Genetic Variation in 9p21 and the Plasma Proteome,Journal of Proteome Research

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Genetic Variation in 9p21 and the Plasma Proteome
Journal of Proteome Research ( IF 3.8 ) Pub Date : 2018-07-19 , DOI: 10.1021/acs.jproteome.8b00117
Sara Mahdavi ₁ , David J. A. Jenkins _{1,

2,

3} , Christoph H. Borchers _{4,

5,

6,

7} , Ahmed El-Sohemy ₁

Affiliation

Single nucleotide polymorphisms (SNPs) in the noncoding region of 9p21 have been associated with cardiovascular disease (CVD), but the mechanisms by which these genetic variants contribute to the pathogenesis of CVD remain unknown since no annotated proteins are present in this region of DNA. The objective of the current study was to determine if 9p21 genotypes are associated with distinct plasma proteins in young adults. Subjects were 1611 young adults aged 20–29 years from the Toronto Nutrigenomics and Health Study (1098 females and 513 males). DNA was isolated from fasting blood to analyze four SNPs in 9p21 (rs2383206, rs10757274, rs10757278, and rs1333049). Abundant plasma proteins (n = 54) were measured using liquid chromatography multiple reaction monitoring mass spectrometry. Analysis of covariance was used to determine differences in plasma proteins between genotypes. In Caucasians (n = 524), four SNPs were associated with apolipoprotein E and two with haptoglobin-β-chain concentration. In East Asians (n = 388), three SNPs were associated with α-1b-Glycoprotein, two with apolipoprotein B-100, one with apolipoprotein E and one with haptoglobin-β-chain concentration. In South Asians (n = 117), one SNP was associated with apolipoprotein B-100 concentration. Our findings suggest that 9p21 genotypes may play a role in various pathophysiological pathways that contribute to risk of CVD in early adulthood that might be distinct among different ethnocultural groups.

中文翻译：

9p21和血浆蛋白质组中的遗传变异。

9p21非编码区中的单核苷酸多态性（SNP）与心血管疾病（CVD）相关，但是这些遗传变异促成CVD发病机理的机制仍然未知，因为在该DNA区域中没有注释蛋白。当前研究的目的是确定9p21基因型是否与年轻人中不同的血浆蛋白相关。受试者是《多伦多营养基因与健康研究》的1611名20-29岁的年轻人（1098名女性和513名男性）。从空腹血液中分离DNA，以分析9p21中的四个SNP（rs2383206，rs10757274，rs10757278和rs1333049）。丰富的血浆蛋白（n＝ 54）使用液相色谱多反应监测质谱法测量。使用协方差分析来确定基因型之间血浆蛋白的差异。在高加索人中（n = 524），四个SNP与载脂蛋白E相关，两个与触觉珠蛋白-β链浓度相关。在东亚人（n = 388）中，三个SNP与α-1b-糖蛋白相关，两个与载脂蛋白B-100相关，一个与载脂蛋白E相关，一个与触珠蛋白-β链浓度相关。在南亚裔人士（ñ= 117），其中一种SNP与载脂蛋白B-100浓度相关。我们的发现表明9p21基因型可能在多种病理生理途径中起作用，这些途径可能导致成年早期发生CVD的风险，这在不同的民族文化群体之间可能是不同的。

更新日期：2018-07-20

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