DisGeNET - a database of gene-disease associations

Squamous cell carcinoma of the head and neck, C1168401

Variant: rs1217691063 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1217691063

MTHFR

0.040

GeneticVariation

BEFREE

We therefore conducted a case-control study of 853 individuals (322 head and neck cancer cases and 531 non-cancer controls) to investigate associations among MTHFR C677T and MTHFR A1298C polymorphisms and head and neck squamous cell carcinoma risk.

21556759

2012

dbSNP:

rs1217691063

MTHFR

0.040

GeneticVariation

BEFREE

In conclusion, our data provide evidence that folate metabolism genetic polymorphisms associated with variables as advanced age, male gender, tobacco and alcohol increase HNSCC development; CBS 844ins68 and MTHFR C677T polymorphisms are associated with less survival time and advanced stage tumours, respectively.

22051736

2012

dbSNP:

rs1217691063

MTHFR

0.040

GeneticVariation

BEFREE

No association between the MTHFR C677T polymorphism and head and neck squamous cell carcinoma was possible in this study.

21180947

2011

dbSNP:

rs1217691063

MTHFR

0.040

GeneticVariation

BEFREE

Functional polymorphisms in genes encoding one-carbon metabolism enzymes, such as methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MTR A2756G), methionine synthase reductase (MTRR A66G) and thymidylate synthase (TS), influence folate metabolism and thus might impact on HNSCC risk.

17596206

2007