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Effects of apolipoprotein A‐I genetic variations on plasma apolipoprotein, serum lipoprotein and glucose levels
Author(s) -
Larson IA,
Ordovas JM,
Barnard JR,
Hoffmann MM,
Feussner G,
LamonFava S,
Schaefer EJ
Publication year - 2002
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2002.610302.x
Subject(s) - medicine , apolipoprotein b , endocrinology , allele , lipoprotein , linkage disequilibrium , cholesterol , lipoprotein(a) , biology , haplotype , genetics , gene
The present authors investigated the individual and combined associations of the apolipoprotein (apo) A‐I −75 bp and +83 bp polymorphisms with plasma lipid, lipoprotein and apolipoprotein levels in 734 Caucasian men and women. The frequency of the A allele at position −75 bp (G→A) was 0.14 in women and 0.17 in men. The frequencies for the rare M2 allele at position +83 bp and/or 84 bp (C→T and G→A, respectively) were 0.04 and 0.05 in women and men, respectively. In women, the A allele was associated with significantly higher levels of apo B ( P = 0.016), total cholesterol (TC) ( P = 0.005), low‐density lipoprotein cholesterol (LDL‐C) ( P = 0.018) and TC:high‐densisty lipoprotein (HDL) ratio ( P = 0.026) compared to the G/G subjects. In men, no significant associations were detected between the −75 bp polymorphism and any lipid trait examined. The M2 allele for the +83 bp polymorphism was significantly associated in men with higher levels of apo A‐I ( P = 0.002) and TC ( P = 0.046). In women, a significant effect was observed for TC ( P = 0.036), with M2+/– subjects having lower levels than M2+/+ subjects. Significant linkage disequilibrium ( P = 0.037) between the apo A‐I −75 bp and +83 bp polymorphisms was detected. Women carrying both rare alleles (G/A M2+/–) had significantly higher TC:HDL ratios ( P = 0.031) compared to the other haplotypes. In men, significant differences were observed for apo A‐I ( P = 0.021) and TC ( P = 0.044), with carriers of the G/G M2+/– haplotype having the highest values compared to other genotype combinations. In conclusion, the −75 bp (G/A) polymorphism appears to have a significant effect on levels of apo B, plasma TC and LDL‐C in women, while the +83 bp polymorphism seems to affect the apo A‐I levels in men, and the plasma cholesterol levels in both genders.