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Human QTL linkage mapping

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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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Acknowledgements

This work was supported in part by NIH grants R01 MH59490, R01 GM31575, U10 AA08403, R01 HL45522, R01 MH78111, and R01 HL070751. Thanks also to the NIH and NSF for travel support to attend ICQG3.

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  1. Department of Genetics, Southwest Foundation for Biomedical Research, P.O. Box 760549, San Antonio, TX, 78245-0549, USA

    Laura Almasy & John Blangero

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  1. Laura Almasy
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  2. John Blangero
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Correspondence to Laura Almasy.

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Almasy, L., Blangero, J. Human QTL linkage mapping. Genetica 136, 333–340 (2009). https://doi.org/10.1007/s10709-008-9305-3

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