2021
DOI: 10.1155/2021/3889278
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Quantile-Dependent Expressivity of Serum Uric Acid Concentrations

Abstract: Objective. “Quantile-dependent expressivity” occurs when the effect size of a genetic variant depends upon whether the phenotype (e.g., serum uric acid) is high or low relative to its distribution. Analyses were performed to test whether serum uric acid heritability is quantile-specific and whether this could explain some reported gene-environment interactions. Methods. Serum uric acid concentrations were analyzed from 2151 sibships and 12,068 offspring-parent pairs from the Framingham Heart Study. Quantile-sp… Show more

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Cited by 3 publications
(2 citation statements)
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“…The statistical analyses have been described elsewhere, [12][13][14][15][16][17][18][19][20][21][22][23][24][25] and summarized briefly here. Individual subject values are the average of the age-and sex-adjusted concentrations over all available exams.…”
Section: Statisticsmentioning
confidence: 99%
See 1 more Smart Citation
“…The statistical analyses have been described elsewhere, [12][13][14][15][16][17][18][19][20][21][22][23][24][25] and summarized briefly here. Individual subject values are the average of the age-and sex-adjusted concentrations over all available exams.…”
Section: Statisticsmentioning
confidence: 99%
“…11 "Quantile-dependent expressivity" refers to the phenotypic expression of a genetic variant being dependent on whether the trait is high or low relative to its distribution. 12 For example, the heritability of total and HDL cholesterol, [13][14][15] triglycerides, 16 leptin, 17 glucose, 18 insulin, 18 uric acid 19 and adiponectin concentrations, 20 coffee and alcohol consumption, 21,22 adiposity, 12,23 and postprandial lipemia 24 increase with increasing quantiles of each trait, whereas intakes of other macronutrients and height do not. 12,22,23 One potential consequence of quantile-dependent expressivity is that sampling by characteristics that distinguish high-vs low-valued phenotypes may produce genetic differences traditionally ascribed to geneenvironment, gene-drug and gene-diet interactions when a simpler explanation of quantile-dependence might suffice.…”
Section: Introductionmentioning
confidence: 99%