The Association Of The BLK Gene With Sle Was Replicated In Chinese Han

Background Systemic lupus erythematosus (SLE) is an autoimmune disease with various clinical manifestations, involving multiple systems. The pathogenesis has not been entirely cleared. SLE is a polygenic disease, which is related with genetic, immune, viral infections, drugs, hormones and so on. Genetic factor may play an important role in the pathogenesis of SLE. In the past two decades, many groups had mainly revealed of susceptibility genes by genome-wide scanning and candidate gene study, but most results were not consistent.In recent years, as the International HapMap Project had finished and lower-cost, highly efficient and high-throughput genotyping technologies were appeared, the way of searching for the susceptibility gene of complexity disease in the level of genome-wide has become possible. It was also called Genome-wide association study (GWAS).This method has become the most effective method to study complex disease. So far, there are many GWAS about SLE. Harley et al had firstly reported that a single nucleotide polymorphism (SNP) rs13277113 in BLK gene was related to SLE in Europeans (OR=1.39, P=1×10-9). There were 1,311 cases and 3,340 controls in the first stage from North America, 793 cases and 857 controls in the second stage from Sweden. W Yang et al had also replicated that the BLK gene SNP rs13277133(P=1.34×10-5) and rs2248932(P=0.034)are related to SLE. SLE is a complex disease, with strong racial differences and genetic heterogeneity. In order to investigate the association between rs2248932 and SLE in Chinese Han population, we genotyped SNP rs2248932 in 1,396 SLE patients of Chinese Han and 4,362 ethnically matched control subjects by using the Sequenom MassArray system and explored the association between polymorphism of BLK gene and SLE susceptibility in Chinese Han population.Objective To replicated the association between polymorphism of BLK gene and systemic lupus erythematosus (SLE) susceptibility in Chinese Han Population.Methods We genotyped SNP rs2248932 in 1,396 SLE patients of Chinese Han and 4,362 ethnically matched control subjects by using the Sequenom MassArray system, and then used the Plink software for statistical analysis. To detect whether the variant of the SNP rs2248932 was associated with the BLK expression by quantitative realtime RT-PCR on total RNA.Results There were significant differences between cases and normal controls in allele frequencies of single nucleotide polymorphism (SNP) rs2248932 in BLK gene (P=1.41×10-8); Stratified analysis the associations of rs2248932 in BLK with SLE illuminated that case-only analysis in our study did not produce any signicant difference.(P均>0.05). The variant of the SNP rs2248932 was associated with the expression of BLK mRNA.Conclusions It suggests that polymorphism of BLK gene may be related to susceptibility of SLE in Chinese Han Population.