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首页> 外文期刊>Annals of Human Genetics >Genetic Variants Associated with von Willebrand Factor Levels in Healthy Men and Women Identified Using the HumanCVD BeadChip
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Genetic Variants Associated with von Willebrand Factor Levels in Healthy Men and Women Identified Using the HumanCVD BeadChip

机译：使用HumanCVD BeadChip鉴定的健康男性和女性中与von Willebrand因子水平相关的遗传变异

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We have used the gene-centric Illumina HumanCVD BeadChip to identify common genetic determinants of Von Willebrand factor (vWF) levels in healthy men and women. The Whitehall II (WHII) study (n= 5592) and the British Women's Heart and Health Study (BWHHS) (n= 3445) were genotyped using the HumanCVD BeadChip. Replication was conducted in the British Regional Heart Study (n= 3897) and 1958 Birth Cohort (n= 5048). We identified 48 single nucleotide polymorphisms (SNPs) in four genes/regions associated with vWF at P 10 -4. These included 19 SNPs at the ABO blood group locus with the lead variant being rs657152 (P= 9.7 × 10 -233). The lead variant in the 24 VWF SNPs was rs1063856 (P= 2.3 × 10 -20). SNPs at ESR1 (rs6909023) and NRG1(rs1685103) showed modest associations with vWF, but these were not confirmed in a meta-analysis. Using variable selection, five SNPs at the locus for ABO and two for VWF were found to have independent associations with vWF levels. After adjustment for age and gender, the selected ABO SNPs explained 15% and the VWF SNPs an additional 2% of the variance in vWF levels. Individuals at opposite tails of the additive seven SNP allele score exhibited substantial differences in vWF levels. These data demonstrate that multiple common alleles with small effects make, in combination, important contributions to individual differences in vWF levels.
机译：我们已经使用以基因为中心的Illumina HumanCVD BeadChip来鉴定健康男性和女性中Von Willebrand因子（vWF）水平的常见遗传决定因素。使用HumanCVD BeadChip对Whitehall II（WHII）研究（n = 5592）和英国女性心脏与健康研究（BWHHS）（n = 3445）进行基因分型。在英国地区心脏研究（n = 3897）和1958年出生队列（n = 5048）中进行了复制。我们在与vWF相关的四个基因/区域中，在P <10 -4处确定了48个单核苷酸多态性（SNP）。其中包括ABO血型位点的19个SNP，其主要变异为rs657152（P = 9.7×10 -233）。 24个VWF SNP中的前导变异为rs1063856（P = 2.3×10 -20）。 ESR1（rs6909023）和NRG1（rs1685103）的SNP与vWF之间存在适度的关联，但在荟萃分析中未得到证实。使用变量选择，发现ABO和VWF两个基因座上的五个SNP与vWF水平具有独立的关联。在调整了年龄和性别之后，选定的ABO SNP解释了15％，VWF SNP解释了vWF水平差异的另外2％。在累加的七个SNP等位基因得分的相对尾部的个体在vWF水平上显示出实质性差异。这些数据表明，多个共同的，影响较小的等位基因共同为vWF水平的个体差异做出了重要贡献。

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