Human QTL linkage mapping |
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Authors: | Laura Almasy John Blangero |
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Institution: | (1) Department of Genetics, Southwest Foundation for Biomedical Research, P.O. Box 760549, San Antonio, TX 78245-0549, USA |
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Abstract: | Human quantitative trait locus (QTL) linkage mapping, although based on classical statistical genetic methods that have been
around for many years, has been employed for genome-wide screening for only the last 10–15 years. In this time, there have
been many success stories, ranging from QTLs that have been replicated in independent studies to those for which one or more
genes underlying the linkage peak have been identified to a few with specific functional variants that have been confirmed
in in vitro laboratory assays. Despite these successes, there is a general perception that linkage approaches do not work
for complex traits, possibly because many human QTL linkage studies have been limited in sample size and have not employed
the family configurations that maximize the power to detect linkage. We predict that human QTL linkage studies will continue
to be productive for the next several years, particularly in combination with RNA expression level traits that are showing
evidence of regulatory QTLs of large effect sizes and in combination with high-density genome-wide SNP panels. These SNP panels
are being used to identify QTLs previously localized by linkage and linkage results are being used to place informative priors
on genome-wide association studies. |
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Keywords: | Genome screen Haseman– Elston IBD Quantitative traits Variance components |
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