LongevityMap Gene

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]
Cytogenetic Location: 19q13.2
UCSC Genome Browser: View 19q13.2 on the UCSC genome browser
OMIM: 190180
Ensembl: ENSG00000105329
UniProt/Swiss-Prot: TGFB1_HUMAN
Entrez Gene: 7040
UniGene: 645227
1000 Genomes: 1000 Genomes

Homologs in model organisms

Danio rerio: tgfb1b
Danio rerio: tgfb1a
Drosophila melanogaster: daw
Mus musculus: Tgfb1
Rattus norvegicus: Tgfb1

In other databases

GenAge model organism genes

A homolog of this gene for Drosophila melanogaster is present as daw

GenAge human genes

This gene is present as TGFB1

Studies (5)

Significant/Non-significant: 1/4

Study 1

Longevity Association

Non-significant

Population

Study Design

Codons 10 (T/C) and 25 (G/C) SNPs were examined in 17 unrelated elderly (age 65-90 years; 6 males and 11 females), 23 family members (age 18-57 years; 9 males and 14 females), and a control group with 105 randomly selected, matched for geographical distribution healthy controls aged 25-53 years (40 male and 65 female)

Conclusions

No significant differences relative to longevity were found

Indentifier

Reference

Study 2

Longevity Association

Non-significant

Population

Study Design

+869 C/T SNP was evaluated with age or gender in 500 Japanese persons (mean age: 56.7 years old, range: 19-100)

Conclusions

The +869 C/T polymorphism was not found to be associated with longevity

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Reference

Study 3

Longevity Association

Population

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.

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Reference

Study 4

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).
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Study 5

Longevity Association: Non-significant
Population: Italian (Southern)
Study Design: A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
Conclusions: After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
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