LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
German
Study Design
Targeted investigation of 500 SNPs in 343 selected genes associated with longevity in model systems. A sample of 386 unrelated German centenarians (mean age: 101.3 years) and 410 control subjects (mean age: 66.6 years) were studied.
Conclusions
No significant associations were found after correcting for multiple testing, though three SNPs (rs770087, rs2301582 and rs648802 in, respectively, DUSP6, NALP1 and PERP) had a suggestive association. This association was not confirmed in an independent French collection of 541 centenarians and 469 younger controls.

Variants (3)

DUSP6

1.
Identifier
rs770087
Cytogenetic Location
12q21.33
UCSC Genome Browser
View 12q21.33 on the UCSC genome browser

Gene details

HGNC symbol
DUSP6
Aliases
HH19; MKP3; PYST1 
Common name
dual specificity phosphatase 6 
Description
The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
OMIM
602748
Ensembl
ENSG00000139318
UniProt/Swiss-Prot
A0A024RBC1_HUMAN
Entrez Gene
1848
UniGene
298654
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
dusp6
Mus musculus
Dusp6
Rattus norvegicus
Dusp6

NLRP1

1.
Identifier
rs2301582
Cytogenetic Location
17p13.2
UCSC Genome Browser
View 17p13.2 on the UCSC genome browser

Gene details

HGNC symbol
NLRP1
Aliases
NAC; MSPC; AIADK; CARD7; CIDED; NALP1; SLEV1; DEFCAP; PP1044; VAMAS1; CLR17.1; DEFCAP-L/S 
Common name
NLR family pyrin domain containing 1 
Description
This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
OMIM
606636
Ensembl
ENSG00000091592
UniProt/Swiss-Prot
NLRP1_HUMAN
Entrez Gene
22861
UniGene
652273
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Nlrp1b
Rattus norvegicus
Nlrp1b

PERP

1.
Identifier
rs648802
Cytogenetic Location
6q23.3
UCSC Genome Browser
View 6q23.3 on the UCSC genome browser

Gene details

HGNC symbol
PERP
Aliases
THW; KCP1; PIGPC1; KRTCAP1; dJ496H19.1 
Common name
PERP, TP53 apoptosis effector 
Description
OMIM
609301
Ensembl
ENSG00000112378
UniProt/Swiss-Prot
PERP_HUMAN
Entrez Gene
64065
UniGene
201446
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
vab-9
Danio rerio
perp
Drosophila melanogaster
CG6982
Mus musculus
Perp
Rattus norvegicus
Perp

References

Flachsbart et al. (2010)

Other variants which are also part of this study