Genetic factors associated with the co‑occurrence of endometriosis with antiphospholipid syndrome (Review)

Maria I Zervou, Theoni B Tarlatzi, Demetrios A Spandidos, Demetrios�� Spandidos, Basil C Tarlatzis, George Βertsias, George Bertsias, George N Goulielmos
Experimental and therapeutic medicine · 2025 · vol. 30(4) , pp. 1–9 · doi:10.3892/etm.2025.12955 · PMID:40927815 · PMC12415816 · W4413410023
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This review explores the genetic basis for the co-occurrence of endometriosis and antiphospholipid syndrome, investigating shared molecular and pathogenetic mechanisms.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-09 ⓘ

This review investigated the genetic basis for the co-occurrence of endometriosis and antiphospholipid syndrome (APS) by systematically searching the literature for genes implicated in both conditions, including case-control studies, GWAS, whole-genome sequencing, and whole-exome sequencing, while excluding case series, editorials, and conference abstracts. It was motivated by epidemiologic evidence that women with endometriosis have a 2.84-fold higher risk of developing subsequent APS, and it highlights candidate shared genetic risk factors such as specific HLA alleles, SERPINE1 4G/5G polymorphism, MTHFR rs1801133, STAT4 rs7574865, and TLR4 rs4986790, emphasizing pathways involving immune dysregulation, inflammation/interferon-inducible processes, and thrombosis. A key limitation is that, as a review, it synthesizes previously published genetic associations and restricts included evidence to English-language articles from 2000–2025. This paper is centrally about endometriosis — specifically, it delineates genetic factors proposed to explain endometriosis-associated subsequent APS co-occurrence.

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Abstract

Immune-related factors may serve an important role in the development of endometriosis, considering the occurrence of substantial abnormalities in the immune system of women with endometriosis, including reduced T-cell reactivity and natural killer cell cytotoxicity, as well as increased numbers and activation of peritoneal macrophages. Moreover, women suffering from endometriosis are at a higher risk for developing various autoimmune diseases as comorbidities of endometriosis. Recent epidemiological data demonstrate that patients with endometriosis have a significantly higher risk (2.84-fold) of developing subsequent antiphospholipid syndrome (APS) compared with women without endometriosis. These data pose a question about the putative role of a shared genetic background affecting the co-occurrence of these two disorders. Endometriosis is a chronic, complex, inflammatory, estrogen-dependent and progressive gynecological disorder, with an incidence of up to 10% in women of reproductive age, characterized by the growth of endometrial tissue outside the uterine cavity. APS is a systemic autoimmune disorder characterized by the development of thrombotic and/or obstetric complications in the presence of specific types of antibodies, including antiphospholipid antibodies. The present review aims to delineate the genetic basis of the co-occurrence of endometriosis with APS by systematically searching the literature for genes involved in the development of both conditions, with the goal to clarify the underlying shared molecular and pathogenetic mechanisms. This information may contribute to the identification of putative novel therapeutic targets for pharmaceutical intervention in both disorders and the classification of patients with endometriosis in a subgroup with a possibility of developing subsequent APS.

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Condition tags

endometriosis

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (85)

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