Polymorphisms of mitochondrial DNA control region are associated to endometriosis

Marina Paula Andres, Mari Maki Siria Godoy Cardena, M.M.S.G. Cardena, Cíntia Fridman, Cintia Fridman, Sergio Podgaec, Sérgio Podgaec
Journal of assisted reproduction and genetics · 2017 · vol. 35(3) , pp. 533–538 · doi:10.1007/s10815-017-1082-4 · PMID:29124462 · W2767948163
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⚙ AI-generated summary by claude@2026-06+body, 2026-06-08 ⓘ

This study investigated the association of mitochondrial DNA control region polymorphisms with endometriosis, finding certain polymorphisms higher and others lower in endometriosis patients compared to controls.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-08 ⓘ

This case-control study evaluated whether mitochondrial DNA (mtDNA) control-region polymorphisms are associated with endometriosis by comparing women with surgically staged, histologically confirmed endometriosis (n = 90) to controls without endometriosis undergoing gynecological surgery (tubal ligation, leiomyoma, or ovarian cysts; n = 92). mtDNA was extracted from peripheral blood and control-region polymorphisms were identified using Sanger sequencing, with haplogroups assessed relative to the Cambridge Reference Sequence. The endometriosis group showed higher frequencies of polymorphisms T16217C and G499A, while T146C and 573.2C were lower; haplogroups did not differ between groups, and the paper’s limitation is that the analysis was based on peripheral blood mtDNA rather than tissue-specific mtDNA. This paper is centrally about endometriosis — it reports specific associations between mtDNA control-region polymorphisms (T16217C, G499A, T146C, 573.2C) and disease presence/absence.

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Condition tags

endometriosis

MeSH descriptors

DNA, Mitochondrial Endometriosis Polymorphism, Single Nucleotide Adolescent Adult Brazil Case-Control Studies DNA, Mitochondrial Endometriosis Female Gene Frequency Haplotypes Humans Middle Aged Young Adult

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