CTLA-4 and its role in autoimmune thyroid disease

Chistiakov, Dimitry A.; Turakulov, RI

doi:10.1677/jme.0.0310021

Cited by 130 publications

(96 citation statements)

References 104 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In the available literature, studies on the polymorphism of CTLA4 exon1 A49G have shown conflicting results. Indeed, some studies disagree with our findings and suggest significant associations with GD and HT for both 49A/G and CT60G/A (Chistiakov and Turakulov 2003;Kavvoura et al 2007;Furugaki et al 2004) while others suggest that CTLA4 leads to the production of thyroid autoantibodies but it does not contribute to AITD (Tomer et al 2001).…”

Section: Discussioncontrasting

confidence: 81%

Genetics of autoimmune thyroid disease in the Lebanese population

et al. 2012

View full text Add to dashboard Cite

This study aims to investigate the association of human leukocyte antigen (HLA) class II genes and cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) with autoimmune thyroid diseases in the Lebanese population. A total of 128 patients with autoimmune thyroid disease (55 with Graves' disease (GD) and 73 with Hashimoto's thyroiditis (HT)) were typed for HLA DQA1 (0301 and 0501) and DQB1 (0201, 0302, and 0303) and for 49A/G CTLA-4 using PCR-based sequence-specific priming methods. A total of 186 matched controls were typed for the same alleles and compared to the diseased population. Results showed no significant differences in HLA DQB1*0201 or DQB1*0301 allelic frequencies or CTLA-4 polymorphisms between patients and controls. For GD, there was a weak association with HLA DQB1*0302 [34.6% (19 of 55)

show abstract

Section: Discussioncontrasting

confidence: 81%

Genetics of autoimmune thyroid disease in the Lebanese population

et al. 2012

View full text Add to dashboard Cite

show abstract

“…Those which are linked to reduced protein expression, such as À318C4T in the promoter and 49A4G in exon 1 of CTLA4, 5,6 have been associated with increased frequency of autoimmune diseases like Graves' disease, autoimmune hypothyroidism, type 1 diabetes and multiple sclerosis. [7][8][9] In the current study, we aimed to evaluate whether the low expression CTLA4 polymorphisms À318C4T and 49A4G were associated with the risk of developing AA and whether they were linked to a worse response to IS therapy.…”

Section: Discussionmentioning

confidence: 99%

The polymorphisms −318C>T in the promoter and 49A>G in exon 1 of CTLA4 and the risk of aplastic anemia in a Caucasian population

Svahn

Capasso

Lanciotti

et al. 2005

Bone Marrow Transplant

View full text Add to dashboard Cite

Summary:Aplastic anemia (AA) is a rare disease with a major autoimmune pathogenetic component. CTLA4 is a Tlymphocyte surface molecule involved in the maintenance of immune tolerance. Some polymorphisms associated with a reduced expression of CTLA4, and thus presumably with increased tendency to autoimmunity, have been associated with various autoimmune diseases. In this study, we evaluated the distribution of the low expression polymorphisms À318C4T and 49A4G of CTLA4 in a population of 67 patients with acquired AA and in 100 normal controls. There was no difference in the distribution of the tested polymorphism between patients and controls and, within the patient group, between those who responded to immunosuppression vs those who did not respond. This study indicates that the polymorphisms À318C4T and 49A4G of CTLA4 do not affect the risk of developing AA and do not influence the response to immunosuppression. Bone Marrow Transplantation (2005) 35, S89-S92.

show abstract

“…19 Apart from CD, the 2q33 locus has been studied as a candidate susceptibility locus for autoimmune diseases such as type I diabetes 20 and autoimmune thyroid disease. 21 In addition, a large deletion affecting exons 2 and 3 of the ICOS gene has been described in four CVID patients from two families. 22 This 1815 bp deletion results in an mRNA frameshift with a premature stop codon, abolishing the expression of ICOS at the cell surface.…”

Section: Introductionmentioning

confidence: 99%

The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency

et al. 2008

View full text Add to dashboard Cite

IgA deficiency (IgAD) and common variable immunodeficiency (CVID) often co-occur in families, associating with chronic inflammatory diseases such as celiac disease (CD). ICOS (inducible co-stimulator) and CTLA4 (cytotoxic T-lymphocyteassociated protein-4) may be important in both disorders, as ICOS is necessary for Ig class-switching and CTLA4 negatively regulates T-cell activation. Linkage and association of CD with CTLA4-ICOS is well documented, we thus aimed to further pinpoint CD susceptibility by haplotype-tagging analysis. We genotyped 663 CD families from Finland and Hungary, 575 additional CD patients from Finland, Hungary and Italy; 275 Swedish and Finnish IgAD individuals and 87 CVID individuals for 14-18 genetic markers in CTLA4-ICOS. Association was found between CTLA4-ICOS and both IgAD (P ¼ 0.0015) and CVID (P ¼ 0.0064). We confirmed linkage of CTLA4-ICOS with CD (LOD 2.38, P ¼ 0.0005) and found association of CTLA4-ICOS with CD (P ¼ 0.0009). Meta-analysis of the IgAD, CVID and CD materials revealed intergenic association (P ¼ 0.0005). Disease-associated markers were associated with lower ICOS and higher CTLA4 expression, indicating that the risk haplotypes contain functional variants. In summary, we identified a novel shared risk locus for IgAD, CVID and CD, the first report of association between CTLA4-ICOS and IgAD. Association between CD and CTLA4-ICOS was also confirmed in a large European data set.

show abstract

CTLA-4 and its role in autoimmune thyroid disease

Cited by 130 publications

References 104 publications

Genetics of autoimmune thyroid disease in the Lebanese population

Genetics of autoimmune thyroid disease in the Lebanese population

The polymorphisms −318C>T in the promoter and 49A>G in exon 1 of CTLA4 and the risk of aplastic anemia in a Caucasian population

The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency

Contact Info

Product

Resources

About