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血小板激活因子受体基因 rs5938(G/T)和 rs313152(T/C)多态性与汉族人群冠心病及血瘀证的相关性。

Association of platelet-activating factor receptor gene rs5938 (G/T) and rs313152 (T/C) polymorphisms with coronary heart disease and blood stasis syndrome in a Chinese Han population.

机构信息

College of Health Information Technology and Management, Shanghai University of Medicine and Health Sciences, Shanghai, 201318, China.

Department of Cardiologic Medicine, The Second People's Hospital of Fujian Province, Fuzhou, 350007, China.

出版信息

Chin J Integr Med. 2017 Dec;23(12):893-900. doi: 10.1007/s11655-017-2802-4. Epub 2017 Feb 15.

Abstract

OBJECTIVE

To explore the association of the platelet-activating factor receptor (PAFR) gene rs5938, rs313152 and rs76744145 polymorphisms with coronary heart disease (CHD) and blood stasis syndrome (BSS) of CHD in Chinese Han population.

METHODS

A total of 570 CHD patients (299 with BSS and 271 with non-BSS) and 317 controls were enrolled. The PAFR gene rs5938, rs313152 and rs76744145 polymorphisms were genotyped using the multiplex SNaPshot technology. The statistical analysis was conducted using a multiple variable logistic regression model.

RESULTS

Significant differences were detected in the genotypes frequency distributions of the rs5938 (P<0.01), but not the rs313152 (P>0.05), between the controls and CHD patients. Individuals with an rs5938 or rs313152 mutated allele had a low risk for CHD [adjusted odds ratio (aOR)=0.35, 95% confidence interval (CI): 0.23 to 0.56, P<0.01; aOR=0.65, 95% CI: 0.46 to 0.91, P<0.05, respectively]. After the CHD patients were stratified as BSS or non-BSS according to their Chinese medicine patterns, the rs5938 polymorphism mutated alleles had a significant association with a low risk for BSS of CHD (aOR=0.32, 95% CI: 0.18 to 0.57, P<0.01) and non-BSS of CHD (aOR=0.31, 95% CI: 0.17 to 0.55, P<0.01). The rs313152 polymorphism was associated with a low risk for BSS (aOR=0.51, 95% CI: 0.33 to 0.79, P<0.01), but not for non-BSS (aOR=1.22, 95% CI: 0.81 to 1.85, P<0.05). Furthermore, the interaction effect of the rs5938 and rs313152 polymorphisms for BSS of CHD was significantly based on an aOR value associated with the combination of the rs5938 GT genotype with the rs313152 TC genotype of 0.27 (95% CI: 0.1 to 0.7, P<0.01).

CONCLUSION

The PAFR gene rs5938 or rs313152 polymorphisms might be a potential biomarker for susceptibility to CHD, especially to BSS of CHD in Chinese Han population.

摘要

目的

探讨血小板激活因子受体(PAFR)基因 rs5938、rs313152 和 rs76744145 多态性与中国汉族人群冠心病(CHD)及血瘀证的相关性。

方法

共纳入 570 例 CHD 患者(血瘀证 299 例,非血瘀证 271 例)和 317 例对照。采用多重 SNaPshot 技术检测 PAFR 基因 rs5938、rs313152 和 rs76744145 多态性。采用多变量 logistic 回归模型进行统计学分析。

结果

在对照组和 CHD 患者之间,rs5938(P<0.01)而不是 rs313152(P>0.05)的基因型频率分布存在显著差异。携带 rs5938 突变等位基因的个体患 CHD 的风险较低[校正优势比(aOR)=0.35,95%置信区间(CI):0.23 至 0.56,P<0.01;aOR=0.65,95%CI:0.46 至 0.91,P<0.05]。根据中医证型将 CHD 患者分为血瘀证或非血瘀证后,rs5938 多态性突变等位基因与血瘀证 CHD(aOR=0.32,95%CI:0.18 至 0.57,P<0.01)和非血瘀证 CHD(aOR=0.31,95%CI:0.17 至 0.55,P<0.01)的低风险显著相关。rs313152 多态性与血瘀证(aOR=0.51,95%CI:0.33 至 0.79,P<0.01)而不是非血瘀证(aOR=1.22,95%CI:0.81 至 1.85,P<0.05)的低风险相关。此外,rs5938 和 rs313152 多态性对血瘀证 CHD 的交互作用效应基于与 rs5938 GT 基因型与 rs313152 TC 基因型相结合的 aOR 值为 0.27(95%CI:0.1 至 0.7,P<0.01)。

结论

PAFR 基因 rs5938 或 rs313152 多态性可能是中国汉族人群冠心病,特别是血瘀证 CHD 的潜在易感生物标志物。

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