期刊
INTERNATIONAL JOURNAL OF CIRCUMPOLAR HEALTH
卷 66, 期 5, 页码 390-400出版社
INT ASSOC CIRCUMPOLAR HEALTH PUBL
DOI: 10.3402/ijch.v66i5.18311
关键词
apolipoproteins; genetics; single nucleotide polymorphisms; Greenland; complex disease; atherosclerosis
Objectives. We undertook studies of the association between common genomic variations in APOC3, APOA5, APOE and PONI 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 PONI. 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 PONI 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 PONI 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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