rs4444903

This is a regulatory region variant variant in the EGF gene.

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GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

platelet count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.04
p 4.0e-34
N 583,692
Major Consortium StudyLarge GWAS
multi-ancestry

mean corpuscular hemoglobin concentration

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.02
p 2.0e-17
N 407,343
Major Consortium StudyLarge GWAS
European

lymphocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.02
p 1.0e-14
N 364,272
Major Consortium StudyLarge GWAS
multi-ancestry

leukocyte quantity

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.02
p 8.0e-12
N 381,267
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★★★☆
5 submitters3 publications

Cholangiocarcinoma; Renal hypomagnesemia 4

View on ClinVar →
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Research that mentions this SNP (4)

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Genetic variants at chromosome 8q24, colorectal epithelial cell proliferation, and risk for incident, sporadic colorectal adenomas
Meta-analysisN=170,737Baiyu Yang et al.(2014)· Molecular Carcinogenesis

A meta-analysis of 78 case-control studies (73,996 cases, 96,741 controls) found that the rs6