Distribution of HLA DRB1 and DQB1 alleles and DRB1-DQB1 haplotypes among Bahraini women with polycystic ovary syndrome.

OBJECTIVE

This study investigated the association between HLA-DRB1 and -DQB1 alleles and DRB1-DQB1 haplotypes, and polycystic ovary syndrome (PCOS) in Bahraini women.

DESIGN

Case-control, retrospective study.

METHODS

Study subjects comprised 80 women with PCOS, and 169 age- and ethnically-matched control women. DRB1 and DQB1 genotyping was done by PCR-SSP.

RESULTS

Of the 13 DRB1 alleles and 5 DQB1 alleles identified, DRB110 (14.3% vs. 4.4%) and DRB114 (8.7% vs. 1.1%), along with DQB105 (35.0% vs. 23.9%), were the most frequent alleles in cases, while DRB111 (15.3% vs. 6.8%) was the frequent allele found in controls. The association of PCOS with DRB110 (Pc<0.001), DRB114 (Pc<0.001), DQB105 (Pc=0.040), but not DRB111 (Pc=0.076) persisted after correcting for multiple comparisons. DRB1-DQB1 haplotype analysis identified nine common shared haplotypes in women with PCOS and control women, with a frequency exceeding 1%. Significantly higher frequency of DRB110-DQB105 (12.4% vs. 3.1%) and DRB114-DQB103 (5.6% vs. 1.0%), and reduced frequency of DRB111-DQB103 (4.1% vs. 14.1%) haplotypes were seen in women with PCOS vs. control women, thus assigning PCOS-susceptible and -protective nature to these haplotypes, respectively. This association persisted after controlling for multiple comparisons.

CONCLUSION

Our results confirm an association of HLA-DRB1 and -DQB1 alleles and haplotypes with PCOS susceptibility in Bahraini Arabs, further underscoring the immunological/inflammatory nature of this disorder.