No evidence for allelic association of a human CTLA-4 promoter polymorphism with autoimmune thyroid disease in either population-based case-control or family-based studies

Research output: Contribution to journalArticlepeer-review


  • J M Heward
  • J Carr-Smith
  • J Daykin
  • C S Cockram
  • A H Barnett
  • S C Gough


The cytotoxic T lymphocyte associated-4 (CTLA-4) gene is a candidate for T-cell mediated autoimmune disease and polymorphism has been reported to be associated with both type 1 diabetes and autoimmune thyroid disease. A previously unreported polymorphism of the promoter region of the human CTLA-4 gene has recently been described in a sample of a normal control population. We investigated the distribution of this polymorphism, situated at position -318 to the ATG start codon and resulting in a C-T change leading to an Mse I restriction site, in both population based case control studies and family studies in patients with Graves' disease (Caucasian and Hong Kong Chinese), autoimmune hypothyroidism and systemic lupus erythematosus (SLE).


Original languageEnglish
Pages (from-to)331-4
Number of pages4
JournalClinical Endocrinology
Issue number3
Publication statusPublished - Sep 1998


  • Alleles, Antigens, CD, Antigens, Differentiation, Autoimmune Diseases, CTLA-4 Antigen, Case-Control Studies, China, Genotype, Graves Disease, Hong Kong, Humans, Hypothyroidism, Immunoconjugates, Lupus Erythematosus, Systemic, Polymorphism, Genetic, Promoter Regions, Genetic, Thyroid Diseases