LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
Ashkenazi Jewish
Study Design
205 centenarians (141 females, median age = 97 years and 64 males, median age = 97 years), their offspring (n = 145 total, 80 females, median age = 69 years and 65 males median age = 68 years), and 288 controls (167 females, median age = 74 years and 121 males, median age = 75 years) were examined for the association between genotype and longevity
Conclusions
A U-shape pattern of MTP CC genotype frequency with aging was observed. The CC was a buffered-deleterious genotype in the case group. In the control group without longevity genes, CC genotype included poorer survivorship.

Variants (4)

ADIPOQ

1.
Identifier
rs56354395
Cytogenetic Location
3q27.3
UCSC Genome Browser
View 3q27.3 on the UCSC genome browser

Gene details

HGNC symbol
ADIPOQ
Aliases
ACDC; ADPN; APM1; APM-1; GBP28; ACRP30; ADIPQTL1 
Common name
adiponectin, C1Q and collagen domain containing 
Description
This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]
Other longevity studies of this gene
8
OMIM
605441
Ensembl
ENSG00000181092
UniProt/Swiss-Prot
A8K660_HUMAN
Entrez Gene
9370
UniGene
80485
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
adipoqb
Mus musculus
Adipoq
Rattus norvegicus
Adipoq

APOC3

1.
Identifier
rs2542052
In Other Studies (IDs)
213
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser

Gene details

HGNC symbol
APOC3
Aliases
HALP2; APOCIII 
Common name
apolipoprotein C3 
Description
Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels induces the development of hypertriglyceridemia. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
7
OMIM
107720
Ensembl
ENSG00000110245
UniProt/Swiss-Prot
A3KPE2_HUMAN
Entrez Gene
345
UniGene
73849
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Apoc3
Rattus norvegicus
Apoc3

In other databases

GenAge human genes
  • This gene is present as APOC3

CETP

1.
Identifier
rs5882
In Other Studies (IDs)
667 1300
Cytogenetic Location
16q13
UCSC Genome Browser
View 16q13 on the UCSC genome browser

Gene details

HGNC symbol
CETP
Aliases
BPIFF; HDLCQ10 
Common name
cholesteryl ester transfer protein 
Description
The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Other longevity studies of this gene
17
OMIM
118470
Ensembl
ENSG00000087237
UniProt/Swiss-Prot
A0A0S2Z3F6_HUMAN
Entrez Gene
1071
UniGene
89538
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
cetp

In other databases

GenAge human genes
  • This gene is present as CETP

MTTP

1.
Identifier
rs2866164
In Other Studies (IDs)
432 2068 2082 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

Huffman et al. (2012)

Other variants which are also part of this study