, K., Elson, S.L., Fontanillas, P., Furlotte, N.A., Hromatka, B.S., Huber, K.E., Kleinman, A., Litterman, N.K., McIntyre, M.H., Mountain, J.L., Noblin, E.S., Northover, C.A.M., Pitts, S.J., Sathirapongsasuti, J.F., Sazonova, O.V., Shelton, J.F., Shringarpure, S., Tung, J.Y., Vacic, V., Wilson, C.H., Psychiat Genomics Consortium, BUPGEN, 23andMe Re, Biological Psychology, APH - Methodology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, APH - Mental Health, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, Adult Psychiatry, Psychiatry, Human genetics, Amsterdam Reproduction & Development (AR&D), VU University medical center, APH - Digital Health, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Perceptual and Cognitive Neuroscience (PCN), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium, BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Me Research Team, Epidemiology, and Child and Adolescent Psychiatry / Psychology

Subjects
Male, Netherlands Twin Register (NTR), Multifactorial Inheritance, Autism Spectrum Disorder, Denmark, LD SCORE REGRESSION, LOCI, Genome-wide association study, DE-NOVO, 0302 clinical medicine, Polymorphism (computer science), Risk Factors, SYNAPTIC PLASTICITY, CELL-SURFACE, Child, Genetics, 0303 health sciences, HERITABILITY, Genetic Predisposition to Disease/genetics, 1184 Genetics, developmental biology, physiology, Polymorphism, Single Nucleotide/genetics, Phenotype, 3. Good health, Schizophrenia, Autism spectrum disorder, Child, Preschool, Genome-Wide Association Study/methods, Female, SIMONS SIMPLEX COLLECTION, Adolescent, Biology, NEURITE OUTGROWTH, Polymorphism, Single Nucleotide, behavioral disciplines and activities, Article, 03 medical and health sciences, mental disorders, medicine, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, SDG 2 - Zero Hunger, Multifactorial Inheritance/genetics, METAANALYSIS, 030304 developmental biology, Case-control study, Heritability, medicine.disease, Autism Spectrum Disorder/genetics, Case-Control Studies, 3111 Biomedicine, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Published in final edited form as: Nat Genet. 2019 March ; 51(3): 431–444. doi:10.1038/s41588-019-0344-8., Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 ASD cases and 27,969 controls that identifies five genome-wide significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), seven additional loci shared with other traits are identified at equally strict significance levels. Dissecting the polygenic architecture, we find both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis and establish that GWAS performed at scale will be much more productive in the near term in ASD., The iPSYCH project is funded by the Lundbeck Foundation (grant numbers R102-A9118 and R155-2014-1724) and the universities and university hospitals of Aarhus and Copenhagen. Genotyping of iPSYCH and PGC samples was supported by grants from the Lundbeck Foundation, the Stanley Foundation, the Simons Foundation (SFARI 311789 to MJD), and NIMH (5U01MH094432–02 to MJD). The Danish National Biobank resource was supported by the Novo Nordisk Foundation. Data handling and analysis on the GenomeDK HPC facility was supported by NIMH (1U01MH109514–01 to M O’Donovan and ADB). High-performance computer capacity for handling and statistical analysis of iPSYCH data on the GenomeDK HPC facility was provided by the Centre for Integrative Sequencing, iSEQ, Aarhus University, Denmark (grant to ADB). Drs. S De Rubeis and JD Buxbaum were supported by NIH grants MH097849 (to JDB) and MH111661 (to JDB), and by the Seaver Foundation (to SDR and JDB). Dr J Martin was supported by the Wellcome Trust (grant no: 106047). O. Andreassen received funding from Research Council of Norway (#213694, #223273, #248980, #248778), Stiftelsen KG Jebsen and South-East Norway Health Authority. We thank the research participants and employees of 23andMe for making this work possible.

Published
2019

246. High spin states in121Te

Author

Singh, Jagbir, Kaur, Harjeet, Sharma, A., Goswamy, J., Mehta, D., Singh, Nirmal, Trehan, P. N., Paul, E. S., and Bhowmik, R. K.

