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目的:探讨围绝经期妇女的FSHR基因单核苷酸多态性(SNPs)与卵巢功能衰退的相关性。方法:选取2011年7月20日至10月15日因月经紊乱来我院妇科门诊就诊的195例患者,根据血清FSH水平,将患者分为卵巢功能正常组(84例)、卵巢储备功能下降组(77例)和卵巢功能衰竭组(34例)。应用SNaPshot技术检测FSHR基因Ala307Thr和Ser680Asn的多态性。结果:衰竭组的Ala307Thr位点SNP的基因型频数分布与正常组、下降组比较,差异均显著(χ2=7.7、6.22,P均<0.05)。正常组的Ser680Asn位点SNP的基因型频数分布与衰竭组差异显著(χ2=8.26,P<0.05)。3组中TTNN的分布均占多数,且随着卵巢功能衰退呈下降趋势,衰竭组显著低于正常组和下降组(P<0.05);其他依次为TANS和AASS,均随着卵巢功能衰退呈增多趋势,正常组与衰竭组的AASS基因型差异显著(χ2=4.19,P<0.05)。3组均以TN和AS单倍体型为主,随着卵巢功能衰退,TN单倍体型呈减少趋势,AS单倍体型呈增多趋势。衰竭组的TN单倍体型与正常组和下降组比较,差异显著(P<0.05)。正常组和衰竭组的AS单倍体型差异显著(P<0.05)。结论:FSHR基因Ala307Thr和Ser680Asn单核苷酸多态性与围绝经期妇女卵巢功能的衰竭有关。
Objective: To investigate the association between single nucleotide polymorphisms (SNPs) of FSHR gene and ovarian dysfunction in perimenopausal women. Methods: From July 20, 2011 to October 15, 2011, 195 patients with gynecological outpatient visits due to menstrual disorders were divided into normal ovarian function group (n = 84) according to serum FSH level and ovarian reserve function decreased (77 cases) and ovarian failure group (34 cases). SNaPshot technique was used to detect the polymorphisms of Ala307Thr and Ser680Asn in FSHR gene. Results: The frequency distribution of genotype frequency of SNP at Ala307Thr in failure group was significantly lower than that in normal group and descending group (χ2 = 7.7, 6.22, P <0.05). The genotype frequency distribution of SNP at Ser680Asn site in normal group was significantly different from that in failure group (χ2 = 8.26, P <0.05). The distribution of TTNN in the three groups accounted for the majority, and declined with the decline of ovarian function, the failure group was significantly lower than the normal group and the decreased group (P <0.05); the other followed by TANS and AASS, with ovarian function decline There was a significant difference in AASS genotype between normal group and failure group (χ2 = 4.19, P <0.05). The haplotypes of TN and AS dominated in the three groups. With the decline of ovarian function, the haplotypes of TN decreased and the haplotypes of AS increased. TN haplotypes in failure group were significantly different from those in normal group and descending group (P <0.05). There was significant difference in AS haplotype between normal group and failure group (P <0.05). Conclusion: The single nucleotide polymorphisms of Ala307Thr and Ser680Asn in FSHR gene are related to the failure of ovarian function in perimenopausal women.