Jm. Heward et al., No association of an interleukin 4 gene promoter polymorphism with Graves'disease in the United Kingdom, J CLIN END, 86(8), 2001, pp. 3861-3863
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 again
st 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 mu
ch larger case-control cohort of 384 patients with GD and 288 control subje
cts using PCR, followed by restriction fragment length polymorphism analysi
s. No protective effect of the T allele of this polymorphism was observed i
n our data set, and indeed no significant difference in either allelic or g
enotypic distribution was seen between the patient and control groups. More
over, calculation of probabilities indicate that the original study lacked
sufficient power to support the conclusions drawn. Our data support the hyp
othesis that the C-T promoter polymorphism of the interleukin 4 gene does n
ot confer protection against the development of GD in Caucasians in the Uni
ted Kingdom.