Published
1996
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248. Genome-wide by environment interaction studies of depressive symptoms and psychosocial stress in UK Biobank and Generation Scotland

Author

Arnau-Soler, A., Macdonald-Dunlop, E., Adams, M.J., Clarke, T.K., MacIntyre, D.J., Milburn, K., Navrady, L., Hayward, C., McIntosh, A.M., Thomson, P.A., Wray, N.R., Ripke, S., Mattheisen, M., Trzaskowski, M., Byrne, E.M., Abdellaoui, A., Agerbo, E., Air, T.M., Andlauer, T.F.M., Bacanu, S.A., Baekvad-Hansen, M., Beekman, A.T.F., Bigdeli, T.B., Binder, E.B., Blackwood, D.H.R., Bryois, J., Buttenscon, H.N., Bybjerg-Grauholm, J., Cai, N., Castelao, E., Christensen, J.H., Coleman, J.R.I., Colodro-Conde, L., Couvy-Duchesne, B., Craddock, N., Rawford, G.E.C., Davies, G., Deary, I.J., Degenhardt, F., Derks, E.M., Direk, N., Dolan, C.V., Dunn, E.C., Eley, T.C., Escott-Price, V., Kiadeh, F.F.H., Finucane, H.K., Foo, J.C., Forstner, A.J., Frank, J., Gaspar, H.A., Gill, M., Goes, F.S., Gordon, S.D., Grove, J., Hall, L.S., Hansen, C.S., Hansen, T.F., Herms, S., Hickie, I.B., Hoffmann, P., Homuth, G., Horn, C., Hottenga, J.J., Hougaard, D.M., Ising, M., Jansen, R., Jones, I., Jones, L.A., Jorgenson, E., Knowles, J.A., Kohane, I.S., Kraft, J., Kretzschmar, W.W., Krogh, J., Kutalik, Z., Li, Y.H., Lind, P.A., Macintyre, D.J., MacKinnon, D.F., Maier, R.M., Maier, W., Marchini, J., Mbarek, H., McGrath, P., McGuffin, P., Medland, S.E., Mehta, D., Middeldorp, C.M., Mihailov, E., Milaneschi, Y., Milani, L., Mondimore, F.M., Montgomery, G.W., Mostafavi, S., Mullins, N., Nauck, M., Ng, B., Nivard, M.G., Nyholt, D.R., O'Reilly, P.F., Oskarsson, H., Owen, M.J., Painter, J.N., Pedersen, C.B., Pedersen, M.G., Peterson, R.E., Pettersson, E., Peyrot, W.J., Pistis, G., Posthuma, D., Quiroz, J.A., Qvist, P., Rice, J.P., Riley, B.P., Rivera, M., Mirza, S.S., Schoevers, R., Schulte, E.C., Shen, L., Shi, J.X., Shyn, S.I., Sigurdsson, E., Sinnamon, G.C.B., Smit, J.H., Smith, D.J., Stefansson, H., Steinberg, S., Streit, F., Strohmaier, J., Tansey, K.E., Teismann, H., Teumer, A., Thompson, W., Thorgeirsson, T.E., Traylor, M., Treutlein, J., Trubetskoy, V., Uitterlinden, A.G., Umbricht, D., Auwera, S. van der, Hemert, A.M. van, Viktorin, A., Visscher, P.M., Wang, Y.P., Webb, B.T., Weinsheimer, S.M., Wellmann, J., Willemsen, G., Witt, S.H., Wu, Y., Xi, H.L.S., Yang, J., Zhang, F.T., Arolt, V., Baune, B.T., Berger, K., Boomsma, D.I., Cichon, S., Dannlowski, U., Geus, E.J.C. de, DePaulo, J.R., Domenici, E., Domschke, K., Esko, T., Grabe, H.J., Hamilton, S.P., Heath, A.C., Kendler, K.S., Kloiber, S., Lewis, G., Li, Q.Q.S., Lucae, S., Madden, P.A.F., Magnusson, P.K., Martin, N.G., Metspalu, A., Mors, O., Mortensen, P.B., Muller-Myhsok, B., Nordentoft, M., Nothen, M.M., O'Donovan, M.C., Paciga, S.A., Pedersen, N.L., Penninx, B.W.J.H., Perlis, R.H., Porteous, D.J., Potash, J.B., Preisig, M., Rietschel, M., Schaefer, C., Schulze, T.G., Smoller, J.W., Stefansson, K., Tiemeier, H., Uher, R., Volzke, H., Weissman, M.M., Werge, T., Lewis, C.M., Levinson, D.F., Breen, G., Borglum, A.S.D., Sullivan, P.F., Generation Scotland, and Psychiat Genomics Consortium

