NFKB1 -94 insertion/deletion ATTG polymorphism contributes to risk of systemic lupus erythematosus.
Growing evidence has shown that nuclear factor-κB (NF-κB) plays a key role in the initiation and progression of systemic lupus erythematosus (SLE) pathogenesis. A common polymorphism (-94 insertion/deletion ATTG, rs28362491) in the promoter region of NFKB1 gene was identified as functional. The -94del ATTG allele exhibited loss of binding to nuclear proteins and resulted in reduced promoter activity. We investigated the association between NFKB1 -94 insertion/deletion ATTG polymorphism and risk of SLE. A total of 224 SLE patients and 256 control subjects were genotyped using a polymerase chain reaction-polyacrylamide gel electrophoresis strategy and DNA sequencing. We found that the ATTG(1)/ATTG(2) genotype was associated with a significantly decreased risk of SLE (odds ratio=0.52, 95% confidence interval: 0.32-0.87, p=0.012). This finding indicates that the -94 insertion/deletion ATTG polymorphism may play pivotal roles in the development of SLE in the Chinese population. Further studies with larger sample size are warranted to confirm this finding, especially in different populations.
Department of Anesthesiology, China-Japan Union Hospital of Jilin University, Changchun, Jilin, People's Republic of China.
Ming
M
Gao
Chun-Hui
CH
Wang
Xiutian
X
Sima
Xue-Mei
XM
Han
D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D054643:INDEL Mutation / Q000235:genetics; D008180:Lupus Erythematosus, Systemic / Q000453:epidemiology / Q000235:genetics*; D052002:NF-kappa B p50 Subunit / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012307:Risk Factors; D017422:Sequence Analysis, DNA
D052002:NF-kappa B p50 Subunit; C489548:NFKB1 protein, human