标题：Polymorphisms and haplotype of mitochondrial DNA D-loop region are associated with polycystic ovary syndrome in a Chinese population
中文标题：在中国人群中，线粒体脱氧核糖核酸 D-loop 区域的多态性和单体型与多囊卵巢综合症相关
引用信息：Deng X, Ji D, Li X, Xu Y, Cao Y, Zou W, Liang C, Lee Marley J, Zhang Z, Wei Z, Zhou P, Liu Y, Cao Y. Polymorphisms and haplotype of mitochondrial DNA D-loop region are associated with polycystic ovary syndrome in a Chinese population. Mitochondrion. 2021 Mar;57:173-181. doi: 10.1016/j.mito.2020.12.006. Epub 2020 Dec 30. PMID: 33385542.
摘要：Polymorphisms in mitochondrial DNA (mtDNA) have been linked to a range of diseases. Here we investigate the relationship between mtDNA D-loop region polymorphisms, mtDNA haplotype and polycystic ovary syndrome (PCOS), as well as the correlation of D-loop variants and clinical characteristics of PCOS, in a Chinese population. The mtDNA D-loop of whole blood samples from 421 PCOS patients and 409 controls underwent next generation sequencing. The variants G207A (PBH＜0.05), 16036GGins (PBH＜0.05) and 16049Gins (PBH＜0.001) were associated with decreased risk of PCOS. No variants were associated with PCOS, and within the PCOS group, no statistical significance was found between D-loop polymorphisms and clinical characteristics. Patient haplotype was identified from D-loop single nucleotide polymorphisms and analysis suggested that haplotype A15 (P adjusted ＜0.01) was significantly associated with decreased risk of PCOS. In conclusion, mtDNA D-loop alterations and haplotype appear to confer resistance to PCOS in Chinese women.
中文摘要：线粒体脱氧核糖核酸(mtDNA)的多态性与一系列疾病有关。在这里，我们研究了中国人群中线粒体 DNA d- 环区域多态性、线粒体 DNA 单倍型和多囊卵巢综合症之间的关系，以及 d- 环变异与多囊卵巢综合征临床特征的相关性。对421例多囊卵巢综合征(PCOS)患者和409例对照者的全血线粒体 DNA D 环进行了下一代测序。变体 G207A (PBH < 0.05) ，16036GGins (PBH < 0.05)和16049Gins (PBH < 0.001)与 PCOS 风险降低相关。没有变异与 PCOS 相关，在 PCOS 组中，D- 环多态性与临床特征之间没有统计学意义。从 D- 环单核苷酸多态性中鉴定出患者单倍型，分析表明 A15单倍型(P 调整 < 0.01)与 PCOS 风险降低显著相关。总之，线粒体 DNA D- 环的改变和单倍型似乎赋予中国妇女对 PCOS 的抗性。
原文链接：
https://www.sciencedirect.com/science/article/abs/pii/S1567724920302294?via%3Dihub
