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)
- Gene summary:
- No gene (5)
- ADAMTS7 (1)
- FOXO1 (2)
- KL (2)
- LEPR (7)
- NCAPD2 (1)
- PPP1R9A (2)
- PSEN1 (1)
No gene
ADAMTS7
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
FOXO1
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
In other databases
- GenAge human genes
- This gene is present as FOXO1
KL
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
In other databases
LEPR
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
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
PPP1R9A
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
PSEN1
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
In other databases
- GenAge human genes
- This gene is present as PSEN1