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Type 1 diabetes has a substantial genetic component, with consistent evidence for a susceptibility locus in the HLA-DR/DQ region (chromosome 6p) and the insulin gene region (chromosome 11p). Genome scans have identified >18 other genomic regions that may harbor putative type 1 diabetes genes. However, evidence for most regions varies in different data sets. Given the genetic heterogeneity of type 1 diabetes, studies in homogeneous genetically isolated populations may be more successful in mapping susceptibility loci than in complex outbred populations. We describe a genome-wide search in a recently Dutch isolated population. We identified 43 patients that could be traced back to a common ancestor within 15 generations and performed a genome-wide scan using a combined linkage- and association-based approach. In addition to the HLA locus, evidence for type 1 diabetes loci was observed on chromosome 8q24 (marker D8S1128) and on chromosome 17q24 (marker D17S2059). Both the 8q and 17q localization are supported by allele-sharing at adjacent markers in affected individuals. Statistical evidence for a conserved ancestral haplotype was found for chromosome 8q24.

Original publication

DOI

10.2337/diabetes.51.3.856

Type

Journal article

Journal

Diabetes

Publication Date

03/2002

Volume

51

Pages

856 - 859

Keywords

Alleles, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 17, Chromosomes, Human, Pair 6, Chromosomes, Human, Pair 8, Diabetes Mellitus, Type 1, Genetic Markers, Genetic Predisposition to Disease, Genotype, HLA-DQ Antigens, HLA-DR Antigens, Humans, Linkage Disequilibrium, Netherlands, Pedigree