The association of the BLK gene with SLE was replicated in Chinese Han.
Systemic lupus erythematosus (SLE) is an autoimmune disease influenced by genetic and environmental factors. Recently, single nucleotide polymorphisms (SNPs) in the region of B lymphoid tyrosine kinase (BLK) have been shown to be associated with SLE in Caucasian population. In this paper, 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. We confirmed that SNP rs2248932 in BLK gene was significantly associated with SLE (P = 1.41 x 10(-8) for the allele frequency, Odds ratio [OR] = 0.74, 95% confidence interval (CI): 0.66-0.82).The association of BLK in Chinese SLE patients was consistent with a dominant model (P = 8.88 x 10(-9), OR = 0.69, 95% CI: 0.61-0.79). In contrast to the Caucasian, this risk allele was the major allele in the Chinese Han; the risk allele frequency was higher in Chinese Han than in Caucasian. We did not find the association between this SNP and any subphenotype of SLE. The SNP rs2248932 was correlated to the expression of BLK mRNA. We conclude that the association of the BLK region with SLE was replicated in Chinese Han population living in mainland.
Department of Dermatology, Institute of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, People's Republic of China.
Zheng
Z
Zhang
Kun-Ju
KJ
Zhu
Qiang
Q
Xu
Xue-Jun
XJ
Zhang
Liang-Dan
LD
Sun
Hou-Feng
HF
Zheng
Jan-Wen
JW
Han
Cheng
C
Quan
Sheng-Quan
SQ
Zhang
Li-Qiong
LQ
Cai
Sheng-Xin
SX
Xu
Xian-Bo
XB
Zuo
Hui
H
Cheng
Sen
S
Yang
D000328:Adult; D044466:Asian People / Q000235:genetics*; D001402:B-Lymphocytes / Q000201:enzymology; D002681:China; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D019061:src-Family Kinases / Q000235:genetics*
C082599:protein-tyrosine kinase p55(blk); D019061:src-Family Kinases