LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Italian (Salerno)
- Study Design
- The association of ESR1 (PvuII and XbaI) and CYP19 (rs4646) polymorphisms with longevity was examined in a sample of 258 individuals (mean age = 83.1 ± 5.7 years). Based on mortality data over 9 years, the sample was divided into two groups of participants surviving more than 90 years or not.
- Conclusions
- ESR1 PP (odds ratio = 2.2) and CYP19 genotypes carrying the T allele (odds ratio = 1.9) were significantly associated with longevity (survival to age more than 90 years)
- Identifier
- rs4646
- Cytogenetic Location
- 15q21.2
- UCSC Genome Browser
- View 15q21.2 on the UCSC genome browser
Gene details
- HGNC symbol
- CYP19A1
- Aliases
- ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX; P-450AROM
- Common name
- cytochrome P450 family 19 subfamily A member 1
- Description
- This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
- OMIM
- 107910
- Ensembl
- ENSG00000137869
- UniProt/Swiss-Prot
- A0A024R5S8_HUMAN
- Entrez Gene
- 1588
- UniGene
- 260074
- HapMap
- View on HapMap