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Cost-effective analysis of candidate genes using htSNPs: a staged approach. Export

Genes Immun, Vol. 5, No. 4. (Jun 2004), pp. 301-5.

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adolescent and carrier case-control child combinedbib cytoplasmic diabetes disease disequilibrium dna-binding epistasis female genetic genetics genotype glycoproteins govt haplotypes humans interleukin-13 interleukin-4 linkage male markers mellitus membrane models non-us nuclear nucleotide polymorphism population predisposition preschool proteins receptors research single statistical studies support to trans-activators type

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We have previously shown that the selection of haplotype tag single nucleotide polymorphisms (htSNPs) and their statistical analysis in a multi-locus transmission/disequilibrium test (TDT) results in a more cost-effective genotyping strategy in disease association studies of genes by minimising redundancy due to linkage disequilibrium between SNPs. Further savings can be achieved by the use of a two-stage genotyping strategy. This approach is illustrated here in conjunction with the multi-locus TDT in determining whether common alleles of the immune regulatory genes RANK and its ligand TRANCE (RANKL) are associated with type 1 diabetes (T1D). A saving of approximately 75\% of potential genotyping reactions could be made with minimal loss of power. There was little evidence from our analysis for association between the TRANCE and RANK genes and T1D in the populations tested.


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