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Associations of autozygosity with a broad range of human phenotypes.

TitleAssociations of autozygosity with a broad range of human phenotypes.
Publication TypeJournal Article
Year of Publication2019
AuthorsClark, DW, Okada, Y, Moore, KHS, Mason, D, Pirastu, N, Gandin, I, Mattsson, H, Barnes, CLK, Lin, K, Zhao, JH, Deelen, P, Rohde, R, Schurmann, C, Guo, X, Giulianini, F, Zhang, W, Medina-Gómez, C, Karlsson, R, Bao, Y, Bartz, TM, Baumbach, C, Biino, G, Bixley, MJ, Brumat, M, Chai, J-F, Corre, T, Cousminer, DL, Dekker, AM, Eccles, DA, van Eijk, KR, Fuchsberger, C, Gao, H, Germain, M, Gordon, SD, de Haan, HG, Harris, SE, Hofer, E, Huerta-Chagoya, A, Igartua, C, Jansen, IE, Jia, Y, Kacprowski, T, Karlsson, T, Kleber, ME, Li, SAlfred, Li-Gao, R, Mahajan, A, Matsuda, K, Meidtner, K, Meng, W, Montasser, ME, van der Most, PJ, Munz, M, Nutile, T, Palviainen, T, Prasad, G, Prasad, RB, Priyanka, TDivya Sri, Rizzi, F, Salvi, E, Sapkota, BR, Shriner, D, Skotte, L, Smart, MC, Smith, AVernon, van der Spek, A, Spracklen, CN, Strawbridge, RJ, Tajuddin, SM, Trompet, S, Turman, C, Verweij, N, Viberti, C, Wang, L, Warren, HR, Wootton, RE, Yanek, LR, Yao, J, Yousri, NA, Zhao, W, Adeyemo, AA, Afaq, S, Aguilar-Salinas, CAlberto, Akiyama, M, Albert, ML, Allison, MA, Alver, M, Aung, T, Azizi, F, Bentley, AR, Boeing, H, Boerwinkle, E, Borja, JB, de Borst, GJ, Bottinger, EP, Broer, L, Campbell, H, Chanock, S, Chee, M-L, Chen, G, Chen, Y-derI, Chen, Z, Chiu, Y-F, Cocca, M, Collins, FS, Concas, MPina, Corley, J, Cugliari, G, van Dam, RM, Damulina, A, Daneshpour, MS, Day, FR, Delgado, GE, Dhana, K, Doney, ASF, Dörr, M, Doumatey, AP, Dzimiri, N, S Ebenesersdóttir, S, Elliott, J, Elliott, P, Ewert, R, Felix, JF, Fischer, K, Freedman, BI, Girotto, G, Goel, A, Gögele, M, Goodarzi, MO, Graff, M, Granot-Hershkovitz, E, Grodstein, F, Guarrera, S, Gudbjartsson, DF, Guity, K, Gunnarsson, B, Guo, Y, Hagenaars, SP, Haiman, CA, Halevy, A, Harris, TB, Hedayati, M, van Heel, DA, Hirata, M, Höfer, I, Hsiung, CAgnes, Huang, J, Hung, Y-J, Ikram, AM, Jagadeesan, A, Jousilahti, P, Kamatani, Y, Kanai, M, Kerrison, ND, Kessler, T, Khaw, K-T, Khor, CChuen, de Kleijn, DPV, Koh, W-P, Kolcic, I, Kraft, P, Krämer, BK, Kutalik, Z, Kuusisto, J, Langenberg, C, Launer, LJ, Lawlor, DA, Lee, I-T, Lee, W-J, Lerch, MM, Li, L, Liu, J, Loh, M, London, SJ, Loomis, S, Lu, Y, Luan, J'an, Mägi, R, Manichaikul, AW, Manunta, P, Másson, G, Matoba, N, Mei, XW, Meisinger, C, Meitinger, T, Mezzavilla, M, Milani, L, Millwood, IY, Momozawa, Y, Moore, A, Morange, P-E, Moreno-Macias, H, Mori, TA, Morrison, AC, Muka, T, Murakami, Y, Murray, AD, de Mutsert, R, Mychaleckyj, JC, Nalls, MA, Nauck, M, Neville, MJ, Nolte, IM, Ong, KK, Orozco, L, Padmanabhan, S, Pálsson, G, Pankow, JS, Pattaro, C, Pattie, A, Polasek, O, Poulter, N, Pramstaller, PP, Quintana-Murci, L, Räikkönen, K, Ralhan, S, Rao, DC, van Rheenen, W, Rich, SS, Ridker, PM, Rietveld, CA, Robino, A, van Rooij, FJA, Ruggiero, D, Saba, Y, Sabanayagam, C, Sabater-Lleal, M, Sala, CFelicita, Salomaa, V, Sandow, K, Schmidt, H, Scott, LJ, Scott, WR, Sedaghati-Khayat, B, Sennblad, B, van