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