title: No association of an interleukin 4 gene promoter polymorphism with Graves' disease in the United Kingdom.
abstract: Graves' disease (GD) is an autoimmune thyroid disease of unknown etiology, although predisposition to the development of this disease is thought to be caused by both genetic and environmental factors. Recently, an association between a promoter polymorphism of the interleukin 4 gene and GD has been reported. A C-T base change at position -590 showed modest protection against the development of GD in a United Kingdom data set of 135 patients with GD and 101 controls. This polymorphism was, therefore, investigated in a much larger case-control cohort of 384 patients with GD and 288 control subjects using PCR, followed by restriction fragment length polymorphism analysis. No protective effect of the T allele of this polymorphism was observed in our data set, and indeed no significant difference in either allelic or genotypic distribution was seen between the patient and control groups. Moreover, calculation of probabilities indicate that the original study lacked sufficient power to support the conclusions drawn. Our data support the hypothesis that the C-T promoter polymorphism of the interleukin 4 gene does not confer protection against the development of GD in Caucasians in the United Kingdom.
authors.affiliation: Division of Medical Science, University of Birmingham, Queen Elizabeth Hospital, Birmingham B15 2TT, United Kingdom.
authors.forename: J M
authors.initials: JM
authors.lastname: Heward
authors.forename: R
authors.initials: R
authors.lastname: Nithiyananthan
authors.forename: A
authors.initials: A
authors.lastname: Allahabadia
authors.forename: S
authors.initials: S
authors.lastname: Gibson
authors.forename: J A
authors.initials: JA
authors.lastname: Franklyn
authors.forename: S C
authors.initials: SC
authors.lastname: Gough
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18; D015331:Cohort Studies; D004247:DNA / Q000097:blood; D005787:Gene Frequency; D005838:Genotype; D006111:Graves Disease / Q000235:genetics* / Q000276:immunology; D006801:Humans; D015847:Interleukin-4 / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic; D012016:Reference Values; D006113:United Kingdom; D044465:White People / Q000235:genetics*
chemical_list: D015847:Interleukin-4; D004247:DNA