Setten, J, Sever, PJ, Sheu, WH-H, Shi, Y, Shrestha, S, Shukla, SRahul, Sigurdsson, JK, Sikka, TTonis, Singh, JRup, Smith, BH, Stančáková, A, Stanton, A, Starr, JM, Stefansdottir, L, Straker, L, Sulem, P, Sveinbjornsson, G, Swertz, MA, Taylor, AM, Taylor, KD, Terzikhan, N, Tham, Y-C, Thorleifsson, G, Thorsteinsdottir, U, Tillander, A, Tracy, RP, Tusié-Luna, T, Tzoulaki, I, Vaccargiu, S, Vangipurapu, J, Veldink, JH, Vitart, V, Völker, U, Vuoksimaa, E, Wakil, SM, Waldenberger, M, Wander, GS, Wang, YXing, Wareham, NJ, Wild, S, Yajnik, CS, Yuan, J-M, Zeng, L, Zhang, L, Zhou, J, Amin, N, Asselbergs, FW, Bakker, SJL, Becker, DM, Lehne, B, Bennett, DA, van den Berg, LH, Berndt, SI, Bharadwaj, D, Bielak, LF, Bochud, M, Boehnke, M, Bouchard, C, Bradfield, JP, Brody, JA, Campbell, A, Carmi, S, Caulfield, MJ, Cesarini, D, Chambers, JC, Chandak, GRatan, Cheng, C-Y, Ciullo, M, Cornelis, M, Cusi, D, Smith, GD, Deary, IJ, Dorajoo, R, van Duijn, CM, Ellinghaus, D, Erdmann, J, Eriksson, JG, Evangelou, E, Evans, MK, Faul, JD, Feenstra, B, Feitosa, M, Foisy, S, Franke, A, Friedlander, Y, Gasparini, P, Gieger, C, Gonzalez, C, Goyette, P, Grant, SFA, Griffiths, LR, Groop, L, Gudnason, V, Gyllensten, U, Hakonarson, H, Hamsten, A, van der Harst, P, Heng, C-K, Hicks, AA, Hochner, H, Huikuri, H, Hunt, SC, Jaddoe, VWV, De Jager, PL, Johannesson, M, Johansson, A, Jonas, JB, J Jukema, W, Junttila, J, Kaprio, J, Kardia, SLR, Karpe, F, Kumari, M, Laakso, M, van der Laan, SW, Lahti, J, Laudes, M, Lea, RA, Lieb, W, Lumley, T, Martin, NG, März, W, Matullo, G, McCarthy, MI, Medland, SE, Merriman, TR, Metspalu, A, Meyer, BF, Mohlke, KL, Montgomery, GW, Mook-Kanamori, D, Munroe, PB, North, KE, Nyholt, DR, O'Connell, JR, Ober, C, Oldehinkel, AJ, Palmas, W, Palmer, C, Pasterkamp, GG, Patin, E, Pennell, CE, Perusse, L, Peyser, PA, Pirastu, M, Polderman, TJC, Porteous, DJ, Posthuma, D, Psaty, BM, Rioux, JD, Rivadeneira, F, Rotimi, C, Rotter, JI, Rudan, I, Ruijter, HM den, Sanghera, DK, Sattar, N, Schmidt, R, Schulze, MB, Schunkert, H, Scott, RA, Shuldiner, AR, Sim, X, Small, N, Smith, JA, Sotoodehnia, N, Tai, E-S, Teumer, A, Timpson, NJ, Toniolo, D, Trégouët, D-A, Tuomi, T, Vollenweider, P, Wang, CA, Weir, DR, Whitfield, JB, Wijmenga, C, Wong, T-Y, Wright, J, Yang, J, Yu, L, Zemel, BS, Zonderman, AB, Perola, M, Magnusson, PKE, Uitterlinden, AG, Kooner, JS, Chasman, DI, Loos, RJF, Franceschini, N, Franke, L, Haley, CS, Hayward, C, Walters, RG, Perry, JRB, Esko, T, Helgason, A, Stefansson, K, Joshi, PK, Kubo, M, Wilson, JF
JournalNat Commun
Volume10
Issue1
Pagination4957
Date Published2019 Oct 31
ISSN2041-1723
Abstract<p>In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (F) for >1.4 million individuals, we show that F is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: F equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44-66%] in the odds of having children. Finally, the effects of F are confirmed within full-sibling pairs, where the variation in F is independent of all environmental confounding.</p>
DOI10.1038/s41467-019-12283-6
Alternate JournalNat Commun
PubMed ID31673082
PubMed Central IDPMC6823371
ePub date: 
19/10