Polymorphisms in the STAT-6 Gene and SLE.
- Author:
Young Hee RHO
1
;
Hyo Jin KIM
;
Seong Jae CHOI
;
Jong Dae JI
;
Young Ho LEE
;
Gwan Gyu SONG
Author Information
1. Division of Rheumatology, Korea University College of Medicine, Seoul, Korea. gsong@kumc.or.kr
- Publication Type:Original Article
- Keywords:
Lupus;
STAT-6;
Genetic polymorphism
- MeSH:
3' Untranslated Regions;
Antibodies;
Autoantibodies;
Genotype;
Humans;
Lupus Erythematosus, Systemic;
Lupus Nephritis;
Polymerase Chain Reaction;
Polymorphism, Genetic
- From:The Journal of the Korean Rheumatism Association
2005;12(1):26-29
- CountryRepublic of Korea
- Language:Korean
-
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.
