LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
American (Caucasian), French
Study Design
A haplotype-based fine-mapping study was performed in 653 individuals (456 females, >= 98 years, mean age = 100.8 years) and controls (< 50 years, mean age = 38.6 years). Then, the identified haplotype marker was tested in 564 French (472 females, >= 99 years, mean age = 103.1 years) and 564 controls (18- 70 years, mean age = 51.2 years).
Conclusions
Although the association was not replicated in French cohort, there was evidence for statistical distortion in the form of Hardy–Weinberg disequilibrium.
Identifier
rs2866164
In Other Studies (IDs)
432 1945 2068 3461
Cytogenetic Location
4q23
UCSC Genome Browser
View 4q23 on the UCSC genome browser

Gene details

HGNC symbol
MTTP
Aliases
ABL; MTP 
Common name
microsomal triglyceride transfer protein 
Description
MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
20
OMIM
157147
Ensembl
ENSG00000138823
UniProt/Swiss-Prot
B7Z7X3_HUMAN
Entrez Gene
4547
UniGene
195799
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
mtp
Drosophila melanogaster
Mtp
Mus musculus
Mttp
Rattus norvegicus
Mttp

References

Geesaman et al. (2003)

Other variants which are also part of this study