Journal
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 11, Issue 1, Pages 370-385Publisher
MDPI AG
DOI: 10.3390/ijms11010370
Keywords
ANGPTL4; TreeSAAP; treescan; phylogenetics; association studies; selection
Funding
- Brigham Young University Office of Research and Creative Activities
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Genotype/phenotype association analyses (Treescan) with plasma lipid levels and functional site prediction methods (TreeSAAP and PolyPhen) were performed using sequence data for ANGPTL4 from 3,551 patients in the Dallas Heart Study. Biological assays of rare variants in phenotypic tails and results from a Treescan analysis were used as known variants to assess the site prediction abilities of PolyPhen and TreeSAAP. The E40K variant in European Americans and the R278Q variant in African Americans were significantly associated with multiple lipid phenotypes. Combining TreeSAAP and PolyPhen performed well to predict known functional variants while reducing noise from false positives.
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