LongevityMap variant
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).
- Identifier
- rs4803455
- In Other Studies (IDs)
- 2752
- 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
In other databases
- GenAge human genes
- This gene is present as TGFB1