A nonsynonymous variant of IL1A is associated with endometriosis in Japanese population

Yuki Hata, Hirofumi Nakaoka, Kosuke Yoshihara, Sosuke Adachi, Kazufumi Haino, Masayuki Yamaguchi, Nobumichi Nishikawa, Katsunori Kashima, Tetsuro Yahata, Atsushi Tajima, Atsushi Watanabe, Shigeo Akira, Kazuyoshi Hosomichi, Ituro Inoue, Kenichi Tanaka
Journal of human genetics · 2013 · vol. 58(8) , pp. 517–520 · doi:10.1038/jhg.2013.32 · PMID:23635948 · W1975170977
article OA: bronze CC0 ⤵ 13 in-corpus citations
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⚙ AI-generated summary by claude@2026-06+body, 2026-06-07 ⓘ

A nonsynonymous variant in IL1A (rs17561) was significantly associated with endometriosis risk in Japanese populations through case-control studies and meta-analysis.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 ⓘ

The paper investigated whether an IL1A variant is causally linked to endometriosis in a Japanese population by resequencing all IL1A exons in 377 patients with endometriosis and 457 healthy controls, following earlier GWAS findings that implicated intronic/downstream IL1A SNPs. The authors found that rare IL1A variants (minor allele frequency <0.01) were not associated with endometriosis, while four common IL1A SNPs in a linkage disequilibrium block were significantly associated; among them, only rs17561 was nonsynonymous (p.A114S). Association for rs17561 was replicated in an independent validation set (524 cases, 533 controls) and strengthened by meta-analysis (rs17561 P=2.5×10−7), though the study could not demonstrate functional causality beyond genetic association and resequencing of exons only. This paper is centrally about endometriosis — it identifies and replicates an IL1A nonsynonymous variant (rs17561, p.A114S) associated with endometriosis risk in Japanese individuals.

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Condition tags

endometriosis

MeSH descriptors

Asian People Endometriosis Genetic Association Studies Genetic Predisposition to Disease Interleukin-1alpha Polymorphism, Single Nucleotide Asian People Case-Control Studies Endometriosis Female Gene Frequency Gene Frequency Humans Interleukin-1alpha Japan Meta-Analysis as Topic Polymorphism, Single Nucleotide Reproducibility of Results

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