Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing

Imane Lalami, Carole Abo, Bruno Borghese, Charles Chapron, Daniel Vaiman
International journal of molecular sciences · 2021 · vol. 22(14) , pp. 7297 · doi:10.3390/ijms22147297 · PMID:34298916 · PMC8304276 · W3178186334
review OA: gold CC0 ⤵ 28 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-09 ⓘ

This review summarizes current genomic research on endometriosis, highlighting GWAS findings, identified risk loci, and the ongoing need for larger studies and exome sequencing to explain the disease's heritability.

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Abstract

This review aims at better understanding the genetics of endometriosis. Endometriosis is a frequent feminine disease, affecting up to 10% of women, and characterized by pain and infertility. In the most accepted hypothesis, endometriosis is caused by the implantation of uterine tissue at ectopic abdominal places, originating from retrograde menses. Despite the obvious genetic complexity of the disease, analysis of sibs has allowed heritability estimation of endometriosis at ~50%. From 2010, large Genome Wide Association Studies (GWAS), aimed at identifying the genes and loci underlying this genetic determinism. Some of these loci were confirmed in other populations and replication studies, some new loci were also found through meta-analyses using pooled samples. For two loci on chromosomes 1 (near CCD42) and chromosome 9 (near CDKN2A), functional explanations of the SNP (Single Nucleotide Polymorphism) effects have been more thoroughly studied. While a handful of chromosome regions and genes have clearly been identified and statistically demonstrated as at-risk for the disease, only a small part of the heritability is explained (missing heritability). Some attempts of exome sequencing started to identify additional genes from families or populations, but are still scarce. The solution may reside inside a combined effort: increasing the size of the GWAS designs, better categorize the clinical forms of the disease before analyzing genome-wide polymorphisms, and generalizing exome sequencing ventures. We try here to provide a vision of what we have and what we should obtain to completely elucidate the genetics of this complex disease.

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Condition tags

endometriosisinfertility

MeSH descriptors

Endometriosis Exome Animals Endometriosis Exome Exome Sequencing Exome Sequencing Female Genetic Predisposition to Disease Genetic Predisposition to Disease Genome-Wide Association Study Genome-Wide Association Study Genomics Genomics Genotype Humans Polymorphism, Single Nucleotide Polymorphism, Single Nucleotide

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References (100)

Cited by (28)

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