Polymorphisms of mitochondrial DNA control region are associated to endometriosis

Marina Paula Andres, Cardena MMSG, Mari Maki Siria Godoy Cardena, M.M.S.G. Cardena, Cintia Fridman, Cíntia Fridman, Sérgio Podgaec, Sergio Podgaec
Journal of assisted reproduction and genetics · 2017 · vol. 35(3) , pp. 533–538 · doi:10.1007/s10815-017-1082-4 · PMID:29124462 · PMC5904057 · 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 · read from full text ⓘ

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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Abstract

PurposePolymorphisms in the control region of mitochondrial DNA (mtDNA) can affect generation of reactive oxygen species and impact in the pathogenesis of endometriosis. This study investigated the association of mtDNA polymorphisms with endometriosis.MethodsPatients were divided in two groups: endometriosis (n = 90) and control (n = 92). Inclusion criteria were as follows: women between 18 and 50 years, with histological diagnosis and surgical staging of endometriosis (endometriosis group) or undergoing gynecological surgery for tubal ligation, leiomyoma, or ovarian cysts, with no evidence of endometriosis (control group). DNA extraction was performed from peripheral blood. Sanger sequencing of mtDNA control region was performed, and polymorphisms were determined comparing the sequences obtained with the Cambridge Reference Sequence.ResultsThe frequency of polymorphisms T16217C (14.4 and 5.4% of endometriosis and control group, respectively; p = 0.049) and G499A (13.3 vs. 4.3%; p = 0.038) was higher in the endometriosis group, while T146C (32.6 vs. 18.9%; p = 0.042) and 573.2C (5.6 vs. 29.3%; p < 0.001) were lower. No difference was observed in haplogroups between groups.ConclusionmtDNA polymorphisms T16217C and G499A were associated with endometriosis, while T416C and 573.2C were shown to be associated with an absence of disease.
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Abstract

Purpose Polymorphisms in the control region of mitochondrial DNA (mtDNA) can affect generation of reactive oxygen species and impact in the pathogenesis of endometriosis. This study investigated the association of mtDNA polymorphisms with endometriosis.

Methods

Patients were divided in two groups: endometriosis (n = 90) and control (n = 92). Inclusion criteria were as follows: women between 18 and 50 years, with histological diagnosis and surgical staging of endometriosis (endometriosis group) or undergoing gynecological surgery for tubal ligation, leiomyoma, or ovarian cysts, with no evidence of endometriosis (control group). DNA extraction was performed from peripheral blood. Sanger sequencing of mtDNA control region was performed, and polymorphisms were determined comparing the sequences obtained with the Cambridge Reference Sequence.

Results

The frequency of polymorphisms T16217C (14.4 and 5.4% of endometriosis and control group, respectively; p = 0.049) and G499A (13.3 vs. 4.3%; p = 0.038) was higher in the endometriosis group, while T146C (32.6 vs. 18.9%; p = 0.042) and 573.2C (5.6 vs. 29.3%; p < 0.001) were lower. No difference was observed in haplogroups between groups.

Conclusion

mtDNA polymorphisms T16217C and G499A were associated with endometriosis, while T416C and 573.2C were shown to be associated with an absence of disease. Similar content being viewed by others

References

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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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