Related Experiment Video
Updated: Aug 10, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
A CTLA-4 gene polymorphism at position -318 in the promoter region affects the expression of protein
1Immunological Research Unit and Department of Medicine, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Abstract:
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.
Related Concept Videos
RNA Splicing
Chromatin Position Affects Gene Expression
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the timing and level of...
Cell Specific Gene Expression
The Eukaryotic Promoter Region
General Transcription Factors
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

