Linkage and association with type 1 diabetes on chromosome 1q42.

Journal Article (Journal Article)

Type 1 diabetes is a complex disorder with multiple genetic loci and environmental factors contributing to disease etiology. In the current study, a human type 1 diabetes candidate region on chromosome 1q42 was mapped at high marker density in a panel of 616 multiplex type 1 diabetic families. To facilitate the identification and evaluation of candidate genes, a physical map of the 7-cM region surrounding the maximum logarithm of odds (LOD) score (2.46, P = 0.0004) was constructed. Genes were identified in the 500-kb region surrounding the marker yielding the peak LOD score and evaluated for polymorphism by resequencing. Single-nucleotide polymorphisms (SNPs) identified in these genes as well as other anonymous markers were tested for allelic association with type 1 diabetes by both family-based and case-control methods. A haplotype formed by common alleles at three adjacent markers (D1S225, D1S2383, and D1S251) was preferentially transmitted to affected offspring in type 1 diabetic families (nominal P = 0.006). These findings extend the evidence supporting the existence of a type 1 diabetes susceptibility locus on chromosome 1q42 and identify a candidate region amenable to positional cloning efforts.

Full Text

Duke Authors

Cited Authors

  • Ewens, KG; Johnson, LN; Wapelhorst, B; O'Brien, K; Gutin, S; Morrison, VA; Street, C; Gregory, SG; Spielman, RS; Concannon, P

Published Date

  • November 2002

Published In

Volume / Issue

  • 51 / 11

Start / End Page

  • 3318 - 3325

PubMed ID

  • 12401725

International Standard Serial Number (ISSN)

  • 0012-1797

Digital Object Identifier (DOI)

  • 10.2337/diabetes.51.11.3318


  • eng

Conference Location

  • United States