Am. Lucassen et al., SUSCEPTIBILITY TO INSULIN-DEPENDENT DIABETES-MELLITUS MAPS TO A 4.1 KB SEGMENT OF DNA SPANNING THE INSULIN GENE AND ASSOCIATED VNTR, Nature genetics, 4(3), 1993, pp. 305-310
Recent studies have demonstrated that a locus at 11p15.5 confers susce
ptibility to insulin dependent diabetes mellitus (IDDM). This locus ha
s been shown to lie within a 19 kb region. We present a detailed seque
nce comparison of the predominant haplotypes found in this region in a
population of French Caucasian IDDM patients and controls. Identifica
tion of polymorphisms both associated and unassociated with IDDM has a
llowed us to define further the region of association to 4.1 kb. Ten p
olymorphisms within this region are in strong linkage disequilibrium w
ith each other and extend across the insulin gene locus and the variab
le number tandem repeat (VNTR) situated immediately 5' to the insulin
gene. These represent a set of candidate disease polymorphisms one or
more of which may account for the susceptibility to IDDM.