The beta cell glucokinase promoter variant is an unlikely risk factor for diabetes mellitus

1432-0428

Keywords IDDM ; NIDDM ; glucokinase gene ; polymerase chain reaction ; single strand conformational polymorphism ; islet cell antibodies ; GAD65 antibodies.

Springer Online Journal Archives 1860-2000

Medicine

Summary Glucokinase plays an important role in the regulation of insulin secretion and is therefore an attractive candidate gene for both insulin dependent (IDDM) and non-insulin-dependent (NIDDM) diabetes mellitus. A single G-A nucleotide polymorphism at the –30 position of the beta-cell specific promoter region of the glucokinase gene was previously associated with reduced beta-cell function. In the present study we analysed 268 consecutive newly diagnosed Swedish patients classified with either IDDM (n = 205), NIDDM (n = 31) or unclassifiable (n = 32) diabetes between the ages of 15 and 35 years along with a group of 158 age- and sex-matched control subjects. The beta-cell promoter region was amplified by the polymerase chain reaction and the G-A variant identified by single strand conformational polymorphism. There was no significant difference in allele frequencies of G and A between any of the subject groups and likewise, no significant difference in the frequencies of the G/G, G/A, or A/A genotypes. Eight subjects were homozygous for the less common A allele, five had IDDM and three were control subjects. Our results suggest that the –30 beta-cell glucokinase promoter variant is not associated with IDDM. [Diabetologia (1997) 40: 959–962)

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