rs2308327
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;G) | 0.67x decreased risk for lung cancer | |
| (G;G) | 0.10x decreased risk for lung cancer |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 129766906 |
| Gene | MGMT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2308327 |
| dbSNP (classic) | rs2308327 |
| ClinGen | rs2308327 |
| ebi | rs2308327 |
| HLI | rs2308327 |
| Exac | rs2308327 |
| Gnomad | rs2308327 |
| Varsome | rs2308327 |
| LitVar | rs2308327 |
| Map | rs2308327 |
| PheGenI | rs2308327 |
| Biobank | rs2308327 |
| 1000 genomes | rs2308327 |
| hgdp | rs2308327 |
| ensembl | rs2308327 |
| geneview | rs2308327 |
| scholar | rs2308327 |
| rs2308327 | |
| pharmgkb | rs2308327 |
| gwascentral | rs2308327 |
| openSNP | rs2308327 |
| 23andMe | rs2308327 |
| SNPshot | rs2308327 |
| SNPdbe | rs2308327 |
| MSV3d | rs2308327 |
| GWAS Ctlg | rs2308327 |
| GMAF | 0.06474 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs2308327, also known as K178R, is a SNP in the MGMT gene. The more common allele, rs2308327(A), encodes a lysine (K) at codon 178, while the (G) allele encodes an arginine (R).
In a pooled analysis of 200+ lung cancer patients, the rs2308327(G) allele was reported to provide a protective effect against lung cancer, and furthermore, more (G) alleles meant more protection, particularly for smokers. The odds ratios reported (p=0.003) were 0.67 (CI: 0.45-1.01) for heterozygotes, and 0.10 (CI: 0.01-0.94) for rs2308327(G;G) homozygotes.[PMID 17957803]
In a study of 300+ colon cancer cases, rs2308327(G), in linkage disequilibrium with the previously reported MGMT Ile(143)Val rs2308321 SNP, had an inverse association with colorectal cancer risk (odds ratio 0.52, CI: 0.35-0.78, unadjusted p(trend) = 0.0003 for the additive model).[PMID 18268114]
[PMID 20938339] Temozolomide-induced severe myelosuppression: analysis of clinically associated polymorphisms in two patients
[PMID 16385451
] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
[PMID 16857995] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
[PMID 17119116] Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.
[PMID 17482892] Human variants of O6-alkylguanine-DNA alkyltransferase.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18990748] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.
[PMID 19124499] Association and interactions between DNA repair gene polymorphisms and adult glioma.
[PMID 24238921] Identification of methylguanine methyltransferase polymorphisms as genetic markers of individual susceptibility to therapy-related myeloid neoplasms
