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DNA polymorphisms of human apolipoprotein A‐IV gene: frequency and effects on lipid, lipoprotein and apolipoprotein levels in a French population
Author(s) -
Zaiou Mohamed,
Visvikis Sophia,
Gueguen René,
Parra HenriJoseph,
Fruchart Jean Charles,
Siest Gérard
Publication year - 1994
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 - 10.1111/j.1399-0004.1994.tb04235.x
Subject(s) - apolipoprotein b , biology , allele , population , restriction fragment length polymorphism , allele frequency , genetics , polymerase chain reaction , lipoprotein , microbiology and biotechnology , cholesterol , gene , endocrinology , medicine , environmental health
Genetic polymorphisms of apolipoprotein (apo) A‐IV have been shown to influence lipoprotein metabolism in some human populations. In this study, we have evaluated the physiological effect of three apo A‐IV polymorphisms (Gln 360‐ < His , Thr 347‐ < Ser and XbaI within the second intron of the apo A‐IV gene), in a French population, on seven quantitative traits: total cholesterol and triglycerides, cholesterol of HDL, apo A‐IV, apo B, apo A‐I and glucose. The polymorphism at amino‐acid 360 was determined by direct analysis of polymerase chain reaction products. The allele frequencies were 0.92 for the A‐IV 1 and 0.08 for the A‐IV 2 allele. The genetic polymorphism at codon 347 was investigated by allele‐specific oligonucleotide hybridization. The allele frequencies of the two alleles, A‐IV 347Thr and A‐IV 347Ser , were 0.78 and 0.22, respectively. The XbaI polymorphism was investigated by polymerase chain reaction followed by XbaI restriction enzyme digestion of the amplified products. The frequencies of the two apo A‐IV alleles, XbaI‐1 and XbaI‐2, were 0.79 and 0.21, respectively. None of the three apo A‐IV polymorphisms had a significant effect on lipoprotein, apolipoprotein and glucose levels.