Nature Genetics
4, 305 - 310 (1993)
doi:10.1038/ng0793-305
Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTRAnneke M. Lucassen1, Cecile Julier2, Jean-Paul Beressi2, Christian Boitard2, Philippe Froguel2, Mark Lathrop2
& John I. Bell1
1Molecular Immunology group, Institute of Molecular Medicine, John Radcliffe Hospital Oxford 0X3 9DU, UK
2Centre d'Etude du Polymorphisme Humain, 27, rue Juliette Dodu, Paris 75010, France Correspondence should be addressed to J.I.B. Recent studies have demonstrated that a locus at 11p15,5 confers susceptibility to insulin dependent diabetes mellitus (IDDM). This locus has been shown to lie within a 19 kb region. We present a detailed sequence comparison of the predominant haplotypes found in this region in a population of French Caucasian IDDM patients and controls. Identification of polymorphisms both associated and unassociated with IDDM has allowed us to define further the region of association to 4.1 kb. Ten polymorphisms within this region are in strong linkage disequilibrium with each other and extend across the insulin gene locus and the variable 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.
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