Congenital Adrenal Hyperplasia and Human Leukocyte Antigen B: A Meta-Analysis

The link between specific human leukocyte antigen (HLA)-B genes and congenital adrenal hyperplasia (CAH) has been a subject of interest. This study investigates the association between specific HLA-B haplotypes and CAH through a meta-analysis. Google Scholar was used as a database. Articles were included if the research was conducted between 1970 and 2022, was not a meta-analysis, and had odds ratios or enough data points to calculate an odds ratio. The National Institutes of Health (NIH) quality assessment tool of case-control studies was used to evaluate the risk of bias in individual studies, and MetaXL was used to generate data and create a forest plot for analysis. Twelve studies met the selection criteria and were included in the study (641 patients and 3,614 controls). Two HLA-B haplotypes showed increased odds of CAH compared to controls: B14 (OR=3.81; 95%CI=2.88, 5.05; I(2)=3%) and B35 (OR=1.88; 95%CI=1.22, 2.90; I(2)=25%). All other HLAs either showed no significant effect or had high heterogeneity. The results suggest that specific HLA-B haplotypes have increased odds of developing CAH, specifically B14 and B35. These findings may prove helpful in the pre- and post-natal diagnosis of CAH as well as the identification of carriers and prediction of patient prognosis.