Abstract

Stress is associated with poorer physical and mental health. To improve our understanding of this link, we performed genome-wide association studies (GWAS) of depressive symptoms and genome-wide by environment interaction studies (GWEIS) of depressive symptoms and stressful life events (SLE) in two UK population-based cohorts (Generation Scotland and UK Biobank). No SNP was individually significant in either GWAS, but gene-based tests identified six genes associated with depressive symptoms in UK Biobank (DCC, ACSS3, DRD2, STAG1, FOXP2 and KYNU; p < 2.77 x 10(-6)). Two SNPs with genome-wide significant GxE effects were identified by GWEIS in Generation Scotland: rs12789145 (53-kb downstream PIWIL4; p = 4.95 x 10(-9); total SLE) and rs17070072 (intronic to ZCCHC2; p = 1.46 x 10(-8); dependent SLE). A third locus upstream CYLC2 (rs12000047 and rs12005200, p < 2.00 x 10(-8); dependent SLE) when the joint effect of the SNP main and GxE effects was considered. GWEIS gene-based tests identified: MTNR1B with GxE effect with dependent SLE in Generation Scotland; and PHF2 with the joint effect in UK Biobank (p < 2.77 x 10(-6)). Polygenic risk scores (PRSs) analyses incorporating GxE effects improved the prediction of depressive symptom scores, when using weights derived from either the UK Biobank GWAS of depressive symptoms (p = 0.01) or the PGC GWAS of major depressive disorder (p = 5.91 x 10(-3)). Using an independent sample, PRS derived using GWEIS GxE effects provided evidence of shared aetiologies between depressive symptoms and schizotypal personality, heart disease and COPD. Further such studies are required and may result in improved treatments for depression and other stress-related conditions.

Published
2019

249. Evidence for increased genetic risk load for major depression in patients assigned to electroconvulsive therapy

Author

Foo, J.C., Streit, F., Frank, J., Witt, S.H., Treutlein, J., Baune, B.T., Moebus, S., Jockel, K.H., Forstner, A.J., Nothen, M.M., Rietschel, M., Sartorius, A., Kranaster, L., Wray, N.R., Ripke, S., Mattheisen, M., Trzaskowski, M., Byrne, E.M., Abdellaoui, A., Adams, M.J., Agerbo, E., Air, T.M., Andlauer, T.F.M., Bacanu, S.A., Baekvad-Hansen, M., Beekman, A.T.F., Bigdeli, T.B., Binder, E.B., Blackwood, D.H.R., Bryois, J., Buttenschon, H.N., Bybjerg-Grauholm, J., Cai, N., Castelao, E., Christensen, J.H., Clarke, T.K., Coleman, J.R.I., Colodro-Conde, L., Couvy-Duchesne, B., Craddock, N., Crawford, G.E., Davies, G., Deary, I.J., Degenhardt, F., Derks, E.M., Direk, N., Dolan, C.V., Dunn, E.C., Eley, T.C., Escott-Price, V., Kiadeh, F.F.H., Finucane, H.K., Gaspar, H.A., Gill, M., Goes, F.S., Gordon, S.D., Grove, J., Hall, L.S., Hansen, C.S., Hansen, T.F., Herms, S., Hickie, I.B., Hoffmann, P., Homuth, G., Horn, C., Hottenga, J.J., Hougaard, D.M., Ising, M., Jansen, R., Jones, I., Jones, L.A., Jorgenson, E., Knowles, J.A., Kohane, I.S., Kraft, J., Kretzschmar, W.W., Krogh, J., Kutalik, Z., Li, Y.H., Lind, P.A., MacIntyre, D.J., MacKinnon, D.F., Maier, R.M., Maier, W., Marchini, J., Mbarek, H., McGrath, P., McGuffin, P., Medland, S.E., Mehta, D., Middeldorp, C.M., Mihailov, E., Milaneschi, Y., Milani, L., Mondimore, F.M., Montgomery, G.W., Mostafavi, S., Mullins, N., Nauck, M., Ng, B., Nivard, M.G., Nyholt, D.R., O'Reilly, P.F., Oskarsson, H., Owen, M.J., Painter, J.N., Pedersen, C.B., Pedersen, M.G., Peterson, R.E., Pettersson, E., Peyrot, W.J., Pistis, G., Posthuma, D., Quiroz, J.A., Qvist, P., Rice, J.P., Riley, B.P., Rivera, M., Mirza, S.S., Schoevers, R., Schulte, E.C., Shen, L., Shi, J.X., Shyn, S.I., Sigurdsson, E., Sinnamon, G.C.B., Smit, J.H., Smith, D.J., Stefansson, H., Steinberg, S., Strohmaier, J., Tansey, K.E., Teismann, H., Teumer, A., Thompson, W., Thomson, P.A., Thorgeirsson, T.E., Traylor, M., Trubetskoy, V., Uitterlinden, A.G., Umbricht, D., Auwera, S. van der, Hemert, A.M. van, Viktorin, A., Visscher, P.M., Wang, Y., Webb, B.T., Weinsheimer, S.M., Wellmann, J., Willemsen, G., Wu, Y., Xi, H.L.S., Yang, J., Zhang, F.T., Arolt, V., Berger, K., Boomsma, D.I., Cichon, S., Dannlowski, U., Geus, E.J.C. de, DePaulo, J.R., Domenici, E., Domschke, K., Esko, T., Grabe, H.J., Hamilton, S.P., Hayward, C., Heath, A.C., Kendler, K.S., Kloiber, S., Lewis, G., Li, Q.Q.S., Lucae, S., Madden, P.A.F., Magnusson, P.K., Martin, N.G., McIntosh, A.M., Metspalu, A., Mors, O., Mortensen, P.B., Muller-Myhsok, B., Nordentoft, M., O'Donovan, M.C., Paciga, S.A., Pedersen, N.L., Penninx, B.W.J.H., Perlis, R.H., Porteous, D.J., Potash, J.B., Preisig, M., Schaefer, C., Schulze, T.G., Smoller, J.W., Stefansson, K., Tiemeier, H., Uher, R., Voelzke, H., Weissman, M.M., Werge, T., Lewis, C.M., Levinson, D.F., Breen, G., Borglum, A.D., Sullivan, P.F., and Major Depressive Disorder Worki

