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rs4444903

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 average
(A;G) 2 3.5x risk of hep-cancer in cirrhosis patients; higher glioma risk
(G;G) 2.1 3.5x risk of hep-cancer in cirrhosis patients; higher glioma risk; 3x higher gallbladder cancer risk in females
ReferenceGRCh38 38.1/141
Chromosome4
Position109912954
GeneEGF
is asnp
is mentioned by
dbSNPrs4444903
ebirs4444903
HLIrs4444903
Exacrs4444903
Varsomers4444903
Maprs4444903
PheGenIrs4444903
hapmaprs4444903
1000 genomesrs4444903
hgdprs4444903
ensemblrs4444903
gopubmedrs4444903
geneviewrs4444903
scholarrs4444903
googlers4444903
pharmgkbrs4444903
gwascentralrs4444903
openSNPrs4444903
23andMers4444903
23andMe allrs4444903
SNP Nexus

SNPshotrs4444903
SNPdbers4444903
MSV3drs4444903
GWAS Ctlgrs4444903
GMAF0.4183
Max Magnitude2.1
rs4444903 is a SNP, also known as +61, located in the promoter region of the epidermal growth factor EGF gene that influences the amount of EGF produced. The rs4444903(G) allele appears to produce higher amounts of EGF than the (A) allele.

A study of 2 Caucasian populations of patients with alcoholic cirrhosis indicates that, for these patients, the presence of the risk allele rs4444903(G) increases the chances of developing hepatocellular carcinoma (liver cancer). After adjusting for age, sex, race, etiology, and severity of cirrhosis the number of (G) copies led to an odds ratio for either (G;G) or (A;G) genotypes versus the (A;A) genotype of 3.49 (CI: 1.29-9.44, p=.01). [PMID 18167406]

In another study, analysis of 197 glioma patients showed that the rs4444903(G) allele conferred higher risks for gliomas (odds ratio 1.32, CI: 1.04-1.67), glioblastomas (OR, 1.47, CI: 1.02-2.10), and oligodendrogliomas (OR, 1.55, CI: 1.07-2.23). In general, the risk was about the same for a carrier or one or two (G) alleles, however, no significant association was observed with patients' overall survival.[PMID 17473192]

A study of 126 Indian gallbladder cancer patients concluded that the rs4444903(G;G) genotype was at increased risk, but only in females (odds ratio 3.45, CI: 1.52-7.82, p = 0.003).[PMID 18571008]

effects lots of no known risk pmids15373782 15729146 16214932 16214933 16214934 16214935 16217151 16217152 16217153

[PMID 19010984OA-icon.png] rs4444903, rs2298991, rs7692976 and rs4533485 significantly interacted with gender for acute respiratory distress syndrome risk.

popular in pubmed


[PMID 19319135OA-icon.png] Common genetic variability in ESR1 and EGF in relation to endometrial cancer risk and survival.

OMIM114550
DescHEPATOCELLULAR CARCINOMA
Variant
Relatedalso
OMIM131530
DescEPIDERMAL GROWTH FACTOR; EGF
Variant
Relatedalso
[PMID 20487573OA-icon.png] Association between EGF +61 G/A and glioma risk in a Chinese population


[PMID 21567271] Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism in EGF gene on the risk of sporadic colorectal cancer in Iranian population


[PMID 22122913] Association between the epidermal growth factor rs4444903 G/G genotype and advanced fibrosis at a young age in chronic hepatitis C


[PMID 22829952OA-icon.png] A Functional +61G/A Polymorphism in Epidermal Growth Factor Is Associated with Glioma Risk among Asians

[PMID 15663953] Epidermal growth factor gene polymorphism is different between schizophrenia and lung cancer patients in Korean population.

[PMID 17204151OA-icon.png] VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis.

[PMID 18676680OA-icon.png] Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.

[PMID 19372140OA-icon.png] EGFR pathway polymorphisms and bladder cancer susceptibility and prognosis.

[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.

[PMID 19822020OA-icon.png] Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study.

[PMID 20203692] A functional epidermal growth factor (EGF) polymorphism, EGF serum levels and renal cell carcinoma risk in a Chinese population.

[PMID 21440548OA-icon.png] A functional polymorphism in the epidermal growth factor gene is associated with risk for hepatocellular carcinoma.

[PMID 22236006OA-icon.png] Carriage of the EGF rs4444903 A>G functional polymorphism associates with disease progression in chronic HBV infection.


[PMID 23403233] EGF +61A>G polymorphism and gastrointestinal cancer risk: A HuGE review and meta-analysis


[PMID 24363559OA-icon.png] A functional polymorphism in the epidermal growth factor gene predicts hepatocellular carcinoma risk in Japanese hepatitis C patients


[PMID 22848662OA-icon.png] Polymorphisms on 8q24 are associated with lung cancer risk and survival in Han Chinese.


[PMID 23201894] Lack of association between EGF +61A>G polymorphism and melanoma susceptibility in Caucasians: a HuGE review and meta-analysis.


[PMID 23645212] Association between epidermal growth factor gene rs4444903 polymorphism and risk of glioma.


[PMID 23790025OA-icon.png] Association of epidermal growth factor and epidermal growth factor receptor polymorphisms with the risk of hepatitis B virus-related hepatocellular carcinoma in the population of North China.


[PMID 24754849] Polymorphism in the epidermal growth factor gene is associated with pre-eclampsia and low birthweight


[PMID 24834259OA-icon.png] The effect of 5'untranslated region polymorphism in EGF gene, rs4444903, on colorectal cancer


[PMID 24558090] Genetic markers of bevacizumab-induced hypertension


[PMID 24945674OA-icon.png] Genetic variants of EGF and VEGF predict prognosis of patients with advanced esophageal squamous cell carcinoma


[PMID 25927412OA-icon.png] Association between epidermal growth factor gene +61A/G polymorphism and the risk of hepatocellular carcinoma: a meta-analysis based on 16 studies


ClinVar
Risk rs4444903(G;G)
Alt rs4444903(G;G)
Reference rs4444903(A;A)
Significance Drug-response
Disease cetuximab response - Efficacy
Variation info
Gene EGF
CLNDBN cetuximab response - Efficacy
Reversed 0
HGVS NC_000004.11:g.110834110A>G
CLNSRC PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000211237.1,



[PMID 27755861] Association of EGF, IGFBP-3 and TP53 Gene Polymorphisms with Major Depressive Disorder in Slovak Population.