LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
Danish, German, Dutch
Study Design
102 SNPs from 16 longevity candidate genes were examined in Danish. 1089 individuals (ages 92.2-93.8, mean age 93.2, 71.3 female) and 736 middle-aged controls (46-55 y, mean age 50.6, 49.6% female) were involved in this case-control study. Then the results were replicated in a German cohort of 1613 individuals (95-110 y, 73.2% female) and 1104 middle-aged controls (mean age 67.2, SD 4.07, 74.3% female). A 11 years study was introduced in Danish cohort to identify the SNPs associated with longevity, then the results were verified in Dutch longitudinal cohort.
Conclusions
After correcting for multiple testing, no SNPs were significantly associated with longevity, except in APOE and CETP. rs4343 (ACE) was nominally significantly associated with longevity (Pā€‰<ā€‰0.05).

Variants (68)

ACE

1.
Identifier
rs1055086
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser
2.
Identifier
rs1800764
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser
3.
Identifier
rs4291
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser
4.
Identifier
rs4295
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser
5.
Identifier
rs4309
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser
6.
Identifier
rs4311
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser
7.
Identifier
rs4331
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser
8.
Identifier
rs4335
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser
9.
Identifier
rs4343
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser
10.
Identifier
rs4344
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser
11.
Identifier
rs4351
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser

Gene details

HGNC symbol
ACE
Aliases
DCP; ACE1; DCP1; CD143 
Common name
angiotensin I converting enzyme 
Description
This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010]
Other longevity studies of this gene
32
OMIM
106180
Ensembl
ENSG00000159640
UniProt/Swiss-Prot
ACE_HUMAN
Entrez Gene
1636
UniGene
298469
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ace
Mus musculus
Ace
Rattus norvegicus
Ace

APOC3

1.
Identifier
rs2849174
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser
2.
Identifier
rs5128
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser
3.
Identifier
rs595049
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser

Gene details

HGNC symbol
APOC3
Aliases
HALP2; APOCIII 
Common name
apolipoprotein C3 
Description
Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels induces the development of hypertriglyceridemia. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
7
OMIM
107720
Ensembl
ENSG00000110245
UniProt/Swiss-Prot
A3KPE2_HUMAN
Entrez Gene
345
UniGene
73849
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Apoc3
Rattus norvegicus
Apoc3

In other databases

GenAge human genes
  • This gene is present as APOC3

C1orf167

1.
Identifier
rs3737967
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
2.
Identifier
rs4846048
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser

Gene details

HGNC symbol
C1orf167
Aliases
 
Common name
chromosome 1 open reading frame 167 
Description
Other longevity studies of this gene
1
OMIM
Ensembl
ENSG00000215910
UniProt/Swiss-Prot
A2VCK6_HUMAN
Entrez Gene
284498
UniGene
585415
HapMap
View on HapMap

Homologs in model organisms

No homologs found

CLCN6

1.
Identifier
rs3737964
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser

Gene details

HGNC symbol
CLCN6
Aliases
CLC-6 
Common name
chloride voltage-gated channel 6 
Description
This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]
OMIM
602726
Ensembl
ENSG00000011021
UniProt/Swiss-Prot
CLCN6_HUMAN
Entrez Gene
1185
UniGene
193043
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
clcn6
Mus musculus
Clcn6
Rattus norvegicus
Clcn6

HFE

1.
Identifier
rs1572982
Cytogenetic Location
6p22.2
UCSC Genome Browser
View 6p22.2 on the UCSC genome browser
2.
Identifier
rs1800708
Cytogenetic Location
6p22.2
UCSC Genome Browser
View 6p22.2 on the UCSC genome browser
3.
Identifier
rs2858993
Cytogenetic Location
6p22.2
UCSC Genome Browser
View 6p22.2 on the UCSC genome browser
4.
Identifier
rs707889
Cytogenetic Location
6p22.2
UCSC Genome Browser
View 6p22.2 on the UCSC genome browser
5.
Identifier
rs9295687
Cytogenetic Location
6p22.2
UCSC Genome Browser
View 6p22.2 on the UCSC genome browser
6.
Identifier
rs9379825
Cytogenetic Location
6p22.2
UCSC Genome Browser
View 6p22.2 on the UCSC genome browser

