Association of HLA-DRB1, DQA1 and DQB1 alleles and haplotypes with common variable immunodeficiency in iranian patients

ABSTRACT

Common Variable Immunodeficiency [CVID] is an antibody deficiency syndrome that often co-occurs in families with selective IgA deficiency [IgAD]. This study was designed to investigate the frequency of DR and DQ loci of HLA class II region in common variable immunodeficiency [CVID] patients. Fifteen Iranian patients with CVID or IgAD [mean age 14.6 +/- 5.4, range 4-25 years; 9 male and 6 female] and 63 healthy controls were studied. Establishment of B-lymphoblastoid cell lines was performed using Epstein-Barr-virus [EBV] immortalization technique and HLA alleles were typed using polymerase chain reaction based on sequence specific primers [PCR-SSP]. DRB1 alleles including DRB1 *04 [p=0.03] and DRB1 *11 [p=0.01] significantly showed higher frequency in the studied subjects. In contrast, DRB1 *301 [p=0.04] and DRB1 *07 [p=0.02] alleles were negatively associated with CVID. For DQB1 and DQA1 loci, DQB1 *0302 [p=0.047] and DQA1 *03011 [p=0.001] demon-strated high frequency in cases, while DQB1 *0201 [p=0.02] and DQA1 *0201 [p=0.01] were detected to be low when compared to controls. Haplotype analysis indicated that frequency of DRB1*04-DQB1*03011-DQA1 *03011 [p=0.02], DRB1 *11-DQB1 *03011-DQA1 *0505 [p=0.047], DRB1 *11-DQA1 *0505 [p=0.04] and DRB1*04-DQA1*03011 [p=0.02] haplotypes were significantly higher in patient group, while only the frequency of the DRB1 *07-DQA1 *0201 haplotype gene was statistically lower in control group [p=0.02]. According to the results, it could be deduced that the HLA-DR and DQ loci may contribute to the pathogenesis of CVID or they might be considered as suitable markers for the possibility of the occurrence of this genetic defect