LongevityMap variant

Entry Details

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.

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]
Other longevity studies of this gene: 2
OMIM: 107730
Ensembl: ENSG00000084674
UniProt/Swiss-Prot: APOB_HUMAN
Entrez Gene: 338
UniGene: 120759
HapMap: View on HapMap