Biochemical and Biophysical Research Communications
Regular ArticleAn Mse I RFLP in the Human CTLA4 Promotor
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A negative association of CTLA-4 genetic variant (rs11571317) with breast cancer risk in Moroccan population
2022, Gene ReportsCitation Excerpt :The −658 C/T SNP is located in the promoter region of CTLA-4 gene. This region is the binding site of the transcription factors where the transcription of the genes begins and is implicated also in regulation of gene expression level (Deichmann et al., 1996). SNPs in this region may impact crucial sites for transcription factor binding; thus, they may be associated with decreased CTLA-4 gene transcription. (
CTLA-4 (CD152): A versatile receptor for immune-based therapy
2019, Seminars in ImmunologyFunctions of CD28, CTLA-4 and PD-1
2018, Bulletin du CancerCoinhibitory Pathways in the B7-CD28 Ligand-Receptor Family
2016, ImmunityCitation Excerpt :Similarly, severe immune dysregulation occurs in people heterozygous for mutations that result in reduced CTLA-4 mRNA and protein levels (Kuehn et al., 2014). Several SNPs have been identified in the regulatory or promoter and signal sequence regions of human CTLA-4 (Deichmann et al., 1996; Donner et al., 1997; Kristiansen et al., 2000; Nisticò et al., 1996; Wang et al., 2002b). The polymorphism at A49G is the only polymorphism that changes the primary amino acid sequence of CTLA-4.
Influence of cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms in periodontitis
2012, Archives of Oral BiologyCitation Excerpt :Several important SNPs have been reported in the entire region of the CTLA-4 gene, and among them, −1722 T/C, −1661 A/G, −318 C/T (in the promoter region) and exon 1 (+49 G/A), are much attention because they have been identified as functional polymorphism of CTLLA-4.14 Several single nucleotide polymorphisms (SNPs) have been identified in the promoter region of the human CTLA-4 gene (−1722 T/C, −1661 A/G, −318 C/T) and exon 1 (+49 G/A), some of which are related to differences in CTLA-4 expression or have been associated with susceptibility to autoimmune14,15 and infectious diseases.16,17 The +49 A to G polymorphism, resulting in a threonine-to-alanine conversion at codon 17, is a functional polymorphism of CTLA-4.
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