Wang Lan, Li Hemei, Ai Jihui, Zhang Hanwang, Zhao Yiqing
Reproductive Medicine Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 1095 Jiefang Avenue, Wuhan 430030, The People's Republic of China.
Department of Gynecology and Obstetrics, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology 26 Shengli Avenue, Wuhan 430014, The People's Republic of China.
Int J Clin Exp Pathol. 2015 Aug 1;8(8):9552-9. eCollection 2015.
To investigate the possible relationship between single nucleotide polymorphisms (SNPs) in the anti-Müllerian hormone (AMH) signaling pathway and the incidence of early OHSS, the genomic DNA was isolated from peripheral blood leukocytes of 122 participants (62 patients with early OHSS and 60 patients without OHSS who underwent IVF/ICSI), and SNPs of the AMH and AMHR2 exons were detected directly. Further more, genotype distribution and allele frequency were analyzed. We found seven types of SNPs in the AMH exons, and two of them were missense mutations (rs10407022 and rs182295886). However, these two missense mutations did not increase the risk of early OHSS (rs10407022, P=0.307, OR=1.552, CI 0.668, 3.608; rs182295886, P=0.442, OR=0.359, CI 0.026, 4.883). While it was observed that participants with the SNP (rs10407022) had a relatively higher ovarian response than those without the SNP. Further more, we did not find any SNPs in exons of AMHR2. In conclusion, we analyzed the pathogenesis of OHSS by first investigating the SNPs in the AMH signaling pathway. There is no association between SNPs in the AMH/AMHR2 signaling pathway and early OHSS in Han Chinese women.
为了研究抗苗勒管激素(AMH)信号通路中的单核苷酸多态性(SNP)与早期卵巢过度刺激综合征(OHSS)发生率之间的可能关系,从122名参与者(62例早期OHSS患者和60例接受体外受精/卵胞浆内单精子注射且未发生OHSS的患者)的外周血白细胞中分离基因组DNA,并直接检测AMH和AMHR2外显子的SNP。此外,分析了基因型分布和等位基因频率。我们在AMH外显子中发现了7种SNP类型,其中2种为错义突变(rs10407022和rs182295886)。然而,这两种错义突变并未增加早期OHSS的风险(rs10407022,P = 0.307,OR = 1.552,CI 0.668,3.608;rs182295886,P = 0.442,OR = 0.359,CI 0.026,4.883)。同时观察到携带SNP(rs10407022)的参与者比未携带该SNP者具有相对更高的卵巢反应。此外,我们在AMHR2外显子中未发现任何SNP。总之,我们首先通过研究AMH信号通路中的SNP来分析OHSS的发病机制。在汉族女性中,AMH/AMHR2信号通路中的SNP与早期OHSS之间无关联。