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目的探讨卵泡刺激素受体基因(FSHR)-29(rs1394205)和Asn680Ser(rs6166)位点多态性与西北地区汉族妇女控制性超排卵(COH)中卵巢反应性的关系。方法采用限制性酶切技术对卵巢高反应患者45例,卵巢低反应患者27例和卵巢正常反应的对照69例的FSHR基因-29(rs1394205)位点和第10号外显子Asn680Ser(rs6166)位点进行分型,并通过Fisher’s精确检验的方法分析基因型和等位基因的分布频率。结果 1FSHR基因-29位点基因型、等位基因频率在三组间分布无差异。2Asn680Ser位点基因型、等位基因频率在卵巢高反应组与正常对照组间无统计学差异(P>0.05);Ser/Ser基因型频率在卵巢低反应中占40.7%,与正常对照组差异有统计学意义(P<0.01);携带G等位基因者发生卵巢低反应的风险增加(OR=2.37,%95 CI=[1.25-4.52])。结论 FSHR Asn680Ser位基因多态性与西北地区汉族妇女COH中的卵巢低反应相关。当Asn680Ser(rs6166)位点G等位基因的存在增加卵巢低反应的风险。
Objective To investigate the relationship between FSHR-29 (rs1394205) and Asn680Ser (rs6166) polymorphisms and ovarian response in Han Chinese women with controlled epithelial ovulation (COH) in Northwest China. Methods FSHR gene-29 (rs1394205) site and exon 10 Asn680Ser (rs6166) site in 45 patients with high ovarian response, 27 patients with low ovarian response and 69 patients with normal ovarian response were analyzed by restriction enzyme digestion. Then the genotype and allele frequency were analyzed by Fisher’s exact test. Results There was no difference in the genotype and allele frequencies of -29 locus in 1FSHR gene among the three groups. There was no significant difference in genotype and allele frequency of 2Asn680Ser between ovarian hyperresponsiveness group and normal control group (P> 0.05). Ser / Ser genotype frequency was 40.7% in ovarian low response, which was significantly different from that of normal control group (OR = 2.37,% 95 CI = [1.25-4.52]) with a statistically significant (P <0.01) risk of developing ovarian hyporesponse. Conclusion The FSHR Asn680Ser polymorphism is associated with low ovarian response in COH of Han women in Northwest China. The presence of the G allele of the Asn680Ser (rs6166) site increases the risk of ovarian hyporesponsiveness.