RGD Reference Report - Soluble CTLA-4 receptor an immunological marker of Graves' disease and severity of ophthalmopathy is associated with CTLA-4 Jo31 and CT60 gene polymorphisms.

General

Soluble CTLA-4 receptor an immunological marker of Graves' disease and severity of ophthalmopathy is associated with CTLA-4 Jo31 and CT60 gene polymorphisms.
Authors:	Daroszewski, J Pawlak, E Karabon, L Frydecka, I Jonkisz, A Slowik, M Bolanowski, M
Citation:	Daroszewski J, etal., Eur J Endocrinol. 2009 Nov;161(5):787-93. doi: 10.1530/EJE-09-0600. Epub 2009 Sep 4.
RGD ID:	7421523
Pubmed:	PMID:19734241 (View Abstract at PubMed)
DOI:	DOI:10.1530/EJE-09-0600 (Journal Full-text)
OBJECTIVE: Graves' disease (GD) is an autoimmune disorder with genetic and environmental background. CTLA-4 is a candidate gene for thyroid autoimmunity. Increased serum levels of soluble CTLA-4 (sCTLA-4) were found in some autoimmune diseases. AIM: The aim of the study was to evaluate the relation between sCTLA-4 level and clinical manifestation of Graves' ophthalmopathy (GO), thyroid status, and CTLA-4 gene polymorphisms. DESIGN: Serum sCTLA-4 concentrations were determined in 93 GO patients and 93 healthy controls. In the GO group, CTLA-4 gene was genotyped in five polymorphic sites: g.319C>T, c.49A>G, CT60 by means of PRC-RFLP, Jo31, and g.*642AT(8_33) by means of minisequencing assay. RESULTS: Serum sCTLA-4 level was significantly higher in the GO group than in controls (median: 7.94 vs 0.00 ng/ml, P=0.000001). This level was higher in severe than in nonsevere GO (median: 10.3 vs 5.6 ng/ml, P=0.01). sCTLA-4 concentration was related neither to the activity of GO nor to thyroid function. Elevated sCTLA-4 levels were observed in carriers Jo31[G] allele (genotype GG+GT) as compared with subjects with an absence of the [G] allele (TT genotype; median: 9.18 vs 4.0 ng/ml, P=0.02). Also patients possessing CT60[G] allele (genotype GG+GA) had higher serum sCTLA-4 levels than subjects who lack the [G] allele (AA genotype; median: 8.73 vs 2.28 ng/ml, P=0.03). CONCLUSIONS: It was shown for the first time that increased serum concentration of sCTLA-4 correlate with the severity of GO. Genetic variation in the CTLA-4 gene region in GD patients at least partially determines the level of sCTLA-4.

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Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Graves ophthalmopathy	severity	IEP		7421523	protein:increased expression:serum:	RGD
Graves ophthalmopathy	severity	ISO	CTLA4 (Homo sapiens)	7421523; 7421523	protein:increased expression:serum:	RGD

Objects Annotated

Genes (Rattus norvegicus)

Ctla4 (cytotoxic T-lymphocyte-associated protein 4)

Genes (Mus musculus)

Ctla4 (cytotoxic T-lymphocyte-associated protein 4)

Genes (Homo sapiens)

CTLA4 (cytotoxic T-lymphocyte associated protein 4)

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Soluble CTLA-4 receptor an immunological marker of Graves' disease and severity of ophthalmopathy is associated with CTLA-4 Jo31 and CT60 gene polymorphisms.