Abstract
Although current methods in genetic epidemiology have been extremely successful in identifying genetic loci responsible for Mendelian traits, most common diseases do not follow simple Mendelian modes of inheritance. It is important to consider how our current methodologies function in the realm of complex diseases. The aim of this study was to determine the ability of conventional association methods to fine map a locus of interest. Six study populations were selected from 10 replicates (New York) from the Genetic Analysis Workshop 14 simulated dataset and analyzed for association between the disease trait and locus D2. Genotypes from 45 single-nucleotide polymorphisms in the telomeric region of chromosome 3 were analyzed by Pearson's chi-square tests for independence to test for association with the disease trait of interest. A significant association was detected within the region; however, it was found 3 cM from the documented location of the D2 disease locus. This result was most likely due to the method used for data simulation. In general, this study showed that conventional case-control association methods could detect disease loci responsible for the development of complex traits.
Highlights
Current linkage and association methods have proven to be extremely successful in identifying genetic loci responsible for the development of diseases shown to have simple Mendelian modes of inheritance
A significant association was detected between markers B03T3056, B03T3057, B03T3058, and C03R0281 and the disease trait
No association was detected for SNPs closer to the disease locus, which was reported to be linked to SNP B03T3067
Summary
Current linkage and association methods have proven to be extremely successful in identifying genetic loci responsible for the development of diseases shown to have simple Mendelian modes of inheritance. The behavioral disorder, Kofendrerd Personality Disorder (KPD), is characterized by the presence of any one of 12 clinical characteristics, which may be divided into three diagnostic groups (phenotype 1, 2, and 3). Each of these phenotypic groups is the result of simultaneous mutations in at least 2 loci with varying modes of inheritance.
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