CLINICAL CHARACTERIZATION OF POLYMORPHISMS IN THE SULFONYLUREA-RECEPTOR-1 GENE IN JAPANESE SUBJECTS WITH TYPE-2 DIABETES-MELLITUS

To assess the association of polymorphisms at the sulphonylurea recept or (SUR1) gene with the development of Type 2 diabetes mellitus, 456 s ubjects, 236 with Type 2 diabetes and 220 non-diabetic controls, were analysed for variants at exon 7, exon 22 and intron 24 of the SUR1 gen e by the polymerase chain reaction and restriction fragment length pol ymorphism. The T761T substitution in exon 22 of the SUR1 gene was not found in either diabetic patients or non-diabetic controls. Both the e xon 7 variant and the intron 24 variant were present in both groups at similar frequencies. No significant association was seen between eith er variant and obesity. Diabetic patients homozygous for the -3C allel e of intron 24 had a higher ratio of positive family history than pati ents homozygous for the -3T allele (p = 0.03). We conclude that these polymorphisms are not major determinants of diabetes and obesity in th e Japanese population. (C) 1998 John Wiley & Sons, Ltd.