Objective To investigate the association of rs523349(V89L),rs9282858(A49T)and TA repeat polymorphisms in testosterone 5-alpha-reductase Ⅱ(SRD5A2) gene with prostate cancer(PCa) in the population of Yi nationality in Yunnan Province. Methods Sanger sequence detection technique was used to detect rs523349(V89L),rs9282858(A49T)and TA repeat polymorphisms of SRD5A2 gene in 122 subjects with confirmed PCa and 135 age-matched healthy controls in the Yunnan Yi population,then the association of these polymorphisms with prostate cancer was analyzed. Results The AA genotype of rs9282858 site in SRD5A2 gene was not found between the Pca patients and the healthy controls in the Yunnan Yi population. The genotypic and allelic frequency distributions of rs523349 and rs9282858 were not significantly varied between the Pca patients and the controls(P>0.05). But the genotypic and allelic frequency distributions of TA repeat site were significantly varied(P < 0.05). The genotype containing(TA)9 allele was more common in the Pca patients than the healthy controls(P=0.033). Compared with(TA)0 allele subjects,(TA)9 allele subjects had a higher PCa risk(OR=2.181, 95% CI :1.111~4.281,P=0.021). Conclusion The TA repeat polymorphisms of SRD5A2 gene was associated with PCa risk in the Yunnan Yi population,which could be used as a risk factor to screen the high-risk individuals.%目的 探讨云南省彝族人群中睾酮5-α还原酶Ⅱ(SRD5A2)基因rs523349(V89L)、rs9282858 (A49T)和TA重复序列多态性与前列腺癌的相关性.方法 通过Sanger测序法对122例云南彝族前列腺患者和135例云南彝族非前列腺癌健康男性SRD5A2基因rs523349(V89L)、rs9282858(A49T)和TA重复序列多态性进行检测,并分析其与前列腺癌之间的相关性.结果 云南彝族前列腺癌组和对照组中均未发现SRD5A2基因rs9282858位点的AA基因型.两组间SRD5A2基因rs523349和rs9282858位点的基因型和等位基因频率分布差异无统计学意义(P>0.05).而两组间TA重复序列位点的基因型和等位基因频率分布差异有统计学意义(P<0.05),在前列腺癌组中含有(TA)9等位基因的基因型[(TA)0 (TA)9+(TA)9(TA)9]较对照组多见(P=0.033).与携带(TA)0等位基因者相比,携带(TA)9等位基因者患前列腺癌的风险明显增高(OR=2.181 ,95% CI :1.111~4.281 ,P=0.021).结论 云南彝族人群中SRD5A2基因TA重复序列多态性与前列腺癌发病危险相关,可作为前列腺癌的基因危险因素,来确定高危人群.
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