Authors: Hui Zhang Liqun Wang Yong Huang Chao Zhuang Gongyin Zhao Ruiping Liu Yong Wang
Publish Date: 2012/06/28
Volume: 39, Issue: 11, Pages: 9965-9970
Abstract
B cell lymphocyte kinase BLK encodes a member of the Src kinase family and thus may influence the proliferation and differentiation of cells A single nucleotide polymorphism SNP located in the first intron of BLK has shown that the risk C allele of rs2248932 is associated with lower levels of messenger RNA expression of BLK We hypothesized that this polymorphism may contribute to rheumatoid arthritis RA susceptibility We studied BLK rs2248932 T/C gene polymorphisms in 329 patients with RA and 697 controls in a Chinese population Genotyping was done using matrixassisted laser desorption/ionization timeofflight mass spectrometry MALDITOFMS When the BLK rs2248932 TT homozygote genotype was used as the reference group the CC genotype was associated with a significantly increased risk of RA In the recessive model when the BLK rs2248932 TT/TC genotypes were used as the reference group the CC homozygote genotype was associated with a significantly increased susceptibility to RA In stratification analyses a significantly increased risk for RA associated with the BLK rs2248932 CC genotype was evident among younger patients CRPnegative patients and antiCCPpositive patients compared with the BLK rs2248932 TT/TC genotype The risk was also significantly evident among RFpositive patients patients with lower ESR levels patients with lower or higher DAS28 score and patients with a lower functional class These findings suggested that the functional SNP BLK rs2248932 T/C variant allele was associated with RA development However our results were obtained from a moderatesized sample and therefore this is a preliminary conclusion Validation in a larger study from a more diverse ethnic population is needed to confirm these findings
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