LongevityMap variant group

Entry Details

Longevity Association: Non-significant
Population: Dutch
Study Design: Single nucleotide polymorphisms (SNPs) associated with vitamin D levels were studied in the offspring (n = 1038) of nonagenarians who had at least one nonagenarian sibling. The offsprings' partners (n = 461) were used as controls.
Conclusions: No SNP was found to be associated with longevity after correcting for multiple testing, though the offspring had a slightly lower frequency of a genetic variant (rs2060793) in CYP2R1

HGNC symbol: CYP2R1
Aliases
Common name: cytochrome P450 family 2 subfamily R 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 enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]
OMIM: 608713
Ensembl: ENSG00000186104
UniProt/Swiss-Prot: CP2R1_HUMAN
Entrez Gene: 120227
UniGene: 371427
HapMap: View on HapMap

HGNC symbol: GC
Aliases: DBP; GRD3; VDBG; VDBP; GcMAF; DBP/GC; Gc-MAF; HEL-S-51
Common name: GC, vitamin D binding protein
Description: The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
OMIM: 139200
Ensembl: ENSG00000145321
UniProt/Swiss-Prot: VTDB_HUMAN
Entrez Gene: 2638
UniGene: 418497
HapMap: View on HapMap

HGNC symbol: NADSYN1
Aliases
Common name: NAD synthetase 1
Description: Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004]
OMIM: 608285
Ensembl: ENSG00000172890
UniProt/Swiss-Prot: NADE_HUMAN
Entrez Gene: 55191
UniGene: 556986
HapMap: View on HapMap

GenAge model organism genes

Noordam et al. (2012)