Association of HLA class I and class II alleles with susceptibility to endometriosis

Jo Kitawaki, Kitawaki J, Obayashi H, Hiroshi Obayashi, Noriko Kado, Kado N, Hiroaki Ishihara, Ishihara H, Hisato Koshiba, Koshiba H, Etsuko Maruya, Maruya E, Hiroh Saji, Saji H, Ohta M, Mitsuhiro Ohta, Hasegawa G, Goji Hasegawa, Nakamura N, Naoto Nakamura, Yoshikawa T, Toshikazu Yoshikawa, Honjo H, Hideo Honjo
Human immunology · 2002 · vol. 63(11) , pp. 1033–1038 · doi:10.1016/s0198-8859(02)00438-x · PMID:12392856 · W2050074853
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This study investigated the link between specific HLA class I and class II alleles and the risk of developing endometriosis.

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Abstract

Although the exact etiology of endometriosis is unclear, several lines of evidence support roles for both cell-mediated and humoral immunity in its pathogenesis. To assess the association between HLA genotypes and endometriosis, we investigated the frequencies of HLA-A, -B, -C, and -DRB1 antigens or alleles in 123 Japanese patients with endometriosis and 165 healthy women as controls. Significant positive association with endometriosis was observed for HLA-B7 (OR = 2.7, 95% CI = 1.5-5.1, p(u) = 0.0022, p(c) = 0.0440) and for Cw*0702 (OR = 2.1, 95% CI = 1.2-3.3, p(u) = 0.0026, p(c) = 0.0398). An increased frequency of DRB1*0101 was observed in endometriosis patients compared with control subjects (OR = 2.3, 95% CI = 1.2-4.4, p(u) = 0.0143), but was not statistically significant after correction for multiple comparisons. Two-locus analysis indicated that the susceptibility to endometriosis was primarily associated with B7, and that the increased frequencies of Cw*0702 and DRB1*0101 in patients reflected the linkage disequilibrium between B7 and Cw*0702 and DRB1*0101. Most of the B7 antigens were encoded by the B*0702 allele, which was in complete linkage disequilibrium with A24, Cw*0702, and DRB1*0101. Therefore, our results indicated that the HLA-A24-B*0702-Cw*0702-DRB1*0101 haplotype was associated with endometriosis susceptibility. Our findings may provide an important clue to elucidating the pathogenesis of endometriosis.

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Condition tags

endometriosis

MeSH descriptors

Alleles Endometriosis Genes, MHC Class I Genes, MHC Class II Genetic Predisposition to Disease Adult Endometriosis Endometriosis Female Gene Frequency Haplotypes HLA-A24 Antigen HLA-A Antigens HLA-A Antigens HLA-B7 Antigen HLA-B7 Antigen HLA-DR Antigens HLA-DR Antigens HLA-DRB1 Chains Humans

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References (25)

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