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VII 因子 R353Q、-323P0/10 及 HVR4 多态性与突尼斯人群冠心病的相关性研究。

Contribution of coagulation factor VII R353Q, -323P0/10 and HVR4 polymorphisms to coronary artery disease in Tunisians.

机构信息

Faculty of Pharmacy, Research Unit of Biology and Genetics of Hematologic and Autoimmune Diseases, Monastir, Tunisia.

出版信息

J Thromb Thrombolysis. 2013 Feb;35(2):243-9. doi: 10.1007/s11239-012-0800-0.

Abstract

We examined the contribution of two factor VII (FVII) bi-allelic (R353Q, -323P0/10) and one tandem repeat (HVR4) polymorphisms to the risk of coronary artery disease (CAD) in Tunisians. Study subjects comprised 308 CAD patients and 312 age-, gender- and ethnically-matched controls. Regression analysis was used in assessing the FVII association to CAD risk. While the distribution of -323P0/10 alleles and genotypes were comparable between cases and controls, marginal association of the R353Q variant was noted, with the Q allele (19.1 vs. 23.8%; P = 0.05) and Q allele-containing genotypes (R/Q + Q/Q; 33.8 vs. 48.0%) being slightly under-represented in cases than in controls. On the other hand, four alleles of FVII microsatellite HVR4 were detected at variable frequencies in Tunisians, and comprised H6 (63.2%), H7 (33.8%), and to lesser extents H5 (1.9%) and H8 (0.8%). Of these, the H7 variant was under-represented in patients [P = 0.038; OR (95%CI) = 0.75 (0.58-0.97)]. Of the major genotypes detected (H6/H6, H6/H7, H7/H7) only H6/H6 was positively associated with CAD [P = 0.047; OR (95%CI) = 1.39 (1.00-1.94)]. In conclusion, our study underscores the role of polymorphisms in the FVII gene in modulating the susceptibility to CAD in (North African) Tunisian Arabs.

摘要

我们研究了两个因子 VII(FVII)双等位基因(R353Q,-323P0/10)和一个串联重复(HVR4)多态性对突尼斯人冠心病(CAD)风险的贡献。研究对象包括 308 例 CAD 患者和 312 名年龄、性别和种族匹配的对照。采用回归分析评估 FVII 与 CAD 风险的相关性。虽然 -323P0/10 等位基因和基因型在病例和对照组之间的分布无差异,但 R353Q 变体存在边缘相关性,Q 等位基因(19.1%比 23.8%;P=0.05)和含有 Q 等位基因的基因型(R/Q+Q/Q;33.8%比 48.0%)在病例中略低于对照组。另一方面,在突尼斯人中共检测到 FVII 微卫星 HVR4 的四个等位基因,频率不同,包括 H6(63.2%)、H7(33.8%),以及程度较小的 H5(1.9%)和 H8(0.8%)。其中,H7 变体在患者中表达不足[P=0.038;比值比(95%可信区间)=0.75(0.58-0.97)]。在所检测到的主要基因型(H6/H6、H6/H7、H7/H7)中,只有 H6/H6 与 CAD 呈正相关[P=0.047;比值比(95%可信区间)=1.39(1.00-1.94)]。综上所述,本研究强调了 FVII 基因多态性在调节(北非)突尼斯阿拉伯人 CAD 易感性中的作用。

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