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
apobb.1
Danio rerio
apobb.2
Danio rerio
apoba
Drosophila melanogaster
Rfabg
Mus musculus
Apob
Rattus norvegicus
Apob

Studies (3)

Significant/Non-significant: 2/1

Study 1

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 2

    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

      Study 3

      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