• C Ober, S Weil, T Steck, C Billstrand, S Levrant, and R Barnes.
• Department of Obstetrics and Gynecology, Chicago Lying-In Hospital, University of Chicago, IL 60637.
• Am. J. Obstet. Gynecol. 1992 Dec 1; 167 (6): 1803-6.

ObjectiveThe objective of this investigation was to identify genes that confer susceptibility to polycystic ovary syndrome.Study DesignNineteen 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.ResultsThe 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.ConclusionThese data suggest that a polycystic ovary syndrome susceptibility allele is linked to human leukocyte antigen and that the susceptibility allele is recessive.

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