PAX4基因A1168C多态性与中国汉族人1型糖尿病的相关性

Association between A1168C Polymorphism in PAX4 Gene and Type 1 Diabetes in Han Chinese

目的探讨中国汉族人群PAX4基因A1168C多态性与1型糖尿病的相关性。方法随机选取无亲缘关系的中国汉族人360例,其中1型糖尿病患者109例,无糖尿病及糖尿病家族史且空腹葡萄糖<5.60mmol/L的对照组251名。采用聚合酶链反应-限制性片断长度多态性技术(PCR-RFLP)检测A1168C多态性,SPSS软件分析A1168C多态性的基因型频率和等位基因频率及其组间差异。结果对照组和1型糖尿病组基因型频率分布均符合Hardy-Weinberg平衡定律。1型糖尿病患者基因型频率及等位基因频率与对照组相比差异均无显著性(P>0.05)。将1型糖尿病组按性别和发病年龄分层,各组基因型频率和等位基因频率与对照组相比差异仍无显著性(P>0.05)。结论PAX4基因A1168C多态性可能与中国汉族1型糖尿病的发生无关。

Objective To explore whether A1168C polymorphisms in paired box gene 4 （PAX4） are associated with type 1 diabetes mellitus （T1DM） in Chinese Han population. Methods Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） was used to genotype Al168C polymorphisms in PAX4 gene. Totally 109 patients with T1DM and 251 control subjects were recruited. The frequency distributions of genotypes between two groups were analyzed by SPSS software. Results The genotype distributions were in Hardy-Weinberg equilibrium both among T1DM cases and control subjects. No difference was observed in the genotype frequencies and allele frequencies between T1DM cases and control subjects （ P 〉 0.05 ） , nor was any disease association detected when patients were stratified according to age at diagnosis or sex （P 〉 0.05 ）. Conclusion The A1168C single nucleotide polymorphism in PAX4 gene may not play an essential role in genetic T1DM susceptibility in Chinese Han population.