LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Danish
- Study Design
- Participants (n = 9,219) of the Copenhagen City Heart Study were genotyped for the p53 Arg72Pro polymorphism. Then the morbidity of 6 subtypes of cancer and mortality were assessed for each genotype.
- Conclusions
- The risk of hematologic cancer increased 2-fold in Arg/Pro heterozygotes vs. Arg/Arg homozygotes (p < 0.001), with a similar trend in Pro/Pro homozygotes. The overall 12-year survival after blood sampling was increased in Arg/Pro heterozygotes with 3% (p = 0.003) and in Pro/Pro homozygotes with 6% (p = 0.002) vs. Arg/Arg homozygotes. The cumulative 5-year mortality after a cancer diagnosis was reduced in Arg/Pro heterozygotes and Pro/Pro homozygotes vs. Arg/Arg homozygotes by 9% (p = 0.003) and 13% (p = 0.03). These results suggest a better prognosis in Arg/Pro heterozygotes and Pro/Pro homozygotes vs. Arg/Arg homozygotes after the diagnosis of cancer or other life-threatening disease.
- Identifier
- rs1042522
- In Other Studies (IDs)
- 285 1979
- 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