Genetic analysis and functional evaluation of the C/T(−318) and A/G(−1661) polymorphisms of the CTLA-4 gene in patients affected with Graves' disease

Chistiakov, Dimitry A.; Savost’anov, Kirill V.; Туракулов, Р. И.; Efremov, I. A.; Demurov, L. M.

doi:10.1016/j.clim.2005.09.017

Cited by 70 publications

(66 citation statements)

References 45 publications

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“…The CTLA4 rs231775 SNP causes 17 Threonine (Thr) > 17 Alanine (Ala) substitution in the leading peptide of the CTLA4 receptor (42), which reduces the cell surface expression of flCTLA4. It has been reported that the rs231775G alleles have lower mRNA efficiency and decreased CTLA4 production than the rs231775A allele (43). Therefore, individuals with the rs231775GG genotype have higher T-cell proliferation than those with the rs231775AA genotype under the condition of suboptimal stimulation (44).…”

Section: Discussionmentioning

confidence: 99%

Association of functional genetic variants of CTLA4 with reduced serum CTLA4 protein levels and increased risk of idiopathic recurrent miscarriages

Misra

Mishra

Phadke

et al. 2016

Fertility and Sterility

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Section: Discussionmentioning

confidence: 99%

Association of functional genetic variants of CTLA4 with reduced serum CTLA4 protein levels and increased risk of idiopathic recurrent miscarriages

Misra

Mishra

Phadke

et al. 2016

Fertility and Sterility

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“…Previous studies have found that the G allele has lower mRNA efficiency and decreased CTLA-4 protein production than the A allele (Chistiakov et al, 2006). Since CTLA-4 downregulates T-cell production individuals with GG genotype (less CTLA-4 production) have higher T-cell proliferation than those with the AA genotype (Maurer et al, 2002).…”

Section: 2035 Lack Of Any Association Of the Ctla-4 +49 G/a Polymorpmentioning

confidence: 99%

Lack of any Association of the CTLA-4 +49 G/A Polymorphism with Breast Cancer Risk in a North Indian Population

Minhas¹,

Bhalla²,

Shokeen³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is an important protein involved in the regulation of the immune system. The +49 G/A polymorphism is the only genetic variation in the CTLA-4 gene that causes an amino acid change in the resulting protein. It is therefore the most extensively studied polymorphism among all CTLA-4 genetic variants and contributions to increasing the likelihood of developing cancer are well known in various populations, especially Asians. However, there have hiterto been no data with respect to the effect of this polymorphism on breast cancer susceptibility in our North Indian population. We therefore assayed genomic DNA of 250 breast cancer subjects and an equal number of age-, sex-and ethnicity-matched healthy controls for the CTLA-4 +49 G/A polymorphism but no significant differences in either the gene or allele frequency were found. Thus the CTLA-4 +49 G/A polymorphism may be associated with breast cancer in other Asians, but it appears to have no such effect in North Indians. The study also highlights the importance of conducting genetic association studies in different ethnic populations.

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“…Chistiakov et al 37 also found no significant impact of the CTLA4 À1661A/G polymorphism on luciferase activity, although the polymorphism was associated with GD. Wang et al 38 found no differences in CTLA4 expression levels between different alleles and genotypes of the CTLA4 À1661A/G Figure 5 Representative results of immunostaining of flCTLA4 protein (arrow) in biopsies of inflamed colonic tissue from UC patients for individuals carrying long alleles (a) and short alleles (b) of the (AT)n repeat polymorphism.…”

Section: Discussionmentioning

confidence: 94%

CTLA4 −1661A/G and 3′UTR long repeat polymorphisms are associated with ulcerative colitis and influence CTLA4 mRNA and protein expression

Chen

Brant

et al. 2010

Genes Immun

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Reduced cytotoxic T-lymphocyte antigen 4 (CTLA4) expression has been proposed as a risk for autoimmunity. CTLA4 polymorphisms have been associated with several autoimmune diseases, including ulcerative colitis (UC). In this study, we performed genotyping for CTLA4 À1661A/G, À1722T/C and 3 0 untranslated region (AT)n repeat polymorphisms in 300 Chinese UC patients and in 700 healthy controls, and evaluated the effects of polymorphisms on full-length (flCTLA4) and soluble CTLA4 (sCTLA4) expression in UC patients. The frequency of the À1661G allele was higher in UC patients than in healthy controls (16.5 vs 11.4%, P ¼ 0.003, odds ratio (OR) ¼ 1.53, 95% confidence interval (95% CI): 1.17-2.01). The prevalence of (AT)n repeats of the CTLA4 gene carrying long alleles (X116 bp) was more common in UC patients than in healthy controls (22.0 vs 6.3%, Po0.001, OR ¼ 4.21, 95% CI: 2.79-6.33), and was associated with extensive colitis (P ¼ 0.008). Among UC patients, long-allele carriers expressed lower levels of flCTLA4 and sCTLA4 mRNA and sCTLA4 protein than did short-allele carriers (Po0.001, Po0.001, Po0.001, respectively). CTLA4 gene À1661A/G and long 3 0 untranslated region (AT)n repeat polymorphisms are associated with UC in Central China. This is likely from decreased expressions of sCTLA4 mRNA and sCTLA4 protein. Our study suggests that CTLA4 has an important role in susceptibility for UC in Central China.

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Genetic analysis and functional evaluation of the C/T(−318) and A/G(−1661) polymorphisms of the CTLA-4 gene in patients affected with Graves' disease

Cited by 70 publications

References 45 publications

Association of functional genetic variants of CTLA4 with reduced serum CTLA4 protein levels and increased risk of idiopathic recurrent miscarriages

Association of functional genetic variants of CTLA4 with reduced serum CTLA4 protein levels and increased risk of idiopathic recurrent miscarriages

Lack of any Association of the CTLA-4 +49 G/A Polymorphism with Breast Cancer Risk in a North Indian Population

CTLA4 −1661A/G and 3′UTR long repeat polymorphisms are associated with ulcerative colitis and influence CTLA4 mRNA and protein expression

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