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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 casea€“control and a family-based association study in a Chinese Han pulation
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Association of protein Z and factor VII gene polymorphisms with risk of cerebral hemorrhage: a casea€“control and a family-based association study in a Chinese Han pulation

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

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Protein Z (PZ) and factor (F) VII are two important factors in the clotting pathway which have similar structure, linkedfunction and nearby gene sites. The aims of this study were to investigate whether the common variants of PZ and FVII genesare associated with the risk of cerebral hemorrhage (CH) and to explore the combined effects of PZ and FVII polymorphismsfor CH risk. We performed genotyping analysis for two single-nucleotide polymorphisms (SNPs) of FVII (rs510317 andrs6046) and three SNPs of PZ (rs2273971, rs3024718 and rs3024731) both in a population-based casea€“control study andin a family-based association study. Casea€“control analysis found no evidence of significant association. But family-basedassociation study revealed that the G allele of PZ rs2273971, and three haplotypes carrying the a€?Ga€? 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, andfour haplotypes carrying or crossing the a€?Aa€? allele of PZ rs2273971: haplotypes CA, ACAA, ACAT and ACAAT of PZ andFVII genes, may confer protection against CH (Z=a?’1.882,P=0.049; Z=a?’2.000,P=0.045; Z=a?’2.319,P=0.020;Z=a?’2.002,P=0.045; Z=a?’2.015,P=0.043, respectively). This is a first family-based association study providing geneticevidences 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SNP（rs2273971，rs3024718和rs3024731）进行了基因分型分析。 Casea的对照分析未发现明显关联。但是基于家庭的协会研究显示，PZ rs2273971的G等位基因和三个带有aGa的单倍型。 PZ rs2273971的等位基因：PZ和FVII基因的单倍型GA，CG和CGA均对CH易感性具有显着影响（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等位基因和携带或穿越a？Aa？的四个单倍型PZ rs2273971的等位基因：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 = a？1.882，P = 0.049; Z = a？'2.000，P = 0.045; Z = a？分别为“ 2.319，P ＝ 0.020; Z ＝a≤2.002，P ＝ 0.045; Z ＝a≤2.015，P ＝ 0.043”。这是第一个基于家庭的关联研究，提供了遗传证据，表明汉族汉族家庭中PZ和FVII基因，尤其是PZ rs2273971参与了CH的发展。

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