抗苗勒氏管激素及其Ⅱ型受体的基因多态性与多囊卵巢综合征发病的关系

Relationship between polymorphism of anti-mullerian hormone,anti-mullerian hormone receptor type Ⅱ and polycystic ovary syndrome

目的探讨抗苗勒氏管激素(AMH)Ile49Ser及抗苗勒氏管激素Ⅱ型受体(AMHR2)-482A>G多态性与多囊卵巢综合征(PCOS)发病的相关性。方法采用聚合酶链反应(PCR)和DNA测序方法,检测103例PCOS妇女和79例正常排卵妇女AMHIle49Ser和AMHR2-482A>G的基因型分布,并采用酶放大化学发光及酶联免疫吸附试验(ELISA)等方法测定血清激素。结果PCOS组和正常对照组的AMHIle49Ser和AM-HR2-482A>G的基因型分布比较,差异无显著性(P>0.05);PCOS组AMH的Ile/Ile、Ile/Ser和Ser/Ser3种基因型的血清AMH水平分别是(11.0±4.2)、(13.4±6.9)和(17.6±6.5)ng/ml,差异有显著性(P<0.05);PCOS组AMH水平与对照组比较,差异有显著性(P<0.001)。结论AMHIle49Ser及AMHR2的-482A>G多态性与PCOS发病可能不相关,PCOS组血清AMH水平明显高于正常排卵妇女,AMHIle49Ser的多态性可能是影响PCOS妇女卵泡期AMH水平的因素之一。

Objectives To investigate the relationship between anti-mullerian hormone （AMH）, anti-mullerian hormone type Ⅱ receptor （AMHR2） and polycystic ovary syndrome （PCOS） in Chinese women. Methods A total of 103 patients with PCOS and 79 healthy controls were recruited in this study. Polymorphisms and genotype of AMHIIe^49Ser and AMHR2-482A〉G were determined by polymerase chain reaction （PCR） and DNA sequencing. Serum hormone concentration was measured by ELISA. Results No statistically significant difference in the distribution of AMHIle^49 Ser and AMHR2 - 482A〉G genotypes was found between PCOS group and control （P〉 0.05）. Patients with PCOS have higher serum AMH levels than controls （P〈0.001）. Carriers of the AMH Ser^49 allele had higher serum AMH levels on follicular phase when compared with non-carriers in PCOS patients （P〈0.05）. Conclusions AMH and AMHR2 polymorphisms may not associate with polycystic ovary syndrome. Polymorphisms in the AMH genes are associated with follicular phase AMH levels in PCOS patients.