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Search for haplotype interactions that influence susceptibility to type 1 diabetes, through use of unphased genotype data

Zhang, Jian, Liang, Faming, Dassen, Willem R. M., Doevendans, Pieter A., de Gunst, Mathisca (2003) Search for haplotype interactions that influence susceptibility to type 1 diabetes, through use of unphased genotype data. American Journal of Human Genetics, 73 (6). pp. 1385-1401. ISSN 0002-9297. (doi:DOI not available) (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided) (KAR id:596)

The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided.
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Abstract

Type 1 diabetes is a T-cell-mediated chronic disease characterized by the autoimmune destruction of pancreatic insulin-producing beta cells and complete insulin deficiency. It is the result of a complex interrelation of genetic and environmental factors, most of which have yet to be identified. Simultaneous identification of these genetic factors, through use of unphased genotype data, has received increasing attention in the past few years. Several approaches have been described, such as the modified transmission/disequilibrium test procedure, the conditional extended transmission/disequilibrium test, and the stepwise logistic-regression procedure. These approaches are limited either by being restricted to family data or by ignoring so-called "haplotype interactions" between alleles. To overcome this limit, the present study provides a general method to identify, on the basis of unphased genotype data, the haplotype blocks that interact to define the risk for a complex disease. The principle underpinning the proposal is minimal entropy. The performance of our procedure is illustrated for both simulated and real data. In particular, for a set of Dutch type 1 diabetes data, our procedure suggests some novel evidence of the interactions between and within haplotype blocks that are across chromosomes 1, 2, 3, 4, 5, 6, 7, 8, 11, 12, 15, 16, 17, 19, and 21. The results demonstrate that, by considering interactions between potential disease haplotype blocks, we may succeed in identifying disease-predisposing genetic variants that might otherwise have remained undetected.

Item Type: Article
DOI/Identification number: DOI not available
Uncontrolled keywords: DISEASE; LOCI; LINKAGE; COMPLEX; POLYMORPHISMS; EPISTASIS; PROMOTER; GENOME; IDDM1; HLA
Subjects: H Social Sciences > HA Statistics
Divisions: Divisions > Division of Computing, Engineering and Mathematical Sciences > School of Mathematics, Statistics and Actuarial Science
Depositing User: Judith Broom
Date Deposited: 19 Dec 2007 18:22 UTC
Last Modified: 16 Nov 2021 09:39 UTC
Resource URI: https://kar.kent.ac.uk/id/eprint/596 (The current URI for this page, for reference purposes)

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