Results
| PMID | 12392856 |
| Gene Name | HLA-A |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | HLA-A24-B*0702-Cw*0702-DRB1*0101 haplotype |
| Population size | 288 |
| Population details | 288(123 Japanese patients with endometriosis, 165 healthy women as controls) |
| Sex | Female |
| Other associated phenotypes |
Endometriosis |
|
Hum Immunol. 2002 Nov;63(11):1033-8. Kitawaki, Jo| Obayashi, Hiroshi| Kado, Noriko| Ishihara, Hiroaki| Koshiba, Hisato| Maruya, Etsuko| Saji, Hiroh| Ohta, Mitsuhiro| Hasegawa, Goji| Nakamura, Naoto| Yoshikawa, Toshikazu| Honjo, Hideo Department of Obstetrics and Gynecology, Kyoto, Japan. kitawaki@koto.kpu-m.ac.jp 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. Mesh Terms: Adult| *Alleles| Endometriosis/genetics/*immunology| Female| Gene Frequency| *Genes, MHC Class I| *Genes, MHC Class II| *Genetic Predisposition to Disease| HLA-A Antigens/genetics| HLA-A24 Antigen| HLA-B7 Antigen/genetics| HLA-DR Antigens/genet |
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