男性雄激素性秃发患者雄激素受体基因和5α还原酶基因多态性研究

Study on genetic polymorphisms of androgen receptor gene and 5α-reductase genes of Han men with androgenetic alopecia in the Eastern China

目的探讨华东地区汉族男性雄激素性秃发与雄激素受体基因和5α还原酶基因多态性的关系。方法研究对象为101例男性雄激素性秃发患者和104例健康对照,抽取外周血后分离纯化出基因组DNA,采用聚合酶链反应和限制性片段长度多态性方法研究雄激素受体基因1号外显子StuⅠ限制性片段长度多态性和Ⅰ型5α还原酶(SRD5A1)和Ⅱ型5α还原酶(SRD5A2)基因多态性,微卫星扫描分析1号外显子CAG和GGC重复序列的多态性。结果雄激素受体基因1号外显子StuⅠ限制性片段长度多态性在汉族男性雄激素性秃发患者与健康对照之间差异无统计学意义(P>0.05),雄激素受体基因的CAG重复序列多态性分布在两组之间差异无统计学意义(P=0.130),GGC重复序列多态性分布在两组之间差异有统计学意义(P=0.004);短CAG/短GGC分别在病例与对照组中占25.53%和46.88%(P= 0.002),长CAG/长GGC分别占42.55%和19.79%(P=0.001)。未发现SRD5A1及SRD5A2等位基因和基因型出现的频率不同(P>0.05)。结论雄激素受体基因GGC重复序列以及CAG/GGC重复序列多态性与汉族男性雄激素性秃发有明显关系。而5α还原酶基因多态性与汉族男性雄激素性秃发无明显关系。

Objective To determine if the genetic polymorphisms of androgen receptor gene and 5 α -reduetase gene are associated with Han men with androgenetic alopecia （ AGA ） in the Eastem China. Methods One hundred and one AGA patients and 104 healthy controls were recruited in this study. Genomic DNA was isolated and purified from blood of those subjects. The genetic polymorphisms of exon 1 of androgen receptor gene and 5 α -reductase genes （ SRD5A1 and SRD5A2 ） were determined by PCR - restriction fragment length polymorphisms （ RFLP ）. Triplet repeats of CAG and GGC of exon 1 were analyzed by STRs. Results No significant differences were found in Stu I RFLP and triplet repeat CAG polymorphisms between patients and controls （ P 〉 0.05 ）. However, there was significant difference of triplet repeat GGC polymorphisms between patients and controls （ P = 0.004 ）. The combination of shorter CAG and GGC accounted for 25.53% and 46.88% in patients and controls, respectively （ P = 0.002 ）. The combination of longer CAG and GGC accounted for 42.55% and 19.79% in patients and controls, respectively （ P = 0.001 ）. In addition, no significant differences were found in allele, genotype frequencies of SRD5A1 and SRD5A2 genes between patients and controls （ P 〉 0.05 ）. Conclusions These results suggest that the polymorphisms of triplet repeat GGC or combination of CAG and GGC of the androgen receptor is significantly associated with Han men with androgenetic alopeeia in the Eastern China. However, genetic polymorphism of 5α -reduetase may not directly associated with androgenetic alopecia in our study population.