Genome-wide association study of vitamin D concentrations in Hispanic Americans: the IRAS family study.
Genome-wide association study of vitamin D concentrations in Hispanic Americans: the IRAS family study.
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DOI：
10.1016/j.jsbmb.2010.06.013
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发表时间：
2010-10
影响因子：
4.1
通讯作者：
Norris, Jill M.
中科院分区：
文献类型：
--
作者：
Engelman, Corinne D.;Meyers, Kristin J.;Ziegler, Julie T.;Taylor, Kent D.;Palmer, Nicholette D.;Haffner, Steven M.;Fingerlin, Tasha E.;Wagenknecht, Lynne E.;Rotter, Jerome I.;Bowden, Donald W.;Langefeld, Carl D.;Norris, Jill M.
维生素D缺乏与许多不良健康结果有关。有几个已经确定的维生素D浓度的环境预测因素，然而对维生素D浓度的遗传决定因素的研究还处于起步阶段。我们的目标是在229名西班牙裔受试者中进行25-羟基维生素D （25[OH]D）和1,25-二羟基维生素D （1,25[OH]2D）浓度的试点全基因组关联（GWA）研究，随后对来自德克萨斯州圣安东尼奥和科罗拉多州圣路易斯谷的1,190名西班牙裔受试者的整个样本进行50个单核苷酸多态性（snp）的复制基因分型。在满足所有质量控制标准的309,200个snp中，3个高连锁不平衡（LD） snp与1,25[OH]2D （rs6680429、rs9970802和rs10889028）在Bonferroni校正的p值阈值为1.62 × 10−7上显著相关，但没有一个符合25[OH]D的阈值。在选择的50个snp中，25[OH] D的5个snp （rs2806508、rs10141935、rs4778359、rs1507023和rs9937918）和25[OH]2D的8个snp （rs6680429、rs1348864、rs4559029、rs12667374、rs7781309、rs10505337、rs2486443和rs2154175）在整个西班牙裔样本中重复（P < 0.01）。总之，我们确定了几个与西班牙裔维生素D代谢物浓度相关的snp。这些候选多态性值得在独立人群和其他种族中进一步研究。
Vitamin D deficiency is associated with many adverse health outcomes. There are several well established environmental predictors of vitamin D concentrations, yet studies of the genetic determinants of vitamin D concentrations are in their infancy. Our objective was to conduct a pilot genome-wide association (GWA) study of 25-hydroxyvitamin D (25[OH]D) and 1,25-dihydroxyvitamin D (1,25[OH]2D) concentrations in a subset of 229 Hispanic subjects, followed by replication genotyping of 50 single nucleotide polymorphisms (SNPs) in the entire sample of 1,190 Hispanics from San Antonio, Texas and San Luis Valley, Colorado. Of the 309,200 SNPs that met all quality control criteria, three SNPs in high linkage disequilibrium (LD) with each other were significantly associated with 1,25[OH]2D (rs6680429, rs9970802, and rs10889028) at a Bonferroni corrected P-value threshold of 1.62 × 10−7, however none met the threshold for 25[OH]D. Of the 50 SNPs selected for replication genotyping, five for 25[OH]D (rs2806508, rs10141935, rs4778359, rs1507023, and rs9937918) and eight for 1,25[OH]2D (rs6680429, rs1348864, rs4559029, rs12667374, rs7781309, rs10505337, rs2486443, and rs2154175) were replicated in the entire sample of Hispanics (P < 0.01). In conclusion, we identified several SNPs that were associated with vitamin D metabolite concentrations in Hispanics. These candidate polymorphisms merit further investigation in independent populations and other ethnicities.
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DOI：
10.1038/nrg2760
发表时间：
2010-05
期刊：
Nature reviews. Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
3.5
作者：
Ahn J;Yu K;Stolzenberg-Solomon R;Simon KC;McCullough ML;Gallicchio L;Jacobs EJ;Ascherio A;Helzlsouer K;Jacobs KB;Li Q;Weinstein SJ;Purdue M;Virtamo J;Horst R;Wheeler W;Chanock S;Hunter DJ;Hayes RB;Kraft P;Albanes D
通讯作者：
Albanes D
影响因子：
30.8
作者：
Arking, Dan E.;Pfeufer, Arne;Chakravarti, Aravinda
通讯作者：
Chakravarti, Aravinda
影响因子：
7.7
作者：
Rich, SS;Bowden, DW;Bergmans, RN
通讯作者：
Bergmans, RN
影响因子：
9.8
作者：
O'Connell, JR;Weeks, DE
通讯作者：
Weeks, DE