LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
American (Caucasian)
Study Design
291 SNPs in 30 genes in the insulin/IGF1 signaling pathway were evaluated in 293 long-lived cases and 603 average-lifespan controls (all female), then replicated the candidate genes in two independent cohorts: 279 cases (47% male vs 797 controls(52.6% male) and 383 cases (25.2% male) vs 363 controls (42.7 % male)
Conclusions
Apart SNPs in FOXO3A and AKT1, no associations with longevity were significant after correcting for multiple testing, though SNPs in 7 other genes (FOXO1A, GHR, GHRHR, IGF1R, IGFBP3, IGFBP4, and PTEN) had suggestive significance

Variants (16)

No gene

1.
Identifier
rs3764451
Cytogenetic Location
2.
Identifier
rs1022427
Cytogenetic Location

GHR

1.
Identifier
rs12153009
Cytogenetic Location
5p13.1-p12
UCSC Genome Browser
View 5p13.1-p12 on the UCSC genome browser
2.
Identifier
rs2940923
Cytogenetic Location
5p13.1-p12
UCSC Genome Browser
View 5p13.1-p12 on the UCSC genome browser
3.
Identifier
rs2940935
Cytogenetic Location
5p13.1-p12
UCSC Genome Browser
View 5p13.1-p12 on the UCSC genome browser
4.
Identifier
rs4292454
In Other Studies (IDs)
2164
Cytogenetic Location
5p13.1-p12
UCSC Genome Browser
View 5p13.1-p12 on the UCSC genome browser
5.
Identifier
rs4866941
Cytogenetic Location
5p13.1-p12
UCSC Genome Browser
View 5p13.1-p12 on the UCSC genome browser
6.
Identifier
rs6883523
Cytogenetic Location
5p13.1-p12
UCSC Genome Browser
View 5p13.1-p12 on the UCSC genome browser
7.
Identifier
rs6887528
Cytogenetic Location
5p13.1-p12
UCSC Genome Browser
View 5p13.1-p12 on the UCSC genome browser

Gene details

HGNC symbol
GHR
Aliases
GHBP; GHIP 
Common name
growth hormone receptor 
Description
This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
Other longevity studies of this gene
8
OMIM
600946
Ensembl
ENSG00000112964
UniProt/Swiss-Prot
A0A087X0H5_HUMAN
Entrez Gene
2690
UniGene
125180
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ghra
Mus musculus
Ghr
Rattus norvegicus
Ghr

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Ghr
GenAge human genes
  • This gene is present as GHR
GenDR gene expression
  • A homolog of this gene for Mus musculus is present as Ghr
GenDR gene manipulations
  • A homolog of this gene for Mus musculus is present as Ghr

GHRHR

1.
Identifier
rs2228078
Cytogenetic Location
7p14.3
UCSC Genome Browser
View 7p14.3 on the UCSC genome browser

Gene details

HGNC symbol
GHRHR
Aliases
GRFR; GHRFR; IGHD1B 
Common name
growth hormone releasing hormone receptor 
Description
This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]
Other longevity studies of this gene
2
OMIM
139191
Ensembl
ENSG00000106128
UniProt/Swiss-Prot
A0A090N8Y6_HUMAN
Entrez Gene
2692
UniGene
767
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Ghrhr
Rattus norvegicus
Ghrhr

In other databases

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

IGF1R

1.
Identifier
rs2272037
Cytogenetic Location
15q26.3
UCSC Genome Browser
View 15q26.3 on the UCSC genome browser

Gene details

HGNC symbol
IGF1R
Aliases
IGFR; CD221; IGFIR; JTK13 
Common name
insulin like growth factor 1 receptor 
Description
This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Other longevity studies of this gene
10
OMIM
147370
Ensembl
ENSG00000140443
UniProt/Swiss-Prot
C9J5X1_HUMAN
Entrez Gene
3480
UniGene
643120
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
igf1rb
Mus musculus
Igf1r
Rattus norvegicus
Igf1r

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Igf1r
GenAge human genes
  • This gene is present as IGF1R

IGFBP3

1.
Identifier
rs6670
Cytogenetic Location
7p12.3
UCSC Genome Browser
View 7p12.3 on the UCSC genome browser

Gene details

HGNC symbol
IGFBP3
Aliases
IBP3; BP-53 
Common name
insulin like growth factor binding protein 3 
Description
This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
146732
Ensembl
ENSG00000146674
UniProt/Swiss-Prot
B3KPF0_HUMAN
Entrez Gene
3486
UniGene
450230
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
igfbp3
Mus musculus
Igfbp3
Rattus norvegicus
Igfbp3

In other databases

GenAge human genes
  • This gene is present as IGFBP3
CellAge
  • This gene is present as IGFBP3

IGFBP4

1.
Identifier
rs1009728
Cytogenetic Location
17q21.2
UCSC Genome Browser
View 17q21.2 on the UCSC genome browser

Gene details

HGNC symbol
IGFBP4
Aliases
BP-4; IBP4; IGFBP-4; HT29-IGFBP 
Common name
insulin like growth factor binding protein 4 
Description
This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]
OMIM
146733
Ensembl
ENSG00000141753
UniProt/Swiss-Prot
A0A024R1U8_HUMAN
Entrez Gene
3487
UniGene
462998
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Igfbp4
Rattus norvegicus
Igfbp4

IGFBP5

1.
Identifier
rs11575134
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
2.
Identifier
rs3770472
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser

Gene details

HGNC symbol
IGFBP5
Aliases
IBP5 
Common name
insulin like growth factor binding protein 5 
Description
Other longevity studies of this gene
1
OMIM
146734
Ensembl
ENSG00000115461
UniProt/Swiss-Prot
A0A024R433_HUMAN
Entrez Gene
3488
UniGene
607212
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
igfbp5a
Mus musculus
Igfbp5
Rattus norvegicus
Igfbp5

In other databases

CellAge
  • This gene is present as IGFBP5

LOC107985064

1.
Identifier
rs7214466
Cytogenetic Location
17q21.2
UCSC Genome Browser
View 17q21.2 on the UCSC genome browser

Gene details

HGNC symbol
LOC107985064
Aliases
 
Common name
uncharacterized LOC107985064 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
107985064
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

References

Pawlikowska et al. (2009)

Other variants which are also part of this study