多囊卵巢综合征患者H19基因多态性与复发性流产的相关性

Correlation between H19 gene polymorphism and recurrent spontaneous abortion in patients with polycystic ovary syndrome

目的探讨H19基因多态性与多囊卵巢综合征(PCOS)患者复发性流产(RSA)遗传易感性的相关性。方法选择PCOS患者115例和75例对照组为研究对象。PCOS的诊断标准参照鹿特丹工作组修正的标准。在115例PCOS患者中,55例为已生育无流产史的PCOS患者,60例为PCOS伴复发性流产(RSA)患者。提取研究对象基因组DNA,采用高通量测序法进行基因组测序。分析长链非编码RNA (lnc RNA) H19基因结合区单核苷酸多态性(SNPs)与PCOS伴发RSA的相关性。结果PCOS+RSA组、PCOS对照组和正常对照组中H19基因的rs7103849位点存在AA、AG、GG 3种基因型和A、G两种等位基因,PCOS+RSA组3种基因型和A/G两种等位基因频率分别为26.3%、57.9%、15.8%、55.3%及44.7%;PCOS对照组3种基因型和A/G两种等位基因频率分别为66.7%、26.7%、6.7%、80.0%及20.0%;正常对照组3种基因型和A,G两种等位基因频率分别为24.0%、60.0%、16.0%、54.0%及46.0%,3组在3种基因型的频率分布上差异无统计学意义(P>0.05);而两种等位基因频率分布上差异有统计学意义(P=0.047)。结论 lnc RNA H19基因rs7103849位点SNP多态性可能与RSA的发生相关。

Objective To explore the correlation between H19 gene polymorphism and hereditary susceptibility of recurrent spontaneous abortion( RSA) in patients with polycystic ovary syndrome( PCOS). Methods A total of 115 patients with PCOS and 75 healthy women( control group) were selected as study object. Rotterdam Working Group revised criteria were used to diagnose PCOS. Among115 patients with PCOS,55 patients had no abortion history,and the other 60 patients had RSA history. Genome DNA was abstracted,highthroughput sequencing method was performed. The correlations between long non-coding RNA( lnc RNA) H19 gene binding single nucleotide polymorphisms and PCOS complicated with RSA were analyzed. Results In PCOS+RSA group,PCOS control group,and normal control group,AA,AG,GG genotypes and A,G alleles were observed in H19 gene rs7103849 locus. The frequencies of AA,AG,GG genotypes and A,G alleles in PCOS +RSA group were 26. 3%,57. 9%,15. 8%,55. 3%,and 44. 7%,respectively;the frequencies of AA,AG,GG genotypes and A,G alleles in PCOS control group were 66. 7%,26. 7%,6. 7%,80. 0%,and 20. 0%,respectively;the frequencies of AA,AG,GG genotypes and A,G alleles in normal control group were 24. 0%,60. 0%,16. 0%,54. 0%,46. 0%,respectively.There was no statistically significant difference in the frequencies of AA,AG,GG genotypes among the three groups( P>0. 05),but there were statistically significant differences in the frequencies of A,G alleles among the three groups( P = 0. 047). Conclusion SNP of lnc RNA H19 gene rs7103849 locus may be correlated with occurrence of RSA.