Association of BLK and BANK1 gene polymorphisms with systemic lupus erythematous in Egyptian patients.

This study examined the genotype, allelic frequencies (polymorphisms) in a sample of Egyptian patients and examined the relationship between disease activity in systemic lupus erythematosus (SLE) and the B lymphoid tyrosine kinase (BLK) and B-cell scaffold protein with ankyrin repeats 1 (BANK1) gene. This case control study involved 70 SLE patients and 40 subjects matched for age and sex as a control group. Clinical data were gathered from each participant, including SLE-related clinical activity indicators. Utilizing the restriction fragment length polymorphism (RFLP)-polymerase chain reaction (PCR), the single nucleotide polymorphisms (SNPs) BLK rs13277113G/A and BANK1 rs10516487G/A were assessed. The most prevalent genotype among the study participants was BLK rs13277113; G/G (57.1%), and BANK rs10516487; GG/ genotype (74.3%). There were no substantial variations in the incidence of genotype and allelic polymorphism between patients and controls (p>0.05). In the studied SLE patients, however, there was no significant association between both alleles (BANK rs10516487 gene alleles, G/G and G/A and BLK rs13277113, G/A, G/G and A/A) and the SLE disease activity score. While there was a significant association between BLK rs13277113 genotype alleles and age. In conclusion, BLK rs13277113 G/A and BANK1 rs10516487 G/A alleles showed no difference between SLE Egyptian patients compared to controls with no link between both genes and SLE disease activity.