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E-选择素基因常见错义单核苷酸多态性与汉族人群的原发性高血压显著相关,但与维吾尔族人群的相关性较弱。

A common missense single nucleotide polymorphism in the E-selectin gene is significantly associated with essential hypertension in the Han population but only weakly associated in the Uygur population.

机构信息

The Department of Cardiology, The First Affiliated Hospital, Shihezi Medical College, Shihezi University, Xingjiang, PR China.

出版信息

Hypertens Res. 2012 Apr;35(4):413-7. doi: 10.1038/hr.2011.204. Epub 2011 Dec 8.

Abstract

Experimental and clinical observations suggest that E-selectin could have an important role in essential hypertension (EH), but the relationship between common E-selectin variants and EH has not been extensively studied in the Chinese population. In this study, we explored the association between two common variants in the E-selectin gene (rs5361A/C and rs5355C/T) and EH in the Uygur, Kazakh and Han populations in the Xinjiang area. A case-control study was conducted to explore the association between these two single-nucleotide polymorphisms and EH in a large sample size, including 941 EH subjects (309 Uygur, 264 Kazakh and 368 Han individuals) and 924 control subjects (300 Uygur, 275 Kazakh and 349 Han individuals). Univariate analysis showed that the rs5361 A/C polymorphism was significantly associated with EH in the Uygur (P=0.002) and Han (P=3.6 × 10(-7)) populations. The CC genotype of this SNP was present only in patients with EH in all of the three nationalities studied. Han individuals who carry the CC genotype of rs5361 were more susceptible to EH, according to the dominant models (P=1.13 × 10(-4), odds ratio=3.812, 95% confidence interval: 1.685-7.792), but there was no association of genotype with EH for the other ethnicities. No significant difference in rs5355 C/T polymorphism rate was found between the EH and control groups. Our results indicate that the common variant rs5361 is strongly associated with EH in Han individuals and weakly associated in Uygur individuals. The CC genotype of rs5361 might be an independent risk factor for EH among Uygur, Kazakh and Han individuals in the Xinjiang area.

摘要

实验和临床观察表明,E-选择素在原发性高血压(EH)中可能具有重要作用,但在中国人群中,常见的 E-选择素变体与 EH 之间的关系尚未得到广泛研究。在这项研究中,我们探讨了 E 选择素基因中两个常见变体(rs5361A/C 和 rs5355C/T)与新疆维吾尔族、哈萨克族和汉族人群 EH 之间的关系。采用病例对照研究方法,在大样本量中探讨了这两个单核苷酸多态性与 EH 的关系,包括 941 例 EH 患者(维吾尔族 309 例,哈萨克族 264 例,汉族 368 例)和 924 例对照(维吾尔族 300 例,哈萨克族 275 例,汉族 349 例)。单变量分析显示,rs5361A/C 多态性与维吾尔族(P=0.002)和汉族(P=3.6×10(-7))人群的 EH 显著相关。在所有研究的三个民族中,仅在 EH 患者中存在该 SNP 的 CC 基因型。汉族人群中,rs5361 的 CC 基因型携带者更易患 EH,根据显性模型(P=1.13×10(-4),优势比=3.812,95%置信区间:1.685-7.792),但其他民族的基因型与 EH 无相关性。rs5355C/T 多态性率在 EH 组和对照组之间无显著差异。我们的研究结果表明,常见变体 rs5361 与汉族人群的 EH 密切相关,与维吾尔族人群的 EH 弱相关。rs5361 的 CC 基因型可能是新疆维吾尔族、哈萨克族和汉族人群 EH 的独立危险因素。

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