Polymorphisms in the STAT-6 Gene and SLE

Rho, Young Hee; Kim, Hyo Jin; Choi, Seong Jae; Ji, Jong Dae; Lee, Young Ho; Song, Gwan Gyu

Abstract

OBJECTIVES
To investigate whether the new polymorphism at position 2964 (G/A) in the 3' untranslated region of the STAT-6 gene is associated with susceptibility to systemic lupus erythematosus (SLE) and its clinical features.
METHODS
A polymerase chain reaction of genomic DNA-restriction fragment length polymorphism was used to determine genotypes of the STAT-6 in 90 SLE patients and 148 healthy controls. Clinical and serological manifestations were analyzed in each patient and correlated with the genotypes. RESUTLS: The genotype distribution of the STAT-6 differed significantly between SLE patients and control subjects (AA, AG, GG genotypes 7, 74, 9 vs. 1, 119, 28 controls respectively, p= 0.003). The frequency of AA genotype (7.8%) is significantly increased in SLE patients compared with controls (0.7%)(OR=12.398, 95% CI 1.50~102.5, Fisher's exact test, p=0.005). Clinically in the lupus patients according to the STAT-6 genotypes, there was no significant difference in age at onset, anti-ds-DNA titer, C3, C4 level, SLEDAI, SLICC/ACR Damage Index, or autoantibodies such as RF, anti-Ro, La, RNP, Sm antibodies, except for renal involvement. The frequency of lupus nephritis was significantly higher in the AA genotype in comparison with GG genotype (Fisher's exact test, p=0.019).
CONCLUSION
Our data show that the STAT-6 AA genotype may contribute to susceptibility to SLE and may be associated with development of lupus nephritis.