LongevityMap variant

Entry Details

Longevity Association: Significant
Population: Italian (Southern)
Study Design: The variability of the three human nitric oxide synthases (NOS1, NOS2, NOS3) was studied in a large sample (763 subjects, age range 19–107 years, median age 81 years). The sample analyzed included 417 females and 346 males.
Conclusions: After adjusting for sex and multiple testing, NOS1 rs1879417 SNP was found to be significantly associated with the longevity phenotype. The additive model for rs1879417 resulted to be the most likely genetic model, in which the presence of the relevant allele (allele C for rs1879417) decreases the probability to attain longevity.

HGNC symbol: NOS1
Aliases: NOS; bNOS; nNOS; IHPS1; N-NOS; NC-NOS
Common name: nitric oxide synthase 1
Description: The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]
Other longevity studies of this gene: 1
OMIM: 163731
Ensembl: ENSG00000089250
UniProt/Swiss-Prot: A0PJJ7_HUMAN
Entrez Gene: 4842
UniGene: 654410
HapMap: View on HapMap

Montesanto et al. (2013)