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Blood, 15 December 2003, Vol. 102, No. 13, pp. 4563-4566. Prepublished online as a Blood First Edition Paper on August 7, 2003; DOI 10.1182/blood-2003-04-1278. This Article Full Text Full Text (PDF) All Versions of this Article: 2003-04-1278v1 102/13/4563    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by McLaren, C. E. Articles by Gordeuk, V. R. Search for Related Content PubMed PubMed Citation Articles by McLaren, C. E. Articles by Gordeuk, V. R. Related Collections Clinical Trials and Observations Red Cells Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  RED CELLS Mixture distribution analysis of phenotypic markers reflecting HFE gene mutations Christine E. McLaren, Kuo-Tung Li, Chad P. Garner, Ernest Beutler, and Victor R. Gordeuk From the Epidemiology Division, University of California, Irvine; the Chao Family Comprehensive Cancer Center, Orange; the Scripps Research Institute, La Jolla, CA; and the Division of Hematology/Oncology, Department of Medicine, Howard University, Washington, DC. The goal of this study was to determine whether statistical modeling of population data for a phenotypic marker could reflect a major locus gene defect. Identifying mutations in the HFE gene makes it possible to assess the association between transferrin saturation (TS) subpopulations and HFE mutations. Data were analyzed from 27 895 white patients who attended a health appraisal clinic and who had TS and common mutations of HFE determined. Mixture distribution modeling of TS was performed, and the proportion of HFE mutations in TS subpopulations was assessed on a probability basis. Three subpopulations of TS were identified, consistent with Hardy-Weinberg conditions for major locus effects. For men, 72% of the subpopulation with the highest mean TS had HFE gene mutations; they were primarily homozygotes or compound heterozygotes. Seventy-three percent of the subpopulation with moderate mean TS also had HFE gene mutations; they were predominantly simple heterozygotes. Sixty-seven percent of the subpopulation with the lowest mean TS were wild-type homozygotes. Similar results were observed for women. These results suggest that statistical modeling of population clinical laboratory test data can reveal the influence of a major locus gene defect and perhaps can be applied to other aspects of body metabolism than iron. (Blood. 2003;102:4563-4566) CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

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