A CTLA-4 gene polymorphism at position -318 in the promoter region affects the expression of protein.
CTLA-4 is an important negative regulator of the immune system. The regulation of the CTLA-4 gene (Ctla-4) transcription is poorly understood. A single nucleotide polymorphism (SNP) at -318 in the Ctla-4 promoter region is associated with certain autoimmune diseases. Since the -318 SNP occurs in a potential regulatory region, it is conceivable that the C' T transition may affect the expression of Ctla-4. In the present study, we show that the -318T allele is associated with a higher promoter activity than the -318C allele (8.13 +/- 0.46 vs 6.87 +/- 0.49). The presence of the -318T allele may thus contribute to up regulation of the expression of CTLA-4, and consequently represent one mechanism to inhibit exaggerated immune activity.
Wang
X B
XB
Immunological Research Unit and Department of Medicine, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Zhao
X
X
Giscombe
R
R
Lefvert
A K
AK
D000069594:Abatacept; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D060908:CTLA-4 Antigen; D005786:Gene Expression Regulation; D006801:Humans; D018796:Immunoconjugates; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D014158:Transcription, Genetic
D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D018796:Immunoconjugates; D000069594:Abatacept