LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
Dutch
Study Design
A set of alleles associated with age-related diseases was tested for association with human longevity in 723 nonagenarian siblings and 721 unrelated younger controls plus 979 singleton individuals >85 years of age and 1,167 younger controls
Conclusions
No differences were observed in disease risk allele frequency between long-lived individuals and controls. No individual allele was significantly associated with survival to old age after controlling for multiple testing.

Variants (30)

No gene

1.
Identifier
rs10515869
Cytogenetic Location
2.
Identifier
rs10757278
Cytogenetic Location
3.
Identifier
rs1333049
In Other Studies (IDs)
380 387 391
Cytogenetic Location
4.
Identifier
rs10811661
In Other Studies (IDs)
640
Cytogenetic Location
5.
Identifier
rs1111875
Cytogenetic Location
6.
Identifier
rs1495377
Cytogenetic Location
7.
Identifier
rs5945572
Cytogenetic Location

CASC8

1.
Identifier
rs7014346
Cytogenetic Location
8q24.21
UCSC Genome Browser
View 8q24.21 on the UCSC genome browser
2.
Identifier
rs1447295
Cytogenetic Location
8q24.21
UCSC Genome Browser
View 8q24.21 on the UCSC genome browser

Gene details

HGNC symbol
CASC8
Aliases
CARLo-1; LINC00860 
Common name
cancer susceptibility 8 (non-protein coding) 
Description
Other longevity studies of this gene
1
OMIM
Ensembl
ENSG00000246228
UniProt/Swiss-Prot
Entrez Gene
727677
UniGene
673248
HapMap
View on HapMap

Homologs in model organisms

No homologs found

CCAT2

1.
Identifier
rs6983267
Cytogenetic Location
8q24.21
UCSC Genome Browser
View 8q24.21 on the UCSC genome browser

Gene details

HGNC symbol
CCAT2
Aliases
NCCP1; LINC00873 
Common name
colon cancer associated transcript 2 (non-protein coding) 
Description
OMIM
Ensembl
ENSG00000280997
UniProt/Swiss-Prot
Entrez Gene
101805488
UniGene
745578
HapMap
View on HapMap

Homologs in model organisms

No homologs found

CDKAL1

1.
Identifier
rs7754840
Cytogenetic Location
6p22.3
UCSC Genome Browser
View 6p22.3 on the UCSC genome browser

Gene details

HGNC symbol
CDKAL1
Aliases
 
Common name
CDK5 regulatory subunit associated protein 1 like 1 
Description
The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]
OMIM
611259
Ensembl
ENSG00000145996
UniProt/Swiss-Prot
CDKAL_HUMAN
Entrez Gene
54901
UniGene
657604
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
Y92H12BL.1
Danio rerio
cdkal1
Drosophila melanogaster
CG6550
Mus musculus
Cdkal1

CDKN2B-AS1

1.
Identifier
rs564398
Cytogenetic Location
9p21.3
UCSC Genome Browser
View 9p21.3 on the UCSC genome browser

Gene details

HGNC symbol
CDKN2B-AS1
Aliases
ANRIL; p15AS; PCAT12; CDKN2BAS; CDKN2B-AS; NCRNA00089 
Common name
CDKN2B antisense RNA 1 
Description
This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960). [provided by RefSeq, May 2014]
Other longevity studies of this gene
2
OMIM
613149
Ensembl
ENSG00000240498
UniProt/Swiss-Prot
Entrez Gene
100048912
UniGene
493614
HapMap
View on HapMap

Homologs in model organisms

No homologs found

CELSR2

1.
Identifier
rs646776
Cytogenetic Location
1p13.3
UCSC Genome Browser
View 1p13.3 on the UCSC genome browser

Gene details

HGNC symbol
CELSR2
Aliases
EGFL2; MEGF3; ADGRC2; CDHF10; Flamingo1 
Common name
cadherin EGF LAG seven-pass G-type receptor 2 
Description
The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]
OMIM
604265
Ensembl
ENSG00000143126
UniProt/Swiss-Prot
CELR2_HUMAN
Entrez Gene
1952
UniGene
57652
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Celsr2
Rattus norvegicus
Celsr2

FGFR2

1.
Identifier
rs2420946
Cytogenetic Location
10q26.13
UCSC Genome Browser
View 10q26.13 on the UCSC genome browser

Gene details

HGNC symbol
FGFR2
Aliases
BEK; JWS; BBDS; CEK3; CFD1; ECT1; KGFR; TK14; TK25; BFR-1; CD332; K-SAM 
Common name
fibroblast growth factor receptor 2 
Description
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
OMIM
176943
Ensembl
ENSG00000066468
UniProt/Swiss-Prot
A0A141AXF1_HUMAN
Entrez Gene
2263
UniGene
533683
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
fgfr2
Mus musculus
Fgfr2
Rattus norvegicus
Fgfr2

FTO

1.
Identifier
rs8050136
Cytogenetic Location
16q12.2
UCSC Genome Browser
View 16q12.2 on the UCSC genome browser

Gene details

HGNC symbol
FTO
Aliases
GDFD; ALKBH9; BMIQ14 
Common name
FTO, alpha-ketoglutarate dependent dioxygenase 
Description
This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]
OMIM
610966
Ensembl
ENSG00000140718
UniProt/Swiss-Prot
A0A1B0GTC5_HUMAN
Entrez Gene
79068
UniGene
528833
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
fto
Mus musculus
Fto
Rattus norvegicus
Fto

HNF1B

1.
Identifier
rs757210
Cytogenetic Location
17q12
UCSC Genome Browser
View 17q12 on the UCSC genome browser
2.
Identifier
rs4430796
Cytogenetic Location
17q12
UCSC Genome Browser
View 17q12 on the UCSC genome browser

Gene details

HGNC symbol
HNF1B
Aliases
FJHN; HNF2; LFB3; TCF2; HPC11; LF-B3; MODY5; TCF-2; VHNF1; HNF-1B; HNF1beta; HNF-1-beta 
Common name
HNF1 homeobox B 
Description
This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Other longevity studies of this gene
1
OMIM
189907
Ensembl
ENSG00000275410
UniProt/Swiss-Prot
A0A087WZC2_HUMAN
Entrez Gene
6928
UniGene
191144
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
hnf1ba
Mus musculus
Hnf1b
Rattus norvegicus
Hnf1b

HYKK

1.
Identifier
rs8034191
Cytogenetic Location
15q25.1
UCSC Genome Browser
View 15q25.1 on the UCSC genome browser

Gene details

HGNC symbol
HYKK
Aliases
AGPHD1 
Common name
hydroxylysine kinase 
Description
OMIM
614681
Ensembl
ENSG00000188266
UniProt/Swiss-Prot
HYKK_HUMAN
Entrez Gene
123688
UniGene
307962
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC559635
Drosophila melanogaster
CG31751-RA
Mus musculus
Agphd1
Rattus norvegicus
Agphd1

IGF2BP2

1.
Identifier
rs4402960
Cytogenetic Location
3q27.2
UCSC Genome Browser
View 3q27.2 on the UCSC genome browser

Gene details

HGNC symbol
IGF2BP2
Aliases
IMP2; IMP-2; VICKZ2 
Common name
insulin like growth factor 2 mRNA binding protein 2 
Description
This gene encodes a protein that binds the 5' UTR of insulin-like growth factor 2 (IGF2) mRNA and regulates its translation. It plays an important role in metabolism and variation in this gene is associated with susceptibility to diabetes. Alternative splicing and promoter usage results in multiple transcript variants. Related pseudogenes are found on several chromosomes. [provided by RefSeq, Sep 2016]
OMIM
608289
Ensembl
ENSG00000073792
UniProt/Swiss-Prot
B3FTN5_HUMAN
Entrez Gene
10644
UniGene
35354
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
igf2bp2a
Drosophila melanogaster
Imp
Mus musculus
Igf2bp2
Rattus norvegicus
Igf2bp2

KCNJ11

1.
Identifier
rs5219
Cytogenetic Location
11p15.1
UCSC Genome Browser
View 11p15.1 on the UCSC genome browser

Gene details

HGNC symbol
KCNJ11
Aliases
BIR; HHF2; PHHI; IKATP; TNDM3; KIR6.2; MODY13 
Common name
potassium voltage-gated channel subfamily J member 11 
Description
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
OMIM
600937
Ensembl
ENSG00000187486
UniProt/Swiss-Prot
B2RC52_HUMAN
Entrez Gene
3767
UniGene
248141
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
kcnj11
Mus musculus
Kcnj11
Rattus norvegicus
Kcnj11

LINC02143

1.
Identifier
rs6556756
Cytogenetic Location
5q34
UCSC Genome Browser
View 5q34 on the UCSC genome browser

Gene details

HGNC symbol
LINC02143
Aliases
 
Common name
long intergenic non-protein coding RNA 2143 
Description
OMIM
Ensembl
ENSG00000253236
UniProt/Swiss-Prot
Entrez Gene
101927835
UniGene
735171
HapMap
View on HapMap

Homologs in model organisms

No homologs found

MTHFD1L

1.
Identifier
rs6922269
Cytogenetic Location
6q25.1
UCSC Genome Browser
View 6q25.1 on the UCSC genome browser

Gene details

HGNC symbol
MTHFD1L
Aliases
FTHFSDC1; MTC1THFS; dJ292B18.2 
Common name
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 
Description
The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
OMIM
611427
Ensembl
ENSG00000120254
UniProt/Swiss-Prot
A0A087WVM4_HUMAN
Entrez Gene
25902
UniGene
591343
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_K07E3.4
Danio rerio
mthfd1l
Mus musculus
Mthfd1l
Rattus norvegicus
Mthfd1l
Saccharomyces cerevisiae
MIS1
Schizosaccharomyces pombe
ade9

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as MIS1

PPARG

1.
Identifier
rs1801282
Cytogenetic Location
3p25.2
UCSC Genome Browser
View 3p25.2 on the UCSC genome browser

Gene details

HGNC symbol
PPARG
Aliases
GLM1; CIMT1; NR1C3; PPARG1; PPARG2; PPARgamma 
Common name
peroxisome proliferator activated receptor gamma 
Description
This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
3
OMIM
601487
Ensembl
ENSG00000132170
UniProt/Swiss-Prot
D2KUA6_HUMAN
Entrez Gene
5468
UniGene
162646
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
pparg
Mus musculus
Pparg
Rattus norvegicus
Pparg

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Pparg
GenAge human genes
  • This gene is present as PPARG

SLC30A8

1.
Identifier
rs13266634
Cytogenetic Location
8q24.11
UCSC Genome Browser
View 8q24.11 on the UCSC genome browser

Gene details

HGNC symbol
SLC30A8
Aliases
ZNT8; ZnT-8 
Common name
solute carrier family 30 member 8 
Description
The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
OMIM
611145
Ensembl
ENSG00000164756
UniProt/Swiss-Prot
ZNT8_HUMAN
Entrez Gene
169026
UniGene
532270
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
slc30a8
Mus musculus
Slc30a8
Rattus norvegicus
Slc30a8

SMAD7

1.
Identifier
rs4939827
Cytogenetic Location
18q21.1
UCSC Genome Browser
View 18q21.1 on the UCSC genome browser

Gene details

HGNC symbol
SMAD7
Aliases
CRCS3; MADH7; MADH8 
Common name
SMAD family member 7 
Description
The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
OMIM
602932
Ensembl
ENSG00000101665
UniProt/Swiss-Prot
B3KYA8_HUMAN
Entrez Gene
4092
UniGene
465087
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
smad7
Mus musculus
Smad7
Rattus norvegicus
Smad7

TCF7L2

1.
Identifier
rs7903146
Cytogenetic Location
10q25.2-q25.3
UCSC Genome Browser
View 10q25.2-q25.3 on the UCSC genome browser

Gene details

HGNC symbol
TCF7L2
Aliases
TCF4; TCF-4 
Common name
transcription factor 7 like 2 
Description
This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
OMIM
602228
Ensembl
ENSG00000148737
UniProt/Swiss-Prot
A0A0A0MTL7_HUMAN
Entrez Gene
6934
UniGene
593995
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tcf7l2
Mus musculus
Tcf7l2
Rattus norvegicus
Tcf7l2

TMEFF2

1.
Identifier
rs10497721
Cytogenetic Location
2q32.3
UCSC Genome Browser
View 2q32.3 on the UCSC genome browser

Gene details

HGNC symbol
TMEFF2
Aliases
TR; HPP1; TPEF; TR-2; TENB2; CT120.2 
Common name
transmembrane protein with EGF like and two follistatin like domains 2 
Description
This gene encodes a member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene and a tumor suppressor depending on the cellular context and may regulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identified that arise from both an alternative splice variant and ectodomain shedding. Additionally, this gene has been found to be hypermethylated in multiple cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
OMIM
605734
Ensembl
ENSG00000144339
UniProt/Swiss-Prot
TEFF2_HUMAN
Entrez Gene
23671
UniGene
144513
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tmeff2b
Mus musculus
Tmeff2
Rattus norvegicus
Tmeff2

TOX3

1.
Identifier
rs8051542
Cytogenetic Location
16q12.1
UCSC Genome Browser
View 16q12.1 on the UCSC genome browser
2.
Identifier
rs12443621
Cytogenetic Location
16q12.1
UCSC Genome Browser
View 16q12.1 on the UCSC genome browser

Gene details

HGNC symbol
TOX3
Aliases
CAGF9; TNRC9 
Common name
TOX high mobility group box family member 3 
Description
The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]
Other longevity studies of this gene
1
OMIM
611416
Ensembl
ENSG00000103460
UniProt/Swiss-Prot
TOX3_HUMAN
Entrez Gene
27324
UniGene
132574
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tox3
Mus musculus
Tox3
Rattus norvegicus
Tox3

WFS1

1.
Identifier
rs10010131
Cytogenetic Location
4p16.1
UCSC Genome Browser
View 4p16.1 on the UCSC genome browser

Gene details

HGNC symbol
WFS1
Aliases
WFS; WFRS; WFSL; CTRCT41 
Common name
wolframin ER transmembrane glycoprotein 
Description
This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
OMIM
606201
Ensembl
ENSG00000109501
UniProt/Swiss-Prot
A0A0S2Z4V6_HUMAN
Entrez Gene
7466
UniGene
518602
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
wfs1b
Drosophila melanogaster
wfs1
Mus musculus
Wfs1
Rattus norvegicus
Wfs1

References

Beekman et al. (2010)

Other variants which are also part of this study