Abstract
BackgroundBecause high blood pressure, altered lipid levels, obesity, and diabetes so frequently occur together, they are sometimes collectively referred to as the metabolic syndrome. While there have been many studies of each metabolic syndrome trait separately, few studies have attempted to analyze them combined, i.e., as one composite variable, in quantitative trait linkage or association analysis. We used genotype and phenotype data from the Framingham Heart Study to perform a full-genome scan for quantitative trait loci underlying the metabolic syndrome.ResultsHeritability estimates for all of the covariate-adjusted and age- and gender-standardized individual traits, and the composite metabolic syndrome trait, were all fairly high (0.39–0.62), and the composite trait was among the highest at 0.61. The composite trait yielded no regions with suggestive linkage by Lander and Kruglyak's criteria, although there were several noteworthy regions for individual traits, some of which were also observed for the composite variable.ConclusionDespite its high heritability, the composite metabolic syndrome trait variable did not increase the power to detect or localize linkage peaks in this sample. However, this strategy and related methods of combining correlated individual traits deserve further investigation, particularly in settings with complex causal pathways.
Highlights
Because high blood pressure, altered lipid levels, obesity, and diabetes so frequently occur together, they are sometimes collectively referred to as the metabolic syndrome
MSS, as a sum of standard deviations from the mean for each of the component traits, is not readily interpretable beside these raw values, so it is not included in Table 1: it exhibited a mean of 0.15, a standard deviation of 2.7, and a range of -7.3 to 11.8
Heritability estimates Heritability estimates for the individual component traits were all fairly high, ranging from 0.39 to 0.62, and MSS was at the high end of this range at 0.61 (Table 2)
Summary
Because high blood pressure, altered lipid levels, obesity, and diabetes so frequently occur together, they are sometimes collectively referred to as the metabolic syndrome. Several identified risk factors for CAD, including diabetes mellitus, arterial hypertension, hypercholesterolemia, and obesity show strong and at least partially independent genetic components [1]. Because high blood pressure, altered lipid levels, obesity, and diabetes so frequently occur together, they are sometimes collectively referred to as the metabolic syndrome or syndrome X (MSX [5]). While there have been many studies of each MSX trait separately [2,6], only a few studies have considered the syndrome itself, either as a whole or broken into factors, in quantitative trait linkage or association analysis (e.g., [79])
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