LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Italian (Northern)
- Study Design
- The rs1333049 polymorphism was examined in a sample of 80 healthy centenarians (100-104y, 41 females), 218 patients younger than 40 who had experienced an acute myocardial infarction (22-39y, 53 females), and a control group of 258 healthy young volunteers (22–39y, 120 females) matched to acute myocardial infarction patients for age and sex
- Conclusions
- The frequency of the C allele of rs1333049 was significantly lower in centenarians compared to young controls, whereas acute myocardial infarction patients showed a higher frequency. After adjustment for gender and vascular risk factors, the C allele of rs1333049 remained significantly associated with a reduced likelihood to reach longevity: Odds ratio 0.64, 95% confidence interval (CI) 0.39-0.89, p < 0.01. The rs1333049 polymorphism may influence successful longevity, possibly by modulating the risk of age-related disorders.
- Identifier
- rs1333049
- In Other Studies (IDs)
- 387 391 855
- Cytogenetic Location
- 17p13.1
- UCSC Genome Browser
- View 17p13.1 on the UCSC genome browser
Gene details
- HGNC symbol
- TP53
- Aliases
- P53; BCC7; LFS1; TRP53
- Common name
- tumor protein p53
- Description
- This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
- Other longevity studies of this gene
- 47
- OMIM
- 191170
- Ensembl
- ENSG00000141510
- UniProt/Swiss-Prot
- A0A087WT22_HUMAN
- Entrez Gene
- 7157
- UniGene
- 437460
- HapMap
- View on HapMap