Endocrine Abstracts (2006) 11 P817

Association of CTLA-4 exon 1 polymorphism with Graves’ disease in Spanish patients

P Álvarez-Vázquez, D Valverde, L Constela, L Pérez Méndez & RV García-Mayor

University Hospital of Vigo, Vigo, Spain.

Introduction: Graves disease (GD) is inherited as a complex multigenic disorder. One of the most promising genes for susceptibility to GD is cytotoxic T lymphocyte antigen-4 (CTLA4), a negative regulator of T-cell activation.

Objective: The aim of this study was to determine whether A/G polymorphism in exon 1 of the CTLA-4 gen was associated with GD in spanish patients.

Patients and methods: Fifty one adult GD patients and 25 unrelated controls were analyzed. GD was defined as hyperthyroidism together with following criteria: diffuse goiter, thyroglobulin and/or thyroid peroxidase abs and/or ophthalmopathy. Polymorphism were analyzed using a restriction enzyme digestion with BbvI of polymerasa chain reaction (PCR) amplified genomic.

Results: Forty three women (84%) in the total of 51 patients studied. The medium age was 41,25 years (18–75). The distribution of genotype frequencies and the frequencies of the A and G alleles differed between GD subjects and controls (see table). In the control group we have not detected homozygous for the G allele.

A49G MutationGravesControlsP
Genotype Distribution
A/A21 (41)24 (58)ns
A/G18 (35)21 (42)ns
G/G12 (24)00.005
Alleles Frequency
A30 (59)41 (82)0.01
G21 (41)11 (22)0.04

Conclusions: Our data show that G-carrying genotypes of polymorphism CTLA4 A/G are associated with increase in risk of GD in our region. The G allele and the GG genotype were increased among Spanish patients. We not found association between AG genotype and GD like other previous studies in Caucasian patients. CTLA-4 polymorphism varies according to ethnic group and environmental variables and it is important its identification than in future can influence the selection of treatment of GD.

Article tools

My recent searches

No recent searches.