國家衛生研究院 NHRI:Item 3990099045/15385
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    题名: Whole genome sequencing analysis of body mass index identifies novel african ancestry-specific risk allele
    作者: Zhang, X;Brody, JA;Graff, M;Highland, HM;Chami, N;Xu, H;Wang, Z;Ferrier, K;Chittoor, G;Josyula, NS;Li, X;Li, Z;Allison, MA;Becker, DM;Bielak, LF;Bis, JC;Boorgula, MP;Bowden, DW;Broome, JG;Buth, EJ;Carlson, CS;Chang, KM;Chavan, S;Chiu, YF;Chuang, LM;Conomos, MP;DeMeo, DL;Du, M;Duggirala, R;Eng, C;Fohner, AE;Freedman, BI;Garrett, ME;Guo, X;Haiman, C;Heavner, BD;Hidalgo, B;Hixson, JE;Ho, YL;Hobbs, BD;Hu, D;Hui, Q;Hwu, CM;Jackson, RD;Jain, D;Kalyani, RR;Kardia, SLR;Kelly, TN;Lange, EM;LeNoir, M;Li, C;Marchand, LL;McDonald, MN;McHugh, CP;Morrison, AC;Naseri, T;O'Connell, J;O'Donnell, CJ;Palmer, ND;Pankow, JS;Perry, JA;Peters, U;Preuss, MH;Rao, DC;Regan, EA;Reupena, SM;Roden, DM;Rodriguez-Santana, J;Sitlani, CM;Smith, JA;Tiwari, HK;Vasan, RS;Wang, Z;Weeks, DE;Wessel, J;Wiggins, KL;Wilkens, LR;Wilson, PWF;Yanek, LR;Yoneda, ZT;Zhao, W;Zöllner, S;Arnett, DK;Ashley-Koch, AE;Barnes, KC;Blangero, J;Boerwinkle, E;Burchard, EG;Carson, AP;Chasman, DI;Chen, YI;Curran, JE;Fornage, M;Gordeuk, VR;He, J;Heckbert, SR;Hou, L;Irvin, MR;Kooperberg, C;Minster, RL, .;et al.
    贡献者: Institute of Population Health Sciences
    摘要: Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass index (BMI) have largely relied on imputed data from European individuals. This study leveraged whole-genome sequencing (WGS) data from 88,873 participants from the Trans-Omics for Precision Medicine (TOPMed) Program, of which 51% were of non-European population groups. We discovered 18 BMI-associated signals (P < 5 × 10(-9)). Notably, we identified and replicated a novel low frequency single nucleotide polymorphism (SNP) in MTMR3 that was common in individuals of African descent. Using a diverse study population, we further identified two novel secondary signals in known BMI loci and pinpointed two likely causal variants in the POC5 and DMD loci. Our work demonstrates the benefits of combining WGS and diverse cohorts in expanding current catalog of variants and genes confer risk for obesity, bringing us one step closer to personalized medicine.
    日期: 2023-08-22
    關聯: medRxiv. 2023 Aug 22;Article in Press.
    Link to: http://dx.doi.org/10.1101/2023.08.21.23293271
    显示于类别:[邱燕楓] 期刊論文

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