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

Variants (3)

CYP2R1

1.
Identifier
rs2060793
Cytogenetic Location
11p15.2
UCSC Genome Browser
View 11p15.2 on the UCSC genome browser

Gene details

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

Homologs in model organisms

Caenorhabditis elegans
cyp-33b1
Danio rerio
cyp2r1
Mus musculus
Cyp2r1

GC

1.
Identifier
rs2282679
Cytogenetic Location
4q13.3
UCSC Genome Browser
View 4q13.3 on the UCSC genome browser

Gene details

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

Homologs in model organisms

Danio rerio
gc
Mus musculus
Gc
Rattus norvegicus
Gc

NADSYN1

1.
Identifier
rs3829251
Cytogenetic Location
11q13.4
UCSC Genome Browser
View 11q13.4 on the UCSC genome browser

Gene details

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

Homologs in model organisms

Caenorhabditis elegans
qns-1
Danio rerio
nadsyn1
Drosophila melanogaster
CG9940
Mus musculus
Nadsyn1
Rattus norvegicus
Nadsyn1
Saccharomyces cerevisiae
QNS1
Schizosaccharomyces pombe
SPCC553.02

In other databases

GenAge model organism genes
  • A homolog of this gene for Drosophila melanogaster is present as CG9940

References

Noordam et al. (2012)

Other variants which are also part of this study