Gene details

HGNC symbol
HFE
Aliases
HH; HFE1; HLA-H; MVCD7; TFQTL2 
Common name
hemochromatosis 
Description
The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
12
OMIM
613609
Ensembl
ENSG00000010704
UniProt/Swiss-Prot
B4DV50_HUMAN
Entrez Gene
3077
UniGene
233325
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC556263
Mus musculus
Hfe
Rattus norvegicus
Hfe

HSPA1A

1.
Identifier
rs1043618
In Other Studies (IDs)
450 1875
Cytogenetic Location
6p21.33
UCSC Genome Browser
View 6p21.33 on the UCSC genome browser

Gene details

HGNC symbol
HSPA1A
Aliases
HSP72; HSPA1; HSP70I; HSP70-1; HSP70.1; HSP70-1A; HEL-S-103 
Common name
heat shock protein family A (Hsp70) member 1A 
Description
This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
7
OMIM
140550
Ensembl
ENSG00000204389
UniProt/Swiss-Prot
A8K5I0_HUMAN
Entrez Gene
3303
UniGene
274402
HapMap
View on HapMap

Homologs in model organisms

No homologs found

In other databases

GenAge human genes
  • This gene is present as HSPA1A

HSPA1L

1.
Identifier
rs2075799
Cytogenetic Location
6p21.33
UCSC Genome Browser
View 6p21.33 on the UCSC genome browser
2.
Identifier
rs2075800
Cytogenetic Location
6p21.33
UCSC Genome Browser
View 6p21.33 on the UCSC genome browser
3.
Identifier
rs2227955
Cytogenetic Location
6p21.33
UCSC Genome Browser
View 6p21.33 on the UCSC genome browser
4.
Identifier
rs2227956
Cytogenetic Location
6p21.33
UCSC Genome Browser
View 6p21.33 on the UCSC genome browser

Gene details

HGNC symbol
HSPA1L
Aliases
HSP70T; hum70t; HSP70-1L; HSP70-HOM 
Common name
heat shock protein family A (Hsp70) member 1 like 
Description
This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
8
OMIM
140559
Ensembl
ENSG00000204390
UniProt/Swiss-Prot
HS71L_HUMAN
Entrez Gene
3305
UniGene
690634
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Hspa1l
Rattus norvegicus
Hspa1l

IL6R

1.
Identifier
rs12083537
Cytogenetic Location
1q21.3
UCSC Genome Browser
View 1q21.3 on the UCSC genome browser
2.
Identifier
rs2229238
In Other Studies (IDs)
2073
Cytogenetic Location
1q21.3
UCSC Genome Browser
View 1q21.3 on the UCSC genome browser
3.
Identifier
rs4075015
Cytogenetic Location
1q21.3
UCSC Genome Browser
View 1q21.3 on the UCSC genome browser
4.
Identifier
rs4240872
Cytogenetic Location
1q21.3
UCSC Genome Browser
View 1q21.3 on the UCSC genome browser
5.
Identifier
rs4601580
Cytogenetic Location
1q21.3
UCSC Genome Browser
View 1q21.3 on the UCSC genome browser
6.
Identifier
rs4845626
Cytogenetic Location
1q21.3
UCSC Genome Browser
View 1q21.3 on the UCSC genome browser
7.
Identifier
rs6684439
Cytogenetic Location
1q21.3
UCSC Genome Browser
View 1q21.3 on the UCSC genome browser
8.
Identifier
rs6689393
Cytogenetic Location
1q21.3
UCSC Genome Browser
View 1q21.3 on the UCSC genome browser

Gene details

HGNC symbol
IL6R
Aliases
IL6Q; gp80; CD126; IL6RA; IL6RQ; IL-6RA; IL-6R-1 
Common name
interleukin 6 receptor 
Description
This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]
Other longevity studies of this gene
14
OMIM
147880
Ensembl
ENSG00000160712
UniProt/Swiss-Prot
A0A087WTB5_HUMAN
Entrez Gene
3570
UniGene
135087
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
il6r
Mus musculus
Il6ra
Rattus norvegicus
Il6r

MTHFR

1.
Identifier
rs11121832
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
2.
Identifier
rs12121543
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
3.
Identifier
rs1476413
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
4.
Identifier
rs17037390
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
5.
Identifier
rs17421462
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
6.
Identifier
rs1801131
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
7.
Identifier
rs1801133
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
8.
Identifier
rs2066471
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
9.
Identifier
rs4846052
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
10.
Identifier
rs9651118
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser

