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首页> 外文期刊>Journal of genetics >Association of protein Z and factor VII gene polymorphisms with risk of cerebral hemorrhage: a case-control and a family-based association study in a Chinese Han population
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Association of protein Z and factor VII gene polymorphisms with risk of cerebral hemorrhage: a case-control and a family-based association study in a Chinese Han population

机译：蛋白Z和因子VII基因多态性与脑出血风险的关联：在中国汉族人群中的病例对照和基于家庭的关联研究

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摘要

Protein Z (PZ) and factor (F) VII are two important factors in the clotting pathway which have similar structure, linked function and nearby gene sites. The aims of this study were to investigate whether the common variants of PZ and FVII genes are associated with the risk of cerebral hemorrhage (CH) and to explore the combined effects of PZ and FVII polymorphisms for CH risk. We performed genotyping analysis for two single-nucleotide polymorphisms (SNPs) of FVII (rs510317 and rs6046) and three SNPs of PZ (rs2273971, rs3024718 and rs3024731) both in a population-based case-control study and in a family-based association study. Case-control analysis found no evidence of significant association. But family-based association study revealed that the G allele of PZ rs2273971, and three haplotypes carrying the 'G' allele of PZ rs2273971: haplotype GA, CG and CGA of PZ and FVII genes, all had a significant effect on CH susceptibility (Z = 1.882, P = 0.049; Z = 1.922, P = 0.044; Z = 1.826, P = 0.047; Z = 1.977, P = 0.048, respectively). While, the A allele of PZ rs2273971, and four haplotypes carrying or crossing the 'A' allele of PZ rs2273971: haplotypes CA, ACAA, ACAT and ACAAT of PZ and FVII genes, may confer protection against CH (Z =-1.882, P = 0.049; Z =-2.000, P = 0.045; Z =-2.319, P = 0.020; Z =-2.002, P = 0.045; Z =-2.015, P = 0.043, respectively). This is a first family-based association study providing genetic evidences that PZ and FVII genes, especially PZ rs2273971 are involved in the development of CH in Han-Chinese families.
机译：蛋白Z（PZ）和因子（F）VII是凝血途径中的两个重要因子，具有相似的结构，连锁功能和附近的基因位点。这项研究的目的是调查PZ和FVII基因的常见变异是否与脑出血（CH）的风险有关，并探讨PZ和FVII多态性对CH风险的综合影响。在基于病例的病例对照研究和基于家庭的关联研究中，我们对FVII的两个单核苷酸多态性（rs510317和rs6046）和PZ的三个SNPs（rs2273971，rs3024718和rs3024731）进行了基因分型分析。病例对照分析未发现明显关联的证据。但是基于家族的关联研究显示，PZ rs2273971的G等位基因以及携带PZ rs2273971的'G'等位基因的三种单倍型：PZ和FVII基因的单倍型GA，CG和CGA均对CH易感性产生显着影响（Z = 1.882，P = 0.049; Z = 1.922，P = 0.044; Z = 1.826，P = 0.047; Z = 1.977，P = 0.048）。而PZ rs2273971的A等位基因，以及携带或穿越PZ rs2273971的“ A”等位基因的四个单倍型：PZ和FVII基因的单倍型CA，ACAA，ACAT和ACAAT可以赋予针对CH的保护（Z = -1.882，P ＝ 0.049; Z ＝ -2.000，P ＝ 0.045; Z ＝ -2.319，P ＝ 0.020; Z ＝ -2.002，P ＝ 0.045; Z ＝ -2.015，P ＝ 0.043）。这是第一项基于家庭的关联研究，提供了遗传学证据，表明汉族家庭中PZ和FVII基因，尤其是PZ rs2273971参与了CH的发展。

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