RT Journal Article
SR Electronic
T1 Interferon-gamma gene polymorphisms associated with susceptibility to systemic lupus erythematosus
JF Annals of the Rheumatic Diseases
JO Ann Rheum Dis
FD BMJ Publishing Group Ltd and European League Against Rheumatism
SP 1247
OP 1250
DO 10.1136/ard.2009.117572
VO 69
IS 6
A1 Kwangwoo Kim
A1 Soo-Kyung Cho
A1 Andrea Sestak
A1 Bahram Namjou
A1 Changwon Kang
A1 Sang-Cheol Bae
YR 2010
UL http://ard.bmj.com/content/69/6/1247.abstract
AB Objective Interferon-gamma (IFNG) is a type II interferon playing diverse roles in innate and adaptive immune systems. Elevated expression of IFNG has been associated with systemic lupus erythematosus (SLE). This study examined the association of IFNG polymorphisms with SLE susceptibility. Methods Five tag single-nucleotide polymorphisms (SNP) and eight variations in all known regulatory sequences affecting IFNG expression within and around IFNG were genotyped in 1759 unrelated Korean subjects. SLE susceptibility association was assessed by comparing 742 SLE patients and 1017 unaffected controls using multivariate logistic regression analysis with adjustment for age and gender. Results SLE susceptibility association was significant with rs2069705 in the promoter (adjusted OR 2.27, p=0.0024) and marginal with rs3181032 in the promoter (p=0.037), rs2430561 in intron 1 (p=0.022) and rs2069718 in intron 3 (p=0.026) in a recessive genetic model. Five other SNP showed no association and four other variations were not polymorphic. Conclusion Several SNP in IFNG are associated with SLE susceptibility, and the risk allele of an associated SNP (rs2430561) located in an NF-κB binding site has elevated IFNG expression versus the non-risk allele, supporting that elevated IFNG expression is associated with increased SLE susceptibility.