囊泡相关膜蛋白8基因多态性与动脉粥样硬化性脑梗死相关性研究

Association between vesicle-associated membrane protein 8 gene polymorphisms and atherosclerotic cerebral infarction

目的探讨囊泡相关膜蛋白8(VAMP8)基因rs13426038和rs10666612多态性与动脉粥样硬化性脑梗死(ACI)的相关性。方法采用聚合酶链反应-限制性片段长度多态性技术,对动脉粥样硬化性脑梗死组和正常对照组VAMP8基因rs13426038和rs10666612位点进行基因分型。结果两位点基因型分布均符合Hardy-Weinberg遗传平衡检验。VAMP8基因rs13426038位点CC/GG基因型频率在ACI组和对照组分别为20.5%/35.9%和15.0%/36.0%,C/G等位基因频率为42.3%/57.7%和39.5%/60.5%;两组间基因型及等位基因频率差异比较无统计学意义(P=0.08,P=0.25)。VAMP8基因rs10166612位点AA/GG基因型频率在ACI组和对照组分别为92.7%/0.5%和91.8%/0%,A/G等位基因频率为96.1%/3.9%和95.9%/4.1%;两组间基因型及等位基因频率分布比较亦无统计学差异(P=0.16,P=0.46)。结论 VAMP8基因rs13426038 C/G和rs10166612 A/G多态性可能与ACI发生无关。

Objective To investigate the association between vesicle-associated membrane protein 8（ VAMP8） gene polymorphisms（rs13426038 and rs10166612） and atherosclerotic cerebral infarction（ ACI） in Han Chinese population in Hunan,China.Methods The genotypes of rs13426038 and rs10166612 in VAMP8 gene were determined using polymerase chain reaction-restriction fragment length polymorphism in patients diagnosed with ACI（ ACI group） and healthy controls（ control group）. The genotype and allele frequencies were analyzed by χ~2 test. Results The genotype distributions at rs13426038 and rs10166612 were in agreement with Hardy-Weinberg equilibrium. In the ACI group,the frequencies of CC,CG,and GG genotypes at rs13426038 were 20. 5%,43. 6%,and 35. 9%,respectively,and the frequencies of C and G alleles were 42. 3% and 57. 7%,respectively. In the control group,the frequencies of CC,CG,and GG genotypes at rs13426038 were 15. 0%,49. 0%,and 36. 0%,respectively,and the frequencies of C and G alleles were 39. 5% and 60. 5%,respectively. There were no significant differences in genotype and allele frequencies at rs13426038 between the ACI group and the control group（ P = 0. 08,P = 0. 25）. In the ACI group,the frequencies of AA,AG,and GG genotypes at rs10166612 were 92. 7%,6. 8%,and 0. 5%,respectively,and the frequencies of A and G alleles were 96. 1% and3. 9%,respectively. In the control group,the frequencies of AA,AG,and GG genotypes at rs10166612 were 91. 8%,8. 2%,and0%,respectively,and the frequencies of A and G alleles were 95. 9% and 4. 1%,respectively. There were no significant differences in genotype and allele frequencies at rs10166612 between the two groups（ P = 0. 16,P = 0. 46）. Conclusions The polymorphisms of VAMP8 gene（ rs13426038 and rs10166612） may not be associated with ACI in Han Chinese population in Hunan,China.