Diabetic hypertriglyceridaemia and related 5' flanking polymorphism of the human insulin gene.

A polymorphic DNA sequence was studied on the 5' flanking region of the human insulin gene in relation to diabetic lipaemia. The genotype frequencies in a control population (n = 52) were homozygous L 6%, heterozygous 54%, and homozygous S 40%. Corresponding genotype frequencies in a hypertriglyceridaemic group (n = 74) were 18%, 66%, and 16% (p less than 0.01; chi 2 test). When the hypertriglyceridaemic patients were divided on the basis of glucose tolerance the corresponding genotype frequencies in the diabetic subgroup (n = 23) were 39%, 52%, and 9% compared with 0%, 74%, and 26% in the non-diabetics (n = 34) (p less than 0.001; chi 2 test). These findings suggest that the homozygous L genotype may confer susceptibility to diabetic hypertriglyceridaemia.