Subjects
treatment-resistance, polygenic risk scores, depression, major depression, electroconvulsive therapy
Abstract

Electroconvulsive therapy (ECT) is the treatment of choice for severe and treatment-resistantdepression; disorder severity and unfavorable treatment outcomes are shown to be influencedby an increased genetic burden for major depression (MD). Here, we tested whether ECT assign-ment and response/nonresponse are associated with an increased genetic burden for majordepression (MD) using polygenic risk score (PRS), which summarize the contribution of disease-related common risk variants. Fifty-one psychiatric inpatients suffering from a major depressiveepisode underwent ECT. MD-PRS were calculated for these inpatients and a separatepopulation-based sample (n = 3,547 healthy; n = 426 self-reported depression) based on sum-mary statistics from the Psychiatric Genomics Consortium MDD-working group (Cases:n = 59,851; Controls: n = 113,154). MD-PRS explained a significant proportion of disease statusbetween ECT patients and healthy controls (p = .022, R2 = 1.173%); patients showed higherMD-PRS. MD-PRS in population-based depression self-reporters were intermediate betweenECT patients and controls (n.s.). Significant associations between MD-PRS and ECT response(50% reduction in Hamilton depression rating scale scores) were not observed. Our findings indi-cate that ECT cohorts show an increased genetic burden for MD and are consistent with thehypothesis that treatment-resistant MD patients represent a subgroup with an increased geneticrisk for MD. Larger samples are needed to better substantiate these findings.

Published
2019

250. XNect: Real-time Multi-person 3D Human Pose Estimation with a Single RGB Camera

Author

Mehta, D., Sotnychenko, O., Mueller, F., Xu, W., Elgharib, M., Fua, P., Seidel, H., Rhodin, H., Pons-Moll, G., and Theobalt, C.

Subjects
ComputingMethodologies_IMAGEPROCESSINGANDCOMPUTERVISION
Abstract

We present a real-time approach for multi-person 3D motion capture at over 30 fps using a single RGB camera. It operates in generic scenes and is robust to difficult occlusions both by other people and objects. Our method operates in subsequent stages. The first stage is a convolutional neural network (CNN) that estimates 2D and 3D pose features along with identity assignments for all visible joints of all individuals. We contribute a new architecture for this CNN, called SelecSLS Net, that uses novel selective long and short range skip connections to improve the information flow allowing for a drastically faster network without compromising accuracy. In the second stage, a fully-connected neural network turns the possibly partial (on account of occlusion) 2D pose and 3D pose features for each subject into a complete 3D pose estimate per individual. The third stage applies space-time skeletal model fitting to the predicted 2D and 3D pose per subject to further reconcile the 2D and 3D pose, and enforce temporal coherence. Our method returns the full skeletal pose in joint angles for each subject. This is a further key distinction from previous work that neither extracted global body positions nor joint angle results of a coherent skeleton in real time for multi-person scenes. The proposed system runs on consumer hardware at a previously unseen speed of more than 30 fps given 512x320 images as input while achieving state-of-the-art accuracy, which we will demonstrate on a range of challenging real-world scenes.

Published
2019

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