LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
German
Study Design
Genome-wide association study comparing 664,472 autosomal SNPs in 763 long-lived individuals (mean age: 99.7 years) and 1085 controls (mean age: 60.2 years). Top SNPs from the GWAS were further investigated in an independent German sample comprised of 754 long-lived individuals (mean age: 96.9 years) and 860 controls (mean age: 67.3 years).
Conclusions
Fifteen SNPs had indicative association with longevity, even if not statistically significant after correcting for multiple hypothesis testing. None of these SNPs were validated in the follow-up analysis. Since rs12741354 (in ASTN1) was nearly significant, it was further investigated in French centenarians but it failed to be associated with longevity.

Variants (16)

No gene

1.
Identifier
rs2338013
Cytogenetic Location
2.
Identifier
rs3129046
Cytogenetic Location
3.
Identifier
rs1610742
Cytogenetic Location
4.
Identifier
rs1610601
Cytogenetic Location
5.
Identifier
rs11790055
Cytogenetic Location
6.
Identifier
rs10959258
Cytogenetic Location
7.
Identifier
rs9595687
Cytogenetic Location
8.
Identifier
rs1575892
Cytogenetic Location
9.
Identifier
rs16947526
Cytogenetic Location

ASTN1

1.
Identifier
rs12741354
Cytogenetic Location
1q25.2
UCSC Genome Browser
View 1q25.2 on the UCSC genome browser

Gene details

HGNC symbol
ASTN1
Aliases
ASTN 
Common name
astrotactin 1 
Description
Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009]
OMIM
600904
Ensembl
ENSG00000152092
UniProt/Swiss-Prot
A6H8Y4_HUMAN
Entrez Gene
460
UniGene
495897
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
astn1
Mus musculus
Astn1
Rattus norvegicus
Astn1

LOC105378963

1.
Identifier
rs350450
Cytogenetic Location
5q11.2
UCSC Genome Browser
View 5q11.2 on the UCSC genome browser

Gene details

HGNC symbol
LOC105378963
Aliases
 
Common name
uncharacterized LOC105378963 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105378963
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC107987427

1.
Identifier
rs1633063
Cytogenetic Location

Gene details

HGNC symbol
LOC107987427
Aliases
 
Common name
uncharacterized LOC107987427 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
107987427
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

MOG

1.
Identifier
rs29228
Cytogenetic Location
6p22.1
UCSC Genome Browser
View 6p22.1 on the UCSC genome browser

Gene details

HGNC symbol
MOG
Aliases
BTN6; BTNL11; MOGIG2; NRCLP7 
Common name
myelin oligodendrocyte glycoprotein 
Description
The product of this gene is a membrane protein expressed on the oligodendrocyte cell surface and the outermost surface of myelin sheaths. Due to this localization, it is a primary target antigen involved in immune-mediated demyelination. This protein may be involved in completion and maintenance of the myelin sheath and in cell-cell communication. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
OMIM
159465
Ensembl
ENSG00000204655
UniProt/Swiss-Prot
MOG_HUMAN
Entrez Gene
4340
UniGene
141308
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Mog
Rattus norvegicus
Mog

NEDD4L

1.
Identifier
rs158869
Cytogenetic Location
18q21.31
UCSC Genome Browser
View 18q21.31 on the UCSC genome browser

Gene details

HGNC symbol
NEDD4L
Aliases
RSP5; PVNH7; NEDD4-2; NEDD4.2; hNEDD4-2 
Common name
neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 
Description
This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
OMIM
606384
Ensembl
ENSG00000049759
UniProt/Swiss-Prot
A0A024R281_HUMAN
Entrez Gene
23327
UniGene
185677
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
nedd4l
Mus musculus
Nedd4l
Rattus norvegicus
Nedd4l

TP53

1.
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser

Gene details

HGNC symbol
TP53
Aliases
P53; BCC7; LFS1; TRP53 
Common name
tumor protein p53 
Description
This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
Other longevity studies of this gene
47
OMIM
191170
Ensembl
ENSG00000141510
UniProt/Swiss-Prot
A0A087WT22_HUMAN
Entrez Gene
7157
UniGene
437460
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tp53
Mus musculus
Tp53
Rattus norvegicus
Tp53

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Trp53
GenAge human genes
  • This gene is present as TP53
CellAge
  • This gene is present as TP53

ZFP57

1.
Identifier
rs3129063
Cytogenetic Location
6p22.1
UCSC Genome Browser
View 6p22.1 on the UCSC genome browser

Gene details

HGNC symbol
ZFP57
Aliases
TNDM1; ZNF698; C6orf40; bA145L22; bA145L22.2 
Common name
ZFP57 zinc finger protein 
Description
The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]
OMIM
612192
Ensembl
ENSG00000204644
UniProt/Swiss-Prot
B7ZW61_HUMAN
Entrez Gene
346171
UniGene
156326
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Zfp57
Rattus norvegicus
Zfp57

References

Nebel et al. (2011)

Other variants which are also part of this study