NFKB1 -94 insertion/deletion ATTG polymorphism contributes to risk of systemic lupus erythematosus

• Published in: DNA and cell biology Vol. 31; no. 4; p. 611
• Main Authors: Gao, Ming, Wang, Chun-Hui, Sima, Xiutian, Han, Xue-Mei
• Format: Journal Article
• Language: English
• Published: United States 01.04.2012
• Subjects: Asian Continental Ancestry Group - genetics; Case-Control Studies; China - epidemiology; Genetic Association Studies; Genetic Predisposition to Disease - genetics; Genotype; Humans; INDEL Mutation - genetics; Lupus Erythematosus, Systemic - epidemiology; Lupus Erythematosus, Systemic - genetics; NF-kappa B p50 Subunit - genetics; Polymerase Chain Reaction; Polymorphism, Genetic - genetics; Promoter Regions, Genetic - genetics; Risk Factors; Sequence Analysis, DNA; China
• ISSN: 1557-7430
• DOI: 10.1089/dna.2011.1389

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.