Empirically Derived Phenotypic Subgroups – Qualitative and Quantitative Trait Analyses


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dc.contributor.author Wilcox, Marsha A en_US
dc.contributor.author Wyszynski, Diego F en_US
dc.contributor.author Panhuysen, Carolien I en_US
dc.contributor.author Ma, Qianli en_US
dc.contributor.author Yip, Agustin en_US
dc.contributor.author Farrell, John en_US
dc.contributor.author Farrer, Lindsay A en_US
dc.date.accessioned 2012-01-09T20:53:14Z
dc.date.available 2012-01-09T20:53:14Z
dc.date.copyright 2003 en_US
dc.date.issued 2003-12-31 en_US
dc.identifier.citation Wilcox, Marsha A, Diego F Wyszynski, Carolien I Panhuysen, Qianli Ma, Agustin Yip, John Farrell, Lindsay A Farrer. "Empirically derived phenotypic subgroups – qualitative and quantitative trait analyses" BMC Genetics 4(Suppl 1):S15. (2003) en_US
dc.identifier.issn 1471-2156 en_US
dc.identifier.uri http://hdl.handle.net/2144/2891
dc.description.abstract BACKGROUND. The Framingham Heart Study has contributed a great deal to advances in medicine. Most of the phenotypes investigated have been univariate traits (quantitative or qualitative). The aims of this study are to derive multivariate traits by identifying homogeneous groups of people and assigning both qualitative and quantitative trait scores; to assess the heritability of the derived traits; and to conduct both qualitative and quantitative linkage analysis on one of the heritable traits. METHODS. Multiple correspondence analysis, a nonparametric analogue of principal components analysis, was used for data reduction. Two-stage clustering, using both k-means and agglomerative hierarchical clustering, was used to cluster individuals based upon axes (factor) scores obtained from the data reduction. Probability of cluster membership was calculated using binary logistic regression. Heritability was calculated using SOLAR, which was also used for the quantitative trait analysis. GENEHUNTER-PLUS was used for the qualitative trait analysis. RESULTS. We found four phenotypically distinct groups. Membership in the smallest group was heritable (38%, p < 1 × 10-6) and had characteristics consistent with atherogenic dyslipidemia. We found both qualitative and quantitative LOD scores above 3 on chromosomes 11 and 14 (11q13, 14q23, 14q31). There were two Kong & Cox LOD scores above 1.0 on chromosome 6 (6p21) and chromosome 11 (11q23). CONCLUSION. This approach may be useful for the identification of genetic heterogeneity in complex phenotypes by clarifying the phenotype definition prior to linkage analysis. Some of our findings are in regions linked to elements of atherogenic dyslipidemia and related diagnoses, some may be novel, or may be false positives. en_US
dc.language.iso en en_US
dc.publisher BioMed Central en_US
dc.rights Copyright 2003 Wilcox et al; licensee BioMed Central Ltd This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. en_US
dc.rights.uri http://creativecommons.org/licenses/by/2.0 en_US
dc.title Empirically Derived Phenotypic Subgroups – Qualitative and Quantitative Trait Analyses en_US
dc.type article en_US
dc.identifier.doi 10.1186/1471-2156-4-S1-S15 en_US
dc.identifier.pubmedid 14975083 en_US
dc.identifier.pmcid 1866449 en_US

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