Parveen Farah, Agrawal Suraksha
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
Reprod Sci. 2015 Apr;22(4):410-5. doi: 10.1177/1933719114529376. Epub 2014 Apr 3.
Micro-RNAs (miRNAs) regulate diverse cellular processes such as cell differentiation, proliferation and apoptosis. Mutation in miRNAs results in various pathological conditions such as inflammation, viral infections, neurodegeneration, autoimmunity, and so on. We have evaluated the association of miR-146aC > G (rs2910164), miR-149T > C (rs2292832), miR-196a2T > C (rs11614913), and miR-499A > G (rs3746444) among patients with recurrent miscarriage (RM) and controls from North India. All the 200 patients with RM reported to experience at least 3 unexplained miscarriages before 20th week of gestation. Three hundred fertile women with no history of RMs were taken as controls. Both patients and controls were genotyped by the polymerase chain reaction amplification followed by restriction fragment length polymorphism. Variant alleles and genotypes of miR-499 A > G (Single Nucleotide Polymorphism Database [dbSNP] ID rs3746444) were found to be significant risks associated with patients having RM (odds ratio [OR] = 1.98; 95% confidence interval [CI] = 1.40-2.81; P value = .0001) and controls (OR = 3.64; 95% CI = 1.33-9.94; P value = .0109). A significant susceptible effect was found at allelic level in miR-196aT > C (dbSNP ID rs11614913) and miR-499 A > G (dbSNP ID rs3746444).
微小RNA(miRNA)可调控多种细胞过程,如细胞分化、增殖和凋亡。miRNA的突变会导致各种病理状况,如炎症、病毒感染、神经退行性变、自身免疫等。我们评估了印度北部复发性流产(RM)患者与对照组中miR-146aC>G(rs2910164)、miR-149T>C(rs2292832)、miR-196a2T>C(rs11614913)和miR-499A>G(rs3746444)之间的关联。所有200例RM患者均报告在妊娠20周前至少经历过3次不明原因的流产。300名无RM病史的可育女性作为对照组。患者和对照组均通过聚合酶链反应扩增后进行限制性片段长度多态性基因分型。发现miR-499 A>G(单核苷酸多态性数据库[dbSNP] ID rs3746444)的变异等位基因和基因型与RM患者(优势比[OR]=1.98;95%置信区间[CI]=1.40-2.81;P值=.0001)和对照组(OR=3.64;95% CI=1.33-9.94;P值=.0109)存在显著风险关联。在miR-196aT>C(dbSNP ID rs11614913)和miR-499 A>G(dbSNP ID rs3746444)的等位基因水平发现了显著的易感效应。