LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
American (Caucasian)
Study Design
Genome-wide association study for longevity-related traits in up to 1345 Framingham Study participants from 330 families; 713 participants achieved age 65 years or greater. A total of 79 potential candidate genes and regions associated with longevity were also studied.
Conclusions
Although no genome-wide associations were significant, several SNPs in some previously associated genes with longevity had suggestive associations with age at death or morbidity-free survival at age 65 years. Noteworthy results included two SNPs within FOXO1A (rs10507486 and rs4943794) associated with age at death.

Variants (21)

No gene

1.
Identifier
rs10500784
Cytogenetic Location
2.
Identifier
rs2543600
Cytogenetic Location
3.
Identifier
rs2725369
Cytogenetic Location
4.
Identifier
rs719756
Cytogenetic Location
5.
Identifier
rs911847
In Other Studies (IDs)
2182
Cytogenetic Location

ADAMTS7

1.
Identifier
rs1383636
Cytogenetic Location
15q25.1
UCSC Genome Browser
View 15q25.1 on the UCSC genome browser

Gene details

HGNC symbol
ADAMTS7
Aliases
ADAM-TS7; ADAMTS-7; ADAM-TS; 7 
Common name
ADAM metallopeptidase with thrombospondin type 1 motif 7 
Description
The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and may regulate vascular smooth muscle cell (VSMC) migration. Mutations in this gene may be associated with susceptibility to coronary artery disease. [provided by RefSeq, Feb 2016]
OMIM
605009
Ensembl
ENSG00000136378
UniProt/Swiss-Prot
ATS7_HUMAN
Entrez Gene
11173
UniGene
16441
HapMap
View on HapMap

Homologs in model organisms

Drosophila melanogaster
CG4096
Mus musculus
Adamts7
Rattus norvegicus
Adamts7

FOXO1

1.
Identifier
rs4943794
In Other Studies (IDs)
1602
Cytogenetic Location
13q14.11
UCSC Genome Browser
View 13q14.11 on the UCSC genome browser
2.
Identifier
rs10507486
Cytogenetic Location
13q14.11
UCSC Genome Browser
View 13q14.11 on the UCSC genome browser

Gene details

HGNC symbol
FOXO1
Aliases
FKH1; FKHR; FOXO1A 
Common name
forkhead box O1 
Description
This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
30
OMIM
136533
Ensembl
ENSG00000150907
UniProt/Swiss-Prot
FOXO1_HUMAN
Entrez Gene
2308
UniGene
370666
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
foxo1b
Mus musculus
Foxo1
Rattus norvegicus
Foxo1

In other databases

GenAge human genes
  • This gene is present as FOXO1

KL

1.
Identifier
rs683907
Cytogenetic Location
13q13.1
UCSC Genome Browser
View 13q13.1 on the UCSC genome browser
2.
Identifier
rs687045
Cytogenetic Location
13q13.1
UCSC Genome Browser
View 13q13.1 on the UCSC genome browser

Gene details

HGNC symbol
KL
Aliases
 
Common name
klotho 
Description
This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
6
OMIM
604824
Ensembl
ENSG00000133116
UniProt/Swiss-Prot
KLOT_HUMAN
Entrez Gene
9365
UniGene
524953
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
kl
Mus musculus
Kl
Rattus norvegicus
Kl

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Kl
GenAge human genes
  • This gene is present as KL
CellAge
  • This gene is present as KL

LEPR

1.
Identifier
rs10493379
Cytogenetic Location
1p31.3
UCSC Genome Browser
View 1p31.3 on the UCSC genome browser
2.
Identifier
rs1171278
Cytogenetic Location
1p31.3
UCSC Genome Browser
View 1p31.3 on the UCSC genome browser
3.
Identifier
rs1343981
Cytogenetic Location
1p31.3
UCSC Genome Browser
View 1p31.3 on the UCSC genome browser
4.
Identifier
rs1475398
Cytogenetic Location
1p31.3
UCSC Genome Browser
View 1p31.3 on the UCSC genome browser
5.
Identifier
rs2154380
Cytogenetic Location
1p31.3
UCSC Genome Browser
View 1p31.3 on the UCSC genome browser
6.
Identifier
rs3790426
Cytogenetic Location
1p31.3
UCSC Genome Browser
View 1p31.3 on the UCSC genome browser
7.
Identifier
rs6669117
Cytogenetic Location
1p31.3
UCSC Genome Browser
View 1p31.3 on the UCSC genome browser

Gene details

HGNC symbol
LEPR
Aliases
OBR; OB-R; CD295; LEP-R; LEPRD 
Common name
leptin receptor 
Description
The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]
Other longevity studies of this gene
10
OMIM
601007
Ensembl
ENSG00000116678
UniProt/Swiss-Prot
LEPR_HUMAN
Entrez Gene
3953
UniGene
23581
HapMap
View on HapMap

Homologs in model organisms

No homologs found

In other databases

GenAge human genes
  • This gene is present as LEPR

NCAPD2

1.
Identifier
rs4764600
Cytogenetic Location
12p13.31
UCSC Genome Browser
View 12p13.31 on the UCSC genome browser

Gene details

HGNC symbol
NCAPD2
Aliases
CNAP1; CAP-D2; hCAP-D2 
Common name
non-SMC condensin I complex subunit D2 
Description
OMIM
615638
Ensembl
ENSG00000010292
UniProt/Swiss-Prot
B3KMS0_HUMAN
Entrez Gene
9918
UniGene
5719
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
dpy-28
Danio rerio
ncapd2
Drosophila melanogaster
CAP-D2
Mus musculus
Ncapd2
Rattus norvegicus
Ncapd2
Saccharomyces cerevisiae
YCS4
Schizosaccharomyces pombe
cnd1

PPP1R9A

1.
Identifier
rs2374983
In Other Studies (IDs)
1398 2862
Cytogenetic Location
7q21.3
UCSC Genome Browser
View 7q21.3 on the UCSC genome browser
2.
Identifier
rs854523
Cytogenetic Location
7q21.3
UCSC Genome Browser
View 7q21.3 on the UCSC genome browser

Gene details

HGNC symbol
PPP1R9A
Aliases
NRB1; NRBI; Neurabin-I 
Common name
protein phosphatase 1 regulatory subunit 9A 
Description
This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Other longevity studies of this gene
5
OMIM
602468
Ensembl
ENSG00000158528
UniProt/Swiss-Prot
A4D1I0_HUMAN
Entrez Gene
55607
UniGene
21816
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ppp1r9a
Drosophila melanogaster
Spn
Mus musculus
Ppp1r9a
Rattus norvegicus
Ppp1r9a

PSEN1

1.
Identifier
rs362356
Cytogenetic Location
14q24.2
UCSC Genome Browser
View 14q24.2 on the UCSC genome browser

Gene details

HGNC symbol
PSEN1
Aliases
AD3; FAD; PS1; PS-1; S182 
Common name
presenilin 1 
Description
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]
OMIM
104311
Ensembl
ENSG00000080815
UniProt/Swiss-Prot
A0A024R6A3_HUMAN
Entrez Gene
5663
UniGene
3260
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
psen1
Drosophila melanogaster
Psn
Mus musculus
Psen1
Rattus norvegicus
Psen1

In other databases

GenAge human genes
  • This gene is present as PSEN1

References

Lunetta et al. (2007)

Other variants which are also part of this study