Rs12696304

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Orientationplus
is asnp
is mentioned by
dbSNPrs12696304
PheGenIrs12696304
nextbiors12696304
hapmaprs12696304
1000 genomesrs12696304
hgdprs12696304
ensemblrs12696304
gopubmedrs12696304
geneviewrs12696304
scholarrs12696304
googlers12696304
pharmgkbrs12696304
gwascentralrs12696304
openSNPrs12696304
23andMers12696304
23andMe allrs12696304
SNP Nexus

SNPshotrs12696304
SNPdbers12696304
MSV3drs12696304
GeneTERC
Chromosome3
Orientationplus
GMAF0.4683
Position169763483
ReferenceGRCh38 38.1/141
Max Magnitude1
Geno Mag Summary
(C;C) 0
(C;G) 1 Prone to aging faster, at least in European populations?
(G;G) 1 Prone to aging faster, at least in European populations?
? (C;C) (C;G) (G;G) 28
rs12696304 is a SNP near the TERC gene, which encodes the telomerase RNA component.

A genome-wide association study of mean leukocyte telomere length in 2,917 individuals, with follow-up replication in 9,492 individuals, found that each rs12696304(G) allele was significantly (p = 3.72 × 10?14) associated with a ~75-base-pair reduction in mean telomere length, equivalent to ~3.6 years of age-related telomere-length attrition.10.1038/ng.532

In other words, in terms of biological aging, this report implies that individuals carrying one rs12696304(G) allele will appear 3.6 years "older", and those with two such alleles 7.2 years "older", than rs12696304(C;C) individuals, at least in terms of telomere length. Telomere shortening can lead to premature aging, in terms of increased risk for age-associated diseases such as heart disease, and at least some forms of cancer, and therefore also reduced longevity.

Note that all individuals in this study were of European descent, so it is unknown if this finding will hold across different ethnicities. Furthermore, the authors estimate that their finding leaves 99% of the variation in aging to be explained by other factors.

see also: NHS News Bulletin

GWAS snp
PMID [PMID 20139977OA-icon.png]
Trait Telomere length
Title Common variants near TERC are associated with mean telomere length
Risk Allele G
P-val 4E-14
Odds Ratio 0.11 [0.08-0.14] unit decrease
OMIM609113
Desc
Variant
Relatedalso
GWAS snp
PMID [PMID 21573004OA-icon.png]
Trait
Title Genome-wide association study of relative telomere length.
Risk Allele G
P-val 2E-14
Odds Ratio 0.0300 [0.02-0.04] unit decrease


[PMID 20885959OA-icon.png] A Common Variant in the Telomerase RNA Component Is Associated with Short Telomere Length


[PMID 20421499OA-icon.png] Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.


[PMID 21304559OA-icon.png] Common variants near TERC are associated with leukocyte telomere length in the Chinese Han population.


[PMID 22136229OA-icon.png] Genetic variation in TERT and TERC and human leukocyte telomere length and longevity: a cross-sectional and longitudinal analysis.


[PMID 22390679] A common variant near TERC and telomere length are associated with susceptibility to childhood acute lymphoblastic leukemia in Chinese.


[PMID 22539396] hTERT cancer risk genotypes are associated with telomere length.


[PMID 24349443OA-icon.png] Association of TERC and OBFC1 Haplotypes with Mean Leukocyte Telomere Length and Risk for Coronary Heart Disease