LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
Italian
Study Design
4 SNPs (-800 G/A, -509 C/T, +869 T/C and +915 G/C) were analysed in 419 subjects from Northern and Central Italy, including 172 centenarians and 247 younger controls
Conclusions
Significant differences were found at the +915 site as far as the C allele and GC genotype were concerned, both of them being lower in centenarians than in young controls, but none of the other tested genetic variants was significantly different between centenarians and controls. Moreover, a particular haplotype combination (G -800/C -509/C 869/C 915) was notably lower in centenarians than in younger individuals.

Variants (4)

1.
Identifier
-800G/A
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
2.
Identifier
-509C/T
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
3.
Identifier
869T/C
In Other Studies (IDs)
206
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
4.
Identifier
915G/C
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

Carrieri et al. (2004)

Other variants which are also part of this study