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Two Functional Lupus-Associated BLK Promoter Variants Control Cell-Type- and Developmental-Stage-Specific Transcription

Title
Two Functional Lupus-Associated BLK Promoter Variants Control Cell-Type- and Developmental-Stage-Specific Transcription
Author
배상철
Keywords
GENOME-WIDE ASSOCIATION; B LYMPHOID KINASE; SUSCEPTIBILITY LOCI; SJOGRENS-SYNDROME; GENOTYPE DATA; CHINESE HAN; ERYTHEMATOSUS; GENE; PROTEIN; EXPRESSION
Issue Date
2014-03
Publisher
Elsevier Science B.V
Citation
American Journal of Human Genetics, 2014, 94(4), P.586-598
Abstract
Efforts to identify lupus-associated causal variants in the FAM167A/BLK locus on 8p21 are hampered by highly associated noncausal variants. In this report, we used a trans-population mapping and sequencing strategy to identify a common variant (rs922483) in the proximal BLK promoter and a tri-allelic variant (rs1382568) in the upstream alternative BLK promoter as putative causal variants for association with systemic lupus erythematosus. The risk allele (T) at rs922483 reduced proximal promoter activity and modulated alternative promoter usage. Allelic differences at rs1382568 resulted in altered promoter activity in B progenitor cell lines. Thus, our results demonstrated that both lupus-associated functional variants contribute to the autoimmune disease association by modulating transcription of BLK in B cells and thus potentially altering immune responses.
URI
https://www.cell.com/ajhg/fulltext/S0002-9297(14)00110-4http://repository.hanyang.ac.kr/handle/20.500.11754/71208
ISSN
0002-9297
DOI
10.1016/j.ajhg.2014.03.008
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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