Objective: To study the genetic susceptibility in patients with endometriosis by genotyping their human leukocyte antigen-DQA1 (HLA-DQA1) alleles.
Methods: The allelic types of HLA-DQA1 were detected by polymerase chain reaction single specific primers (PCR-SSP) technique in 51 patients with endometriosis proven by laparoscopy or histological examination, and 44 control women who had laparoscopic sterilization and without endometriosis.
Results: The frequency of HLA-DQA * 0401 allele (12%) in patients with endometriosis group was markedly higher than that in the control group (0%) (P = 0.019). Contrarily, the frequency of HLA-DQA1 * 0301 allele (39%) in control group was higher than that in endometriosis group (14%) (P = 0.005, odds ratio = 0.253).
Conclusion: Our result indicated that HLA-DQA1 * 0401 may be a susceptible gene in correlation with endometriosis, whereas HLA-DQA1 * 0301 may be a protective gene against endometriosis.