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目的:位于XPC基因外显子区域Ala499Val(C>T)和Lys939Gln(A>C)两个非同义突变的单核苷酸多态性位点在人群中研究广泛,具有潜在的功能性,其多态的变化影响到XPC基因的结构和功能,进而影响到DNA损伤修复率。本文探讨了这两个位点基因多态性在中国汉族人群中的分布及其与男性不育发病风险的关联。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,分析318例男性不育患者和228例正常对照男性中XPC基因两个多态性位点的基因分型和等位基因频率,以及这两个位点单独和联合作用与男性不育的相关性。结果:在Ala499Val(C>T)多态性位点中,CC、CT、TT三种基因型频率在病例和对照组中的分布存在显著性差异(P=0.020)。携带TT基因型的个体罹患男性不育的风险是CC基因型个体的0.49倍(95%CI=0.23～0.88),是(CC+CT)基因型个体的0.39倍(95%CI=0.22～0.71)。Lys939Gln(A>C)多态性位点与男性不育的患病风险无显著性关联。联合两个位点分析,个体携带1～4个危险位点患男性不育的风险是携带零个的2.75倍(95%CI=1.50～5.04)。结论:XPC基因Ala499Val(C>T)基因多态性与男性不育的发病风险存在关联,可能是我国汉族人群男性不育的遗传易感因素之一。
OBJECTIVE: Single nucleotide polymorphisms (SNPs) of two nonsynonymous mutations, Ala499Val (C> T) and Lys939Gln (A> C), located in the exon of XPC gene are widely studied and have potential functionalities. Polymorphism changes affect the structure and function of XPC gene, which in turn affects DNA damage repair rate. This article explores the distribution of the two loci polymorphisms in Chinese Han population and its association with the risk of male infertility. Methods: The genotypes of two polymorphic sites of XPC gene in 318 male infertility patients and 228 normal controls were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Allele frequency, and the association of these two sites individually and in combination with male infertility. Results: The frequency of CC, CT and TT genotypes in the Ala499Val (C> T) polymorphism sites was significantly different between cases and controls (P = 0.020). Individuals with the TT genotype had a 0.49-fold (95% CI = 0.23-0.88) risk of developing male infertility compared with individuals with CC genotype and 0.39-fold (95% CI 0.22-0.71) for individuals with CC + CT genotype ). There was no significant correlation between Lys939Gln (A> C) polymorphism and the prevalence of male infertility. Combined analysis of two loci showed that the risk of infertility among men carrying 1 to 4 risk loci was 2.75 times (95% CI = 1.50 to 5.04) with zero. CONCLUSION: The association of XPC gene Ala499Val (C> T) gene polymorphism with the risk of male infertility may be one of the genetic predisposes to male infertility in Chinese Han population.