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Article

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

Journal of human genetics - 1 Aug 2013

Hata Yuki, Nakaoka Hirofumi, Yoshihara Kosuke, Adachi Sosuke, Haino Kazufumi, Yamaguchi Masayuki, Nishikawa Nobumichi, Kashima Katsunori, Yahata Tetsuro, Tajima Atsushi, Watanabe Atsushi, Akira Shigeo, Hosomichi Kazuyoshi, Inoue Ituro, Tanaka Kenichi

Abstract excerpt

Our previous genome-wide association study has demonstrated that single-nucleotide polymorphisms (SNPs) located in intronic and downstream regions of IL1A (interleukin 1α) were associated with the risk of endometriosis. These SNPs on the genome-wide association study platform could be only surrogates for the true causal variant. Thus, we resequenced all the exons of IL1A in 377 patients with endometriosis and 457...

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PMID: 23635948
DOI: 10.1038/jhg.2013.32

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