中国汉族人GZMB基因与白癜风疾病状态的遗传学关联分析

Analysis of Genetic Association Between GZMB and Vitiligo in Han Chinese Population

目的研究中国人群中GZMB基因多态性位点与白癜风疾病状态的遗传学关联。方法对包含303例白癜风患者及797例健康对照在内的1 100例中国汉族受试者覆盖GZMB基因的15个单核苷酸多态性位点进行基因分型。通过Logistic回归模型的方法分析了相关位点对白癜风患病风险的贡献。此外,还进行了单倍型的相关分析。结果确定出一个位于GZMB基因外显子区域的错义突变rs8192917与白癜风显著关联(OR=1.49,P=0.000 1)。单倍型分析差异无统计学意义。结论本研究确认在中国汉族人群中GZMB基因上的错义突变位点rs8192917与白癜风的疾病状态存在显著性关联。

Objective To investigate the genetic association between SNPs of CZMB and status of vitiligo in Chinese population. Methods Fifteen SNPs in gene GZMB were collect- ed for genotyping in a total of 1 100 recruited subjects comprising of 303 vitiligo pa- tients and 797 healthy controls. Related genetic regression markers were analyzed to e- valuate their potential contribution to the risk of vitiligo by logistic regression mod- els. Haplotype based tests were also performed. Results One non-synonymous coding SNP, rs8192917 was identified to be significantly associated with the status of vitiligo in Chinese HaM population （ OR = 1.49, P = 0. 000 1 ）. No significant findings were obtained for the haplotype-based analyses. Conclusion This study shows that there is a remarkable association between GZMB gene and the status of vitiligo in HaM Chinese population.