Zhang Jing, Zhu Libo, Huang Xiufeng, Xu Ping, Chen Zhengyun, Huang Qiongshi, Zhang Xinmei
Department of Gynecology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Gynecol Obstet Invest. 2016;81(3):238-43. doi: 10.1159/000439531. Epub 2015 Oct 15.
To determine whether a specific mitochondrial DNA (mtDNA) haplogroup is implicated in the pathogenesis of intrauterine adhesion (IUA).
Peripheral blood samples were collected from 486 women with (case group, n = 154) and without IUA (control group, n = 332) at the Women's Hospital, Zhejiang University School of Medicine. Genomic DNA was extracted from the blood, and the mtDNA haplogroups of Han women M, N and R were determined by sequencing hypervariable mtDNA segments and testing diagnostic polymorphisms in the mtDNA coding region.
Women with mtDNA haplogroup R had an independently increased genetic risk factor for IUA with an OR 1.77 (95% CI 1.16-2.70, p = 0.009) compared with women without. Moreover, repeated intrauterine surgery within 1 month and number of intrauterine operations were both significantly associated with IUA (p < 0.001).
These results suggest that mtDNA haplogroup R, one of the main mtDNA haplogroups in Han population, is a strong independent genetic risk factor for women with IUA.
确定特定的线粒体DNA（mtDNA）单倍群是否与宫腔粘连（IUA）的发病机制有关。
在浙江大学医学院附属妇产科医院，收集了486名患有IUA的女性（病例组，n = 154）和未患IUA的女性（对照组，n = 332）的外周血样本。从血液中提取基因组DNA，并通过对mtDNA高变区进行测序以及检测mtDNA编码区的诊断性多态性来确定汉族女性M、N和R的mtDNA单倍群。
与无mtDNA单倍群R的女性相比，有该单倍群的女性患IUA的遗传风险因素独立增加，比值比为1.77（95%可信区间1.16 - 2.70，p = 0.009）。此外，1个月内反复进行宫腔手术以及宫腔手术次数均与IUA显著相关（p < 0.001）。
这些结果表明，mtDNA单倍群R是汉族人群主要的mtDNA单倍群之一，是IUA女性的一个强大的独立遗传风险因素。
