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Confirmation of the DRB1-DQB1 loci as the major component of IDDM1 in the isolated founder population of Sardinia

Zavattari, Patrizia and Lampis, Rosanna and Mulargia, Annapaola and Loddo, Miriam and Angius, Efisio and Todd, John A. and Cucca, Francesco (2000) Confirmation of the DRB1-DQB1 loci as the major component of IDDM1 in the isolated founder population of Sardinia. Human Molecular Genetics, Vol. 9 (20), p. 2967-2972. eISSN 1460-2083. Article.

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Abstract

There is considerable uncertainty and debate concerning the application of linkage disequilibrium (LD) mapping in common multifactorial diseases, including the choice of population and the density of the marker map. Previously, it has been shown that, in the large cosmopolitan population of the UK, the established type 1 diabetes IDDM1 locus in the HLA region could be mapped with high resolution by LD. The LD curve peaked at marker D6S2444, 85 kb from the HLA class II gene DQB1, which is known to be a major determinant of IDDM1. However, given the many unknown parameters underlying LD, a validation of the approach in a genetically distinct population is necessary. In the present report we have achieved this by the LD mapping of IDDM1 in the isolated founder population of Sardinia. Using a dense map of microsatellite markers, we determined the peak of LD to be located at marker D6S2447, which is only 6.5 kb from DQB1. Next, we typed a large number of SNPs defining allelic variation at functional candidate genes within the critical region. The association curve, with both classes of marker, peaked at the loci DRB1-DQB1. These results, while representing conclusive evidence that the class II loci DRB1-DQB1 dominate the association of the HLA region to type 1 diabetes, provide empirical support for LD mapping.

Item Type:Article
ID Code:4230
Status:Published
Refereed:Yes
Uncontrolled Keywords:Dependent diabetes-mellitus, transmission/disequilibrium test, gametic disequilibrium, linkage disequilibrium, gene, complex, disease, region, microsatellites, susceptibility, Sardinia
Subjects:Area 06 - Scienze mediche > MED/03 Genetica medica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze biomediche
Publisher:Oxford University Press
eISSN:1460-2083
Deposited On:21 Jul 2010 10:50

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