Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea.
Reprod Sci. 2013 Jan;20(1):60-8. doi: 10.1177/1933719112450341. Epub 2012 Aug 7.
We investigated whether microRNA (miRNA) polymorphisms (miR-146aC>G, miR-196a2T>C, and miR-499A>G) confer risk of premature ovarian failure (POF) in Korean women. DNA samples from 136 patients with POF and 234 controls were genotyped for the 3 miRNA single-nucleotide polymorphisms by polymerase chain reaction-restriction fragment length polymorphism. The miR-146aCG/miR-196a2TC combined genotype was less frequent in patients than in controls (P < .05), conferring less susceptibility. Using haplotype-based multifactor dimensionality reduction analysis, the C-C-A and G-T-A inferred haplotypes (miR-146a/miR-196a2/miR-499) were less frequent in patients, suggesting protective effects (P < .05 for each), whereas the C-T-A and G-C-A haplotypes were more frequent in patients (P < .05 for each). The C-T and G-C haplotypes (miR-146a/miR-196a2) were more frequent in patients, whereas the C-C and G-T haplotypes were less frequent in patients (P < .05 for each). However, none of the 3 miRNA polymorphisms alone was associated with POF risk. Our findings suggest that putative gene-gene interaction between miR-146 and miR-196a2 may be involved in POF development.
我们研究了 miRNA（miRNA）多态性（miR-146aC>G、miR-196a2T>C 和 miR-499A>G）是否会增加韩国女性发生卵巢早衰（POF）的风险。通过聚合酶链反应-限制性片段长度多态性，对 136 名 POF 患者和 234 名对照者的 DNA 样本进行了 3 个 miRNA 单核苷酸多态性的基因分型。miR-146aCG/miR-196a2TC 复合基因型在患者中的频率低于对照组（P<0.05），提示其易感性较低。通过基于单倍型的多维尺度分析，C-C-A 和 G-T-A 推断的单倍型（miR-146a/miR-196a2/miR-499）在患者中频率较低，提示具有保护作用（P<0.05），而 C-T-A 和 G-C-A 单倍型在患者中频率较高（P<0.05）。miR-146a/miR-196a2 的 C-T 和 G-C 单倍型在患者中频率较高，而 C-C 和 G-T 单倍型在患者中频率较低（P<0.05）。然而，这 3 个 miRNA 多态性单独与 POF 风险均无相关性。我们的研究结果表明，miR-146 和 miR-196a2 之间的潜在基因-基因相互作用可能参与了 POF 的发生发展。
