國家衛生研究院 NHRI:Item 3990099045/16217
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    题名: Rare variant contribution to the heritability of coronary artery disease
    作者: Rocheleau, G;Clarke, SL;Auguste, G;Hasbani, NR;Morrison, AC;Heath, AS;Bielak, LF;Iyer, KR;Young, EP;Stitziel, NO;Jun, G;Laurie, C;Broome, JG;Khan, AT;Arnett, DK;Becker, LC;Bis, JC;Boerwinkle, E;Bowden, DW;Carson, AP;Ellinor, PT;Fornage, M;Franceschini, N;Freedman, BI;Heard-Costa, NL;Hou, LF;Chen, YDI;Kenny, EE;Kooperberg, C;Kral, BG;Loos, RJF;Lutz, SM;Manson, JE;Martin, LW;Mitchell, BD;Nassir, R;Palmer, ND;Post, WS;Preuss, MH;Psaty, BM;Raffield, LM;Regan, EA;Rich, SS;Smith, JA;Taylor, KD;Yanek, LR;Young, KA;Anugu, P;Arnett, DK;Assimes, TL;Auer, P;Barwick, L;Becker, D;Becker, LC;Bielak, LF;Bis, JC;Boerwinkle, E;Bowden, DW;Broome, JG;Carson, AP;Carty, C;Castaldi, P;Chaffin, M;Chang, YC;Choi, SH;Chung, RH;Clarke, SL;Crandall, C;David, S;de las Fuentes, L;Deka, R;DeMeo, D;de Vries, PS;Do, R;Duan, Q;Eaton, C;Eaton, C;El Boueiz, A;Ellinor, PT;Fornage, M;Franceschini, N;Freedman, BI;Gao, SS;Gao, Y;Gass, M;Ghosh, A;Grine, D;Hall, M;Hasbani, NR;Heard-Costa, NL;Heath, AS;Hersh, C;Hobbs, B;Hou, LF;Hsiung, CA;Hung, YJ;Huston, H;Hwu, CM;Chen, YDI;Iyer, KR;Jackson, R;Johnsen, J;Jun, G;Kenny, EE;Khan, AT;Kooperberg, C;Kral, BG;Lange, C;Lange, E;Laurie, C;LeBoff, M;Lee, WJ;Li, Y;Liu, S;Liu, Y;Loos, RJF;Lutz, SM;Manson, JE;Martin, LW;Mathai, S;Mei, H;Miller, CL;Mitchell, BD;Morrison, AC;Naik, R;Naseri, T;Nassir, R;Neltner, B;Ochs-Balcom, H;Paik, DT;Palmer, ND;Parker, C;Perez, M;Peters, U;Peyser, PA;Phillips, LS;Post, WS;Becker, JP;Preuss, MH;Psaty, BM;Raffield, LM;Regan, EA;Reupena, MS;Rich, SS;Rocheleau, G;Roselli, C;Rotter, JI;Russell, P;Sabino, EC;Sandow, K;Schwander, K;Sciurba, F;Silver, B;Smith, JA;Smoller, S;Snively, B;Stitziel, NO;Storm, G;Sung, YJ;Tang, H;Taub, M;Taylor, KD;Tinker, L;Tirschwell, D;Tiwari, H;Vaidya, D;Vasan, RS;Walker, T;Wallace, R;Walts, A;Weng, LC;Yanek, LR;Yang, I;Young, EP;Young, KA;Zhao, SX;Hilliard, AT;Tcheandjieu, C;Peyser, PA;Vasan, RS;Rotte, JI;Miller, CL;Assimes, TL;de Vries, PS;Do, R
    贡献者: Institute of Population Health Sciences
    摘要: Whole genome sequences (WGS) enable discovery of rare variants which may contribute to missing heritability of coronary artery disease (CAD). To measure their contribution, we apply the GREML-LDMS-I approach to WGS of 4949 cases and 17,494 controls of European ancestry from the NHLBI TOPMed program. We estimate CAD heritability at 34.3% assuming a prevalence of 8.2%. Ultra-rare (minor allele frequency <= 0.1%) variants with low linkage disequilibrium (LD) score contribute similar to 50% of the heritability. We also investigate CAD heritability enrichment using a diverse set of functional annotations: i) constraint; ii) predicted protein-altering impact; iii) cis-regulatory elements from a cell-specific chromatin atlas of the human coronary; and iv) annotation principal components representing a wide range of functional processes. We observe marked enrichment of CAD heritability for most functional annotations. These results reveal the predominant role of ultra-rare variants in low LD on the heritability of CAD. Moreover, they highlight several functional processes including cell type-specific regulatory mechanisms as key drivers of CAD genetic risk.
    日期: 2024-10-09
    關聯: Nature Communications. 2024 Oct 09;15:Article number 8741.
    Link to: http://dx.doi.org/10.1038/s41467-024-52939-6
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:001335963600006
    Cited Times(Scopus): https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85206007652
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