标题：Association between mitochondrial DNA D-loop region polymorphisms and endometriosis in a Chinese population
中文标题：中国子宫内膜异位症患者线粒体脱氧核糖核酸 D 环区域多态性与子宫内膜异位症的关系
引用信息：Li X, Ji D, Marley JL, Zou W, Deng X, Cao Y, Zhang Z, Liu Y, Wei Z, Zhou P, Cao Y. Association between mitochondrial DNA D-loop region polymorphisms and endometriosis in a Chinese population. J Assist Reprod Genet. 2020 Sep;37(9):2171-2179. doi: 10.1007/s10815-020-01853-z. Epub 2020 Jun 14. PMID: 32535813; PMCID: PMC7492337.
摘要：
Objective:To investigate the correlation between endometriosis and mitochondrial DNA (mtDNA) D-loop single nucleotide polymorphisms (SNPs) and haplotype, as well as the predictive power of certain SNPs in reproductive outcomes in a Chinese Han population.
Methods:A case-control study was conducted in which 125 endometriosis patients and 124 controls were recruited from an academic fertility center. The entire 1124-bp D-loop region of mtDNA of whole blood samples from all subjects was amplified, sequenced, and compared with the revised Cambridge Reference Sequence (rCRS) to identify SNPs and haplotypes. The association between D-loop SNPs and embryo quality and clinical outcome following in vitro fertilization (IVF) was also assessed.
Results:A total of 321 polymorphisms were identified by sequencing, allowing comparison of the D-loop between endometriosis patients and controls. The frequency of the AC523-524 del, T16172C, and C16290T variants were significantly higher, while the frequency of polymorphisms T195C, 573XCins, 16036Gins, 16049Gins, T16140C, A16183C, T16189C, and 16193Cins were lower, in the endometriosis group compared with the control group (p < 0.05). Within the endometriosis group, the high-quality blastocyst rate in the 16,290T subgroup was significantly lower than that in the 16290C subgroup (p < 0.05). In the control group, 16519C carriers showed a lower rate of high-quality blastocyst development compared with 16519T (p < 0.05). In endometriosis patients clinical pregnancy rate was significantly lower in the 150T subgroup compared with the 150C subgroup (p < 0.05).
Discussion:Data confirms a correlation between D-loop polymorphisms and endometriosis. The polymorphisms AC523-524 del, T16172C, and C16290T are associated with increased risk of endometriosis, while T195C, 573XCins, 16036Gins, 16049Gins, T16140C, A16183C, T16189C, and 16193Cins are associated with decreased risk of endometriosis. In addition, C16290T and T16519C can be associated with poor quality blastocyst development in population with and without endometriosis, respectively and C150T can be a predictor of poor IVF outcome.
中文摘要：
目的: 研究中国汉族人群子宫内膜异位症与线粒体脱氧核糖核酸(mtDNA) d 环单核苷酸多态性(sNPs)和单倍型的相关性，以及某些 sNPs 对生殖结局的预测能力。
方法: 从一个学术生育中心招募了125名子宫内膜异位症患者和124名正常病例对照研究。对来自所有受试者的全血样本 mtDNA 的整个1124 bp D-loop 区域进行扩增和测序，并与修订后的剑桥参考基因组(rCRS)进行比较，以鉴定 SNP 和单倍型。研究还评估了 D 环 SNP 与胚胎质量和体外人工受精(IVF)后临床结果之间的关系。
结果: 通过测序共鉴定出321个多态性，可以比较子宫内膜异位症患者和对照组之间的 D 环。子宫内膜异位症组 AC523-524 del，T16172C 和 C16290T 变异的频率显着高于对照组(p < 0.05) ，而多态性 T195C，573XCins，16036Gins，16049Gins，T16140C，A16183C，T16189C 和16193Cins 的频率较低。在子宫内膜异位症组中，16,290 T 亚组的优质囊胚率显着低于16290C 亚组(p < 0.05)。在对照组中，16519C 携带者的优质胚泡发育率低于16519T 携带者(p < 0.05)。在子宫内膜异位症患者中，150T 亚组的临床妊娠率明显低于150C 亚组(p < 0.05)。
讨论: 数据证实了 D 环多态性与子宫内膜异位症之间的相关性。AC523-524 del，T16172C 和 C16290T 多态性与子宫内膜异位症风险增加有关，而 T195C，573XCins，16036Gins，16049Gins，T16140C，A16183C，T16189C 和16193Cins 与子宫内膜异位症风险降低有关。此外，C16290T 和 T16519C 分别与有和没有子宫内膜异位症的人群中质量差的囊胚发育相关，C150T 可以预测不良的 IVF 结果。
原文链接：
https://link.springer.com/article/10.1007/s10815-020-01853-z
