rs2248932
This is a regulatory region variant variant in the BLK gene.
▶Research that mentions this SNP (1)
▶The association of the BLK gene with SLE was replicated in Chinese HanAssociationN=5,758Zheng Zhang et al.(2010)· Archives of Dermatological Research
Replication study confirming association of rs2248932 in BLK gene with systemic lupus erythematosus (SLE) in 1,396 Chinese Han patients and 4,362 controls (P = 1.41 × 10^-8, OR = 0.74, 95% CI: 0.66-0.82). The T allele was the major risk allele in Chinese Han population with allele frequency 74.4%, contrasting with Caucasian populations. The risk C allele correlated with lower BLK mRNA expression levels, but no associations were found with specific SLE subphenotypes.
About BLK
This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]
View all BLK variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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