title: Adenine for guanine substitution -78 base pairs 5' to the apolipoprotein (APO) A-I gene: relation with high density lipoprotein cholesterol and APO A-I concentrations.
abstract: A common mutation, adenine (A) for guanidine (G) substitution (G/A) has been located -78 bp 5' to the apo A-I gene. This region has been shown to be involved in the transcriptional regulation of the apo A-I gene. Previous studies have shown that this mutation is associated with altered high density lipoprotein cholesterol (HDL-C) levels, although these findings have not been consistent. We have studied the frequency of this mutation in 125 subjects (60 males and 65 females) selected because they had HDL-C levels below the 25th (low HDL) or above the 75th (high HDL) percentile of the population distribution. The presence of the mutation was detected by Msp I digestion of a 259 bp fragment of PCR amplified DNA. The allele frequency was similar in both groups (0.20 for the lowest HDL group and 0.28 for the highest HDL group, p > 0.05), although a non-significant trend was observed in a higher frequency of the A/A genotype in the highest HDL females (17.5%) vs only 6.7% in the lowest HDL female group. In conclusion, in this population the G/A mutation was not significantly associated with HDL-C or apo A-I plasma levels.
authors.affiliation: Departamento de Bioquimica y Biologia Molecular y Celular, Universidad de Zaragoza, Spain.
authors.forename: F
authors.initials: F
authors.lastname: Civeira
authors.forename: M
authors.initials: M
authors.lastname: Pocovi
authors.forename: A
authors.initials: A
authors.lastname: Cenarro
authors.forename: C
authors.initials: C
authors.lastname: Garces
authors.forename: J M
authors.initials: JM
authors.lastname: Ordovas
mesh_terms: D000328:Adult; D016632:Apolipoprotein A-I / Q000235:genetics* / Q000378:metabolism*; D001483:Base Sequence; D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood*; D004247:DNA / Q000097:blood; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006801:Humans; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D012737:Sex Factors; D014280:Triglycerides / Q000097:blood
chemical_list: D016632:Apolipoprotein A-I; D008076:Cholesterol, HDL; D008074:Lipoproteins; D014280:Triglycerides; D004247:DNA; D002784:Cholesterol