Shared Molecular Genetic Mechanisms Underlie Endometriosis and Migraine Comorbidity

Emmanuel O Adewuyi, Yadav Sapkota, International Endogene Consortium Iec, Asa Auta, andMe Research Team, Kosuke Yoshihara, Mette Nyegaard, International Headache Genetics Consortium Ihgc, Lyn R Griffiths, Grant W Montgomery, Daniel I Chasman, Dale R Nyholt
Genes · 2020 · vol. 11(3) , pp. 268 · doi:10.3390/genes11030268 · PMID:32121467 · W3010571168
review OA: gold CC0 ⤵ 41 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

Genome-wide association study data reveal shared genetic mechanisms underlie endometriosis and migraine comorbidity, suggesting non-causal but genetically correlated traits.

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Abstract

Observational epidemiological studies indicate that endometriosis and migraine co-occur within individuals more than expected by chance. However, the aetiology and biological mechanisms underlying their comorbidity remain unknown. Here we examined the relationship between endometriosis and migraine using genome-wide association study (GWAS) data. Single nucleotide polymorphism (SNP) effect concordance analysis found a significant concordance of SNP risk effects across endometriosis and migraine GWAS. Linkage disequilibrium score regression analysis found a positive and highly significant genetic correlation (rG = 0.38, P = 2.30 × 10−25) between endometriosis and migraine. A meta-analysis of endometriosis and migraine GWAS data did not reveal novel genome-wide significant SNPs, and Mendelian randomisation analysis found no evidence for a causal relationship between the two traits. However, gene-based analyses identified two novel loci for migraine. Also, we found significant enrichment of genes nominally associated (Pgene < 0.05) with both traits (Pbinomial-test = 9.83 × 10−6). Combining gene-based p-values across endometriosis and migraine, three genes, two (TRIM32 and SLC35G6) of which are at novel loci, were genome-wide significant. Genes having Pgene < 0.1 for both endometriosis and migraine (Pbinomial-test = 1.85 ×10−°3) were significantly enriched for biological pathways, including interleukin-1 receptor binding, focal adhesion-PI3K-Akt-mTOR-signaling, MAPK and TNF-α signalling. Our findings further confirm the comorbidity of endometriosis and migraine and indicate a non-causal relationship between the two traits, with shared genetically-controlled biological mechanisms underlying the co-occurrence of the two disorders.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Endometriosis Genetic Predisposition to Disease Migraine Disorders Adult Aged Comorbidity Endometriosis Endometriosis Endometriosis Female Genome-Wide Association Study Humans Linkage Disequilibrium Linkage Disequilibrium Mendelian Randomization Analysis Middle Aged Migraine Disorders Migraine Disorders Migraine Disorders Phenotype

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