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Polymorphisms and haplotype of mitochondrial DNA D-loop region are associated with polycystic ovary syndrome in a Chinese population

Lookup NU author(s): Jordan Marley

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Abstract

© 2020 Elsevier B.V. and Mitochondria Research SocietyPolymorphisms 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.

Publication metadata

Author(s): Deng X, Ji D, Li X, Xu Y, Cao Y, Zou W, Liang C, Marley JL, Zhang Z, Wei Z, Zhou P, Liu Y, Cao Y

Publication type: Article

Publication status: Published

Journal: Mitochondrion

Year: 2021

Volume: 57

Pages: 173-181

Print publication date: 01/03/2021

Online publication date: 30/12/2020

Acceptance date: 16/12/2020

ISSN (print): 1567-7249

ISSN (electronic): 1872-8278

Publisher: Elsevier B.V.

URL: https://doi.org/10.1016/j.mito.2020.12.006

DOI: 10.1016/j.mito.2020.12.006

PubMed id: 33385542

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