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.

Abstract

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.

Keywords: D-Loop region; Haplotype; Mutation; PCOS; mtDNA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • China / ethnology
  • DNA, Mitochondrial / chemistry*
  • DNA, Mitochondrial / genetics*
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Haplotypes
  • Humans
  • Models, Molecular
  • Nucleic Acid Conformation
  • Polycystic Ovary Syndrome / genetics*
  • Polymorphism, Single Nucleotide*

Substances

  • DNA, Mitochondrial