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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Common variants APOC3, APOA5, APOE and PON1 are associated with variation in plasma lipoprotein traits in
Piya Lahiry1, Matthew R Ban, Rebecca L Pollex
1Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada.
Objectives:
We undertook studies of the association between common genomic variations in APOC3, APOA5, APOE and PON1 genes and variation in biochemical phenotypes in a sample of Greenlanders.
Study Design:
Genetic association study of quantitative lipoprotein traits.
Methods:
In a sample of 1,310 adult Greenlanders, fasting plasma lipid, lipoprotein and apolipoprotein (apo) concentrations were assessed for association with known functional genomic variants of APOC3, APOA5, APOE and PON1. For significantly associated polymorphisms, between-genotype differences were examined in closer detail.
Results:
We found that (1) the APOE restriction isotype was associated with variation in plasma total and LDL cholesterol and apo B (all p < .0001); (2) the APOC3 promoter genotype was associated with variation in plasma triglycerides, HDL cholesterol and apo A-I (all p < .002); (3) the APOA5 codon 19 genotype was associated with variation in plasma triglycerides (p = .027); and (4) the PON1 codon 192 genotype was associated with variation in total and LDL cholesterol and apo B (all p < .05).
Conclusions:
Taken together, our results suggest that common genetic variations in APOC3, APOA5, APOE and PON1 are associated with significant variation in intermediate traits in plasma lipoprotein metabolism in Greenlanders; the associations are similar to those observed for these variants in other populations.
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