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Lupus
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Polymorphisms of the CTLA-4 exon 1 and promoter gene in systemic lupus erythematosus

Y H Lee

Y R Kim

J D Ji

Division of Rheumatology, Department of Internal Medicine, College of Medicine, Korea University, Seoul, Korea

J Sohn

Department of Biochemistry, College of Medicine, Korea University, Seoul, Korea

G G Song

Division of Rheumatology, Department of Internal Medicine, College of Medicine, Korea University, Seoul, Korea; Division of Rheumatology, Department of Internal Medicine, Anam Hospital, College of Medicine, Korea University, 126-1 Ka, Anam-Dong, Seongbuk-Ku, Seoul, 136-705, Koreagsong{at}ns.kumc.co.kr

The objective of this study was to determine whether the polymorphisms of the CTLA-4 exon 1 (/49) and promoter (7318) are associated with susceptibility to systemic lupus erythematosus (SLE) and its clinical features. Polymerase chain reaction of genomic DNA-restriction fragment length polymorphism was used to determine genotypes of the CTLA-4 exon 1 (/49) and promoter (7318) in 80 SLE patients and 86 healthy control subjects. The genotype distribution of the CTLA-4 exon 1 (/49) differed between SLE patients and controls (w2 = 6.74, 2 degrees of freedom (d.f.), P = 0.03). The CTLA-4 AG genotype occurred more frequently in patients with SLE (46.3% vs 33.7% controls). On the other hand, the CTLA-4 AA genotype as well as the CTLA-4 GG genotype was less frequent among SLE patients than among control subjects (1.3% vs 9.3% and 52.5% vs 57.0%, respectively). The genotype distribution of the CTLA-4 promoter (-318) different between SLE patients and control subjects (CT, TT, CC; genotype 27.5%, 0%, 72.5% vs 16.3%, 4.7%, 79.1% controls respectively, w2 = 6.36 2 d.f., P = 0.04). However, Fisher's exact or w2 P-values for each genotypes of the CTLA-4 exon l (+49) and promoter (-318) between SLE and control group < 0.05. Clinically, in the lupus patients there was no significant difference according to the CTLA-4 polymorphism.

In conclusion, no correlation was found between CTLA-4 exon 1 (+49) and promoter (-318) polymorphisms and SLE in our study.

Key Words: systematic lupus erythematosus • CTLA-4 • polymorphisms

Lupus, Vol. 10, No. 9, 601-605 (2001)
DOI: 10.1191/096120301682430177


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C G Parks, L L Hudson, G S Cooper, M A Dooley, E L Treadwell, E W St Clair, G S Gilkeson, and J P Pandey
CTLA-4 gene polymorphisms and systemic lupus erythematosus in a population-based study of whites and African-Americans in the southeastern United States
Lupus, October 1, 2004; 13(10): 784 - 791.
[Abstract] [PDF]



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