Candidate genes for age at menarche are associated with endometriosis
Open accessAbstract
Research question Are the candidate genes for age at menarche associated with a risk of endometriosis?Design Fifty-two candidate single nucleotide polymorphisms (SNP) for age at menarche, their gene-gene and gene-environment interactions were analysed for possible association with endometriosis in a sample of 395 patients and 981 controls. Association of the polymorphisms was analysed using logistic regression according to three main genetic models (additive, recessive and dominant). The gene-gene and gene-environment interactions were analysed for the second-, third- and fourth-order models with adjustment for covariates and multiple comparisons with subsequent cross-validation.Results Sixteen SNP for age at menarche out of the 52 studied were associated with endometriosis. Polymorphism rs6589964 BSX was associated with endometriosis according to the additive and recessive models (OR 1.27-1.47, P perm ≤ 0.006). Fourteen SNP were associated with the disease within 12 most significant models of gene-gene interactions (P perm ≤ 0.008). Twelve SNP involved in 10 most significant models of SNP-induced abortion interactions are associated with endometriosis. Fourteen of the 16 polymorphisms associated with endometriosis demonstrated pleiotropic effects: they were also associated with either age at menarche (7 SNP) or height and/or body mass index (10 SNP) in the studied sample. The 16 SNP associated with endometriosis and 316 SNP linked to them have regulatory and expression quantitative trait locus significance for 28 genes contributing to the G alpha signal pathway (fold enrichment 31.09, P FDR = 0.001) and responses to endogenous stimuli (fold enrichment 16.01, P FDR = 0.027).Conclusions Sixteen SNP for age at menarche out of the 52 studied were associated with endometriosis.
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Women with endometriosis show evidence of earlier menarche, lower postnatal serum testosterone, and shorter, more regular menstrual cycles than controls.
“These results parallel many of the patterns observed clinically among women with endometriosis, who, in addition to exhibiting shorter AGDs, also show evidence of earlier menarche, lower postnatal serum testosterone, and shorter, more regular menstrual cycles than controls.21,28–30”
From Prenatal Origins of Endometriosis Pathology and Pain: Reviewing the Evidence of a Role for Low Testosterone (2023) · cites this paper as [29]
Table 1 (page unavailable) shows shorter menstrual cycles in the endometriosis group, but virtually identical ages at menarche in cases and controls. The Introduction notes mixed evidence on early menarche, including a meta-analysis finding a slight increase in risk. The paper does not report lower postnatal serum testosterone or more regular cycles in women with endometriosis. (LLM, conf=0.90)
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References 66 · Cited by 49
Research works printed but not linked: 1
- Abreu, A.P., Kaiser, U.B Pubertal development and regulation. Lancet. Diabetes. Endocrinol. 2016; 3: 254-264
- Authors
- Ponomarenko, I., Reshetnikov, E., Polonikov, A., Verzilina, I., Sorokina, I., Elgaeva, E. E., Tsepilov, Y. A., Yermachenko, A., Dvornyk, V., & Churnosov, M.
- Affiliations
- Belgorod National Research University (RU)
- Kursk State Medical University (RU)
- Novosibirsk State University (RU)
- Sorbonne Université (FR)
- Alfaisal University (SA)
- ORCID
- Venue
- Reproductive BioMedicine Online
- Publisher
- Elsevier BV
- Published
- 2020-11
- Volume
- 41
- Issue
- 5
- Pages
- 943-956
- ISSN
- 1472-6483 (ISSN-L)
- OpenAlex
- W3024287329
- Cited by
- 49
- References
- 66
- Citations by year
- 2026: 1 · 2024: 4 · 2023: 11 · 2022: 18 · 2021: 15
- FWCI
- 9.69
- Type
- journal article
- Language
- en
- Open access
- green
- dspace.bsu.edu.ru
- Locations
- Reproductive BioMedicine Online (publishedVersion)
- PubMed (publishedVersion)
- Open Access Repository (Belgorod State National Research University) (submittedVersion)
- Funders
- Ministry of Education and Science of the Russian Federation
- Federal Agency for Scientific Organizations (0324-2019-0040-C-01 / AAAA-A17-117092070032-4)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ectopic Pregnancy Diagnosis and Management
- Keywords
- endometriosis, age at menarche, candidate genes, single nucleotide polymorphisms, gene-gene interaction, gene-environment interaction, abortion, pleiotropy, expression quantitative trait loci, body mass index, height
- MeSH terms
- Adult, Age Factors, Endometriosis, Female, Humans, Menarche, Middle Aged, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Gene-Environment Interaction
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