title: A novel polymorphism of apolipoprotein A-IV is the result of an asparagine to serine substitution at residue 127.
abstract: We have identified a hitherto unknown genetic polymorphism of apolipoprotein A-IV (apoA-IV). The molecular basis for this polymorphism is an A to G substitution at nucleotide 1687 resulting in an Asn to Ser change of amino acid 127. The frequencies of the two apoA-IV alleles (designated apoA-IV127Asn and apoA-IV127Ser), determined by Hin c II restriction analysis of PCR amplified exon three of the apoA-IV gene, were 0.788 and 0.212, respectively, in a Finnish population sample. Allele frequencies of another polymorphism due to a Thr to Ser substitution at amino acid 347 were determined using Hinf I restriction analysis. The allele frequencies were 0.823 for apoA-IV347Thr and 0.177 for apoA-IV347Ser. None of the apoA-IV polymorphisms (apoA-IV127:Asn----Ser, apoA-IV347:Thr----Ser and apoA-IV360:Gln----His) had any effect on plasma lipid and lipoprotein concentrations in cohorts of dyslipidemic men and in a population sample of normolipidemic controls. There was also no association between the history of previous myocardial infarction and any of the apoA-IV alleles.
authors.affiliation: National Public Health Institute, First Department of Medicine, Helsinki, Finland.
authors.forename: H
authors.initials: H
authors.lastname: Tenkanen
authors.forename: P
authors.initials: P
authors.lastname: Koskinen
authors.forename: J
authors.initials: J
authors.lastname: Metso
authors.forename: M
authors.initials: M
authors.lastname: Baumann
authors.forename: M
authors.initials: M
authors.lastname: Lukka
authors.forename: R
authors.initials: R
authors.lastname: Kauppinen-Mäkelin
authors.forename: K
authors.initials: K
authors.lastname: Kontula
authors.forename: M R
authors.initials: MR
authors.lastname: Taskinen
authors.forename: M
authors.initials: M
authors.lastname: Mänttäri
authors.forename: V
authors.initials: V
authors.lastname: Manninen
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001054:Apolipoproteins A / Q000032:analysis / Q000235:genetics*; D001216:Asparagine; D001483:Base Sequence; D002784:Cholesterol / Q000097:blood; D003062:Codon; D005838:Genotype; D006801:Humans; D006949:Hyperlipidemias / Q000235:genetics; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008969:Molecular Sequence Data; D009203:Myocardial Infarction / Q000235:genetics; D011110:Polymorphism, Genetic; D012694:Serine; D013912:Threonine; D014280:Triglycerides / Q000097:blood
chemical_list: D001054:Apolipoproteins A; D003062:Codon; D008074:Lipoproteins; D014280:Triglycerides; C022205:apolipoprotein A-IV; D013912:Threonine; D012694:Serine; D001216:Asparagine; D002784:Cholesterol