Ghasemi Marzieh, Heidari Nia Milad, Hashemi Mohammad, Keikha Narjes, Fazeli Kimia, Taji Omid, Naghavi Anoosh
Department of Obstetrics and Gynecology, Pregnancy Health Research Center, Zahedan, Iran.
Moloud Infertility Center, Ali-ibn-Abitaleb Hospital, Zahedan University of Medical Sciences, Zahedan, Iran.
Biol Reprod. 2020 Oct 29;103(5):978-985. doi: 10.1093/biolre/ioaa131.
Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies that causes problems in female fertility at the reproductive age. PCOS is a multifactorial disease, with genetic factors playing a crucial role in its development. H19 is a long non-coding RNA (lncRNA) expressed from the maternal chromosome, which is correlated with PCOS. In this study, 115 women suffering from PCOS and 130 healthy women with regular menstrual cycles were recruited as case and control groups, respectively. After the extraction of genomic DNA, the restriction fragment length polymorphism polymerase chain reaction was employed for genotyping of rs2067051G>A and rs3741219T>C. Statistical analysis was done using SPSS package V.22 for Windows. In silico analysis was recruited to determine the effects of SNPs on the secondary structure of gene transcript as well as miRNA binding sites. The obtained data showed that the A allele of rs2067051G>A was associated with the high risk of PCOS (OR = 2.00, 95%CI = 1.38-2.91, P = 0.00). AG and AA genotypes led to a 3.64- and (about) a five-fold increase in the risk of PCOS, respectively (95%CI = 2.02-6.54, P = 0.00, and 95%CI = 1.51-16.52, P = 0.00, respectively). These variants caused a significant increase in the risk of this disorder in all genotype models except in the recessive model. However, no association was found between rs3741219T>C and the increased risk of PCOS, either in the allele or in the genotype models. According to the findings, rs2067051G>A is associated with an increased risk of PCOS in the Iranian population.
多囊卵巢综合征（PCOS）是最常见的内分泌疾病之一，会导致育龄期女性生育问题。PCOS是一种多因素疾病，遗传因素在其发病过程中起关键作用。H19是一种从母源染色体表达的长链非编码RNA（lncRNA），与PCOS相关。本研究分别招募了115例PCOS女性患者和130例月经周期正常的健康女性作为病例组和对照组。提取基因组DNA后，采用限制性片段长度多态性聚合酶链反应对rs2067051G>A和rs3741219T>C进行基因分型。使用Windows版SPSS 22软件包进行统计分析。采用计算机模拟分析来确定单核苷酸多态性（SNP）对基因转录本二级结构以及微小RNA（miRNA）结合位点的影响。所得数据显示，rs2067051G>A的A等位基因与PCOS高风险相关（比值比[OR]=2.00，95%置信区间[CI]=1.38 - 2.91，P=0.00）。AG和AA基因型分别导致PCOS风险增加3.64倍和（约）5倍（95%CI分别为2.02 - 6.54，P=0.00；95%CI为1.51 - 16.52，P=0.00）。除隐性模型外，这些变异在所有基因型模型中均导致该疾病风险显著增加。然而，无论是在等位基因模型还是基因型模型中，均未发现rs3741219T>C与PCOS风险增加之间存在关联。根据研究结果，rs2067051G>A与伊朗人群中PCOS风险增加相关。
