rs12696304
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | |
| (C;G) | 2 | Prone to aging faster, at least in European populations? |
| (G;G) | 2 | Prone to aging faster, at least in European populations? |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 169763483 |
| Gene | TERC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12696304 |
| dbSNP (classic) | rs12696304 |
| ClinGen | rs12696304 |
| ebi | rs12696304 |
| HLI | rs12696304 |
| Exac | rs12696304 |
| Gnomad | rs12696304 |
| Varsome | rs12696304 |
| LitVar | rs12696304 |
| Map | rs12696304 |
| PheGenI | rs12696304 |
| Biobank | rs12696304 |
| 1000 genomes | rs12696304 |
| hgdp | rs12696304 |
| ensembl | rs12696304 |
| geneview | rs12696304 |
| scholar | rs12696304 |
| rs12696304 | |
| pharmgkb | rs12696304 |
| gwascentral | rs12696304 |
| openSNP | rs12696304 |
| 23andMe | rs12696304 |
| SNPshot | rs12696304 |
| SNPdbe | rs12696304 |
| MSV3d | rs12696304 |
| GWAS Ctlg | rs12696304 |
| GMAF | 0.4683 |
| Max Magnitude | 2 |
| ? | (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 20139977 ]
|
| 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 |
| GWAS snp | |
|---|---|
| PMID | [PMID 21573004]
|
| 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 20885959] A Common Variant in the Telomerase RNA Component Is Associated with Short Telomere Length
[PMID 20421499] Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.
[PMID 21304559] Common variants near TERC are associated with leukocyte telomere length in the Chinese Han population.
[PMID 22136229] 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 24349443] Association of TERC and OBFC1 Haplotypes with Mean Leukocyte Telomere Length and Risk for Coronary Heart Disease
[PMID 26720590] Associations of TERC Single Nucleotide Polymorphisms with Human Leukocyte Telomere Length and the Risk of Type 2 Diabetes Mellitus.
