Bivariate genome-wide association analyses identified genetic pleiotropic effects for bone mineral density and alcohol drinking in Caucasians.
Bivariate genome-wide association analyses identified genetic pleiotropic effects for bone mineral density and alcohol drinking in Caucasians.
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双变量全基因组关联分析确定了白种人骨矿物质密度和饮酒的遗传多效性效应。
DOI：
10.1007/s00774-016-0802-7
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发表时间：
2017-11
影响因子：
3.3
通讯作者：
Deng HW
中科院分区：
文献类型：
--
作者：
Lu S;Zhao LJ;Chen XD;Papasian CJ;Wu KH;Tan LJ;Wang ZE;Pei YF;Tian Q;Deng HW
一些研究表明，骨矿物质密度（BMD）和酒精摄入量可能有共同的遗传因素。该研究旨在探索在全基因组水平上与美国高加索人两种表型相关的潜在SNP/基因。在2069名无关参与者中进行了双变量全基因组关联研究（GWAS）。定期饮酒分为1、2、3、4、5或6级，分别代表每周从不饮酒、少于1次、1次或2次、3至6次、7至10次或10次以上。测量髋关节、脊柱和全身BMD。基于双变量线性回归模型进行双变量GWAS。在男性和女性亚组中进行了性别分层关联分析。在男性中，DYNC 2 H1的SNP rs685395与双变量脊柱BMD和饮酒检测到最显著的关联信号（P = 1.94 × 10−8）。SNP rs685395和其他5个SNP rs657752、rs614902、rs682851、rs626330和rs689295位于DYNC 2 H1的同一单倍型块中，是男性双变量GWAS中前10个最显著的SNP。此外，男性GRIK 4中的两个SNP和女性OPRM 1中的三个SNP与BMD（髋关节，脊柱和全身）和饮酒相关。IL 1 RN中的9个SNPs仅与女性全身BMD和饮酒相关。我们的研究表明，DYNC 2 H1可能有助于男性高加索人脊柱BMD和饮酒的遗传机制。此外，我们的研究表明，OPRM 1和IL 1 RN在女性和GRIK 4在男性的潜在多效性作用的BMD和饮酒的变化。
Several studies indicated bone mineral density (BMD) and alcohol intake might share common genetic factors. The study aimed to explore potential SNPs/genes related to both phenotypes in US Caucasians at the genome-wide level. A bivariate genome-wide association study (GWAS) was performed in 2069 unrelated participants. Regular drinking was graded as 1, 2, 3, 4, 5, or 6, representing drinking alcohol never, less than once, once or twice, three to six times, seven to ten times, or more than ten times per week respectively. Hip, spine, and whole body BMDs were measured. The bivariate GWAS was conducted on the basis of a bivariate linear regression model. Sex-stratified association analyses were performed in the male and female subgroups. In males, the most significant association signal was detected in SNP rs685395 in DYNC2H1 with bivariate spine BMD and alcohol drinking (P = 1.94 × 10−8). SNP rs685395 and five other SNPs, rs657752, rs614902, rs682851, rs626330, and rs689295, located in the same haplotype block in DYNC2H1 were the top ten most significant SNPs in the bivariate GWAS in males. Additionally, two SNPs in GRIK4 in males and three SNPs in OPRM1 in females were suggestively associated with BMDs (of the hip, spine, and whole body) and alcohol drinking. Nine SNPs in IL1RN were only suggestively associated with female whole body BMD and alcohol drinking. Our study indicated that DYNC2H1 may contribute to the genetic mechanisms of both spine BMD and alcohol drinking in male Caucasians. Moreover, our study suggested potential pleiotropic roles of OPRM1 and IL1RN in females and GRIK4 in males underlying variation of both BMD and alcohol drinking.
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影响因子：
1.9
作者：
Pei YF;Zhang L;Liu J;Deng HW
通讯作者：
Deng HW
影响因子：
3.7
作者：
Ocbina PJ;Tuson M;Anderson KV
通讯作者：
Anderson KV
影响因子：
9.8
作者：
Huber, Celine;Wu, Sulin;Cormier-Daire, Valerie
通讯作者：
Cormier-Daire, Valerie
影响因子：
4.2
作者：
Berney, A;Preisig, M;Fenton, BT
通讯作者：
Fenton, BT
影响因子：
9.8
作者：
Allison, DB;Thiel, B;Schork, NJ
通讯作者：
Schork, NJ