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

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.

• Authors: Jo Kitawaki, Hiroshi Obayashi, Noriko Kado, Hiroaki Ishihara, Hisato Koshiba, Etsuko Maruya, Hiroh Saji, Mitsuhiro Ohta, Goji Hasegawa, Naoto Nakamura, Toshikazu Yoshikawa, Hideo Honjo
• Journal: Human immunology (Hum Immunol) Vol. 63 Issue 11 Pg. 1033-8 (Nov 2002) ISSN: 0198-8859 [Print] United States
• PMID: 12392856 (Publication Type: Journal Article)

Chemical References

• HLA-A Antigens
• HLA-A24 Antigen
• HLA-B7 Antigen
• HLA-DR Antigens
• HLA-DRB1 Chains

Topics

• 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 (genetics)
• HLA-DRB1 Chains
• Haplotypes
• Humans
• Linkage Disequilibrium
• Middle Aged