LongevityMap Gene

Gene details

HGNC symbol
APOB 
Aliases
FLDB; LDLCQ4; apoB-48; apoB-100 
Common name
apolipoprotein B 
Description
This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008]
Cytogenetic Location
2p24.1
UCSC Genome Browser
View 2p24.1 on the UCSC genome browser
OMIM
107730
Ensembl
ENSG00000084674
UniProt/Swiss-Prot
APOB_HUMAN
Entrez Gene
338
UniGene
120759
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
uncharacterized_E7FB
Mus musculus
Apob
Rattus norvegicus
Apob

Studies (3)

Significant/Non-significant: 2/1

Study 1

Longevity Association
Significant
Population
Italian
Study Design
A sample of 143 centenarians and a control sample of 158 individuals were examined for polymorphism in APOB restriction fragment length (RFLP) (XbaI2488 and EcoRI4154) and variable number of tandem repeat (VNTR) (3'APOB-VNTR) polymorphisms
Conclusions
Neither the XbaI-RFLP nor the EcoRI-RFLP was able to discriminate between centenarians and controls, while the 3'APOB-VNTR multiallelic system revealed significant differences between the samples: the frequency of alleles with fewer than 35 repeats was lower in centenarians than in controls
Indentifier
APOB
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    Finnish
    Study Design
    The apolipoprotein B Xba I polymorphism was examined in 179 Finnish centenarians
    Conclusions
    The frequencies of the Xba I alleles among the centenarians and among the young Finns were not significantly different
    Indentifier
    APOB
    Reference

      Study 3

      Longevity Association
      Significant
      Population
      Finnish
      Study Design
      The apolipoprotein B EcoRI and Xba I polymorphisms were examined in Finnish nonagenarians
      Conclusions
      The frequency of the EcoRI allele R- was somewhat lower in the nonagenarians, particularly in women. The allele frequency for the Xba I polymorphism did not differ between the nonagenarians and the younger groups.
      Indentifier
      APOB
      Reference