INCREASED RISK FOR POLYCYSTIC-OVARY-SYNDROME ASSOCIATED WITH HUMAN-LEUKOCYTE ANTIGEN DQA1-ASTERISK-0501

OBJECTIVE: The objective of this investigation was to identify genes that confer susceptibility to polycystic ovary syndrome. STUDY DESIGN: Nineteen subjects with polycystic ovary syndrome, hirsutism, and elevated plasma androgen levels and 46 fertile, female control subjects were studied. Alleles at the human leukocyte antigen DQA1 locus were identified with dot-blot hybridizations with allele-specific oligonucleotide probes. Associations between human leukocyte antigen DQA1 alleles and polycystic ovary syndrome were examined with logistic regression analysis. RESULTS: The frequency of the human leukocyte antigen DQA1*0501 was 0.50 and 0.26 in subjects with polycystic ovary syndrome and control subjects, respectively (corrected for multiple comparisons, p = 0.067). Homozygosity for this allele was also increased among subjects with polycystic ovary syndrome (p = 0.054). The odds ratios for having polycystic ovary syndrome associated with the *0501 allele and the *0501/*0501 homozygous genotype were 2.8 and 5.8, respectively. CONCLUSION: These data suggest that a polycystic ovary syndrome susceptibility allele is linked to human leukocyte antigen and that the susceptibility allele is recessive.