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 (P < 0.05).
Variants (68)
- Gene summary:
- ACE (11)
- APOC3 (3)
- C1orf167 (2)
- CLCN6 (1)
- HFE (6)
- HSPA1A (1)
- HSPA1L (4)
- IL6R (8)
- MTHFR (10)
- SIRT1 (5)
- SIRT3 (10)
- TGFB1 (7)
ACE
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
APOC3
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
In other databases
- GenAge human genes
- This gene is present as APOC3
C1orf167
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
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
HFE
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
HSPA1A
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
HSPA1L
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
IL6R
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
MTHFR
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
SIRT1
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
SIRT3
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
In other databases
TGFB1
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
In other databases
- GenAge human genes
- This gene is present as TGFB1