Gene details

HGNC symbol
MTHFR
Aliases
 
Common name
methylenetetrahydrofolate reductase 
Description
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
Other longevity studies of this gene
16
OMIM
607093
Ensembl
ENSG00000177000
UniProt/Swiss-Prot
MTHR_HUMAN
Entrez Gene
4524
UniGene
214142
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
C06A8.1
Danio rerio
mthfr
Mus musculus
Mthfr
Rattus norvegicus
Mthfr
Saccharomyces cerevisiae
MET13
Schizosaccharomyces pombe
met9

SIRT1

1.
Identifier
rs12778366
In Other Studies (IDs)
379 2249
Cytogenetic Location
10q21.3
UCSC Genome Browser
View 10q21.3 on the UCSC genome browser
2.
Identifier
rs2236319
Cytogenetic Location
10q21.3
UCSC Genome Browser
View 10q21.3 on the UCSC genome browser
3.
Identifier
rs2273773
In Other Studies (IDs)
2123 2212
Cytogenetic Location
10q21.3
UCSC Genome Browser
View 10q21.3 on the UCSC genome browser
4.
Identifier
rs3758391
In Other Studies (IDs)
2038 2252
Cytogenetic Location
10q21.3
UCSC Genome Browser
View 10q21.3 on the UCSC genome browser
5.
Identifier
rs3818291
Cytogenetic Location
10q21.3
UCSC Genome Browser
View 10q21.3 on the UCSC genome browser

Gene details

HGNC symbol
SIRT1
Aliases
SIR2; SIR2L1; SIR2alpha 
Common name
sirtuin 1 
Description
This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
Other longevity studies of this gene
33
OMIM
604479
Ensembl
ENSG00000096717
UniProt/Swiss-Prot
A0A024QZQ1_HUMAN
Entrez Gene
23411
UniGene
369779
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
sir-2.1
Danio rerio
sirt1
Drosophila melanogaster
Sir2
Mus musculus
Sirt1
Rattus norvegicus
Sirt1

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as sir-2.1
  • A homolog of this gene for Drosophila melanogaster is present as Sir2
  • A homolog of this gene for Mus musculus is present as Sirt1
GenAge human genes
  • This gene is present as SIRT1
GenDR gene manipulations
  • A homolog of this gene for Drosophila melanogaster is present as Sir2
  • A homolog of this gene for Mus musculus is present as Sirt1
  • A homolog of this gene for Caenorhabditis elegans is present as sir-2.1
CellAge
  • This gene is present as SIRT1

SIRT3

1.
Identifier
rs1023430
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
2.
Identifier
rs11246009
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
3.
Identifier
rs11246020
In Other Studies (IDs)
1193
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
4.
Identifier
rs12226697
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
5.
Identifier
rs3782116
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
6.
Identifier
rs3825075
In Other Studies (IDs)
388 2125
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
7.
Identifier
rs4758633
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
8.
Identifier
rs535716
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
9.
Identifier
rs536715
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
10.
Identifier
rs7104764
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser

Gene details

HGNC symbol
SIRT3
Aliases
SIR2L3 
Common name
sirtuin 3 
Description
This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Two alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
24
OMIM
604481
Ensembl
ENSG00000142082
UniProt/Swiss-Prot
SIR3_HUMAN
Entrez Gene
23410
UniGene
716456
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
sirt3
Mus musculus
Sirt3
Rattus norvegicus
Sirt3

In other databases

GenAge human genes
  • This gene is present as SIRT3

TGFB1

1.
Identifier
rs11466321
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
2.
Identifier
rs11466338
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
3.
Identifier
rs11466359
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
4.
Identifier
rs1800469
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
5.
Identifier
rs4803455
In Other Studies (IDs)
2752
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
6.
Identifier
rs8105161
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
7.
Identifier
rs8110090
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser

Gene details

HGNC symbol
TGFB1
Aliases
CED; LAP; DPD1; TGFB; TGFbeta 
Common name
transforming growth factor beta 1 
Description
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]
Other longevity studies of this gene
17
OMIM
190180
Ensembl
ENSG00000105329
UniProt/Swiss-Prot
TGFB1_HUMAN
Entrez Gene
7040
UniGene
645227
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Tgfb1
Rattus norvegicus
Tgfb1

In other databases

GenAge human genes
  • This gene is present as TGFB1

References

Soerensen et al. (2013)

Other variants which are also part of this study