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Page 1
Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height.
Hawkes G, Beaumont RN, Li Z, Mandla R, Li X, Albert CM, Arnett DK, Ashley-Koch AE, Ashrani AA, Barnes KC, Boerwinkle E, Brody JA, Carson AP, Chami N, Chen YI, Chung MK, Curran JE, Darbar D, Ellinor PT, Fornage M, Gordeuk VR, Guo X, He J, Hwu CM, Kalyani RR, Kaplan R, Kardia SLR, Kooperberg C, Loos RJF, Lubitz SA, Minster RL, Naseri T, Viali S, Mitchell BD, Murabito JM, Palmer ND, Psaty BM, Redline S, Shoemaker MB, Silverman EK, Telen MJ, Weiss ST, Yanek LR, Zhou H; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Liu CT, North KE, Justice AE, Locke JM, Owens N, Murray A, Patel K, Frayling TM, Wright CF, Wood AR, Lin X, Manning A, Weedon MN. Hawkes G, et al. Among authors: viali s. Nat Commun. 2024 Oct 3;15(1):8549. doi: 10.1038/s41467-024-52579-w. Nat Commun. 2024. PMID: 39362880 Free PMC article.
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes.
Keener R, Chhetri SB, Connelly CJ, Taub MA, Conomos MP, Weinstock J, Ni B, Strober B, Aslibekyan S, Auer PL, Barwick L, Becker LC, Blangero J, Bleecker ER, Brody JA, Cade BE, Celedon JC, Chang YC, Cupples LA, Custer B, Freedman BI, Gladwin MT, Heckbert SR, Hou L, Irvin MR, Isasi CR, Johnsen JM, Kenny EE, Kooperberg C, Minster RL, Naseri T, Viali S, Nekhai S, Pankratz N, Peyser PA, Taylor KD, Telen MJ, Wu B, Yanek LR, Yang IV, Albert C, Arnett DK, Ashley-Koch AE, Barnes KC, Bis JC, Blackwell TW, Boerwinkle E, Burchard EG, Carson AP, Chen Z, Chen YI, Darbar D, de Andrade M, Ellinor PT, Fornage M, Gelb BD, Gilliland FD, He J, Islam T, Kaab S, Kardia SLR, Kelly S, Konkle BA, Kumar R, Loos RJF, Martinez FD, McGarvey ST, Meyers DA, Mitchell BD, Montgomery CG, North KE, Palmer ND, Peralta JM, Raby BA, Redline S, Rich SS, Roden D, Rotter JI, Ruczinski I, Schwartz D, Sciurba F, Shoemaker MB, Silverman EK, Sinner MF, Smith NL, Smith AV, Tiwari HK, Vasan RS, Weiss ST, Williams LK, Zhang Y, Ziv E, Raffield LM, Reiner AP; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Hematology and Hemostasis Working Group; TOPMed Structural Variation Working Group; Arvanitis M, G… See abstract for full author list ➔ Keener R, et al. Among authors: viali s. Nat Commun. 2024 May 24;15(1):4417. doi: 10.1038/s41467-024-48394-y. Nat Commun. 2024. PMID: 38789417 Free PMC article.
A thrifty variant in CREBRF strongly influences body mass index in Samoans.
Minster RL, Hawley NL, Su CT, Sun G, Kershaw EE, Cheng H, Buhule OD, Lin J, Reupena MS, Viali S, Tuitele J, Naseri T, Urban Z, Deka R, Weeks DE, McGarvey ST. Minster RL, et al. Among authors: viali s. Nat Genet. 2016 Sep;48(9):1049-1054. doi: 10.1038/ng.3620. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455349 Free PMC article.
CREBRF missense variant rs373863828 has both direct and indirect effects on type 2 diabetes and fasting glucose in Polynesian peoples living in Samoa and Aotearoa New Zealand.
Russell EM, Carlson JC, Krishnan M, Hawley NL, Sun G, Cheng H, Naseri T, Reupena MS, Viali S, Tuitele J, Major TJ, Miljkovic I, Merriman TR, Deka R, Weeks DE, McGarvey ST, Minster RL. Russell EM, et al. Among authors: viali s. BMJ Open Diabetes Res Care. 2022 Feb;10(1):e002275. doi: 10.1136/bmjdrc-2021-002275. BMJ Open Diabetes Res Care. 2022. PMID: 35144939 Free PMC article.
Discordant association of the CREBRF rs373863828 A allele with increased BMI and protection from type 2 diabetes in Māori and Pacific (Polynesian) people living in Aotearoa/New Zealand.
Krishnan M, Major TJ, Topless RK, Dewes O, Yu L, Thompson JMD, McCowan L, de Zoysa J, Stamp LK, Dalbeth N, Harré Hindmarsh J, Rapana N, Deka R, Eng WWH, Weeks DE, Minster RL, McGarvey ST, Viali S, Naseri T, Sefuiva Reupena M, Wilcox P, Grattan D, Shepherd PR, Shelling AN, Murphy R, Merriman TR. Krishnan M, et al. Among authors: viali s. Diabetologia. 2018 Jul;61(7):1603-1613. doi: 10.1007/s00125-018-4623-1. Epub 2018 May 2. Diabetologia. 2018. PMID: 29721634 Free PMC article.
The protective effect of rs373863828 on type 2 diabetes does not operate through a body composition pathway in adult Samoans.
Hawley NL, Duckham RL, Carlson JC, Naseri T, Reupena MS, Lameko V, Pomer A, Wetzel A, Selu M, Lupematisila V, Unasa F, Vesi L, Fatu T, Unasa S, Faasalele-Savusa K, Rivara AC, Russell E, Delany JP, Viali S, Kershaw EE, Minster RL, Weeks DE, McGarvey ST. Hawley NL, et al. Among authors: viali s. Obesity (Silver Spring). 2022 Dec;30(12):2468-2476. doi: 10.1002/oby.23559. Epub 2022 Oct 25. Obesity (Silver Spring). 2022. PMID: 36284436 Free PMC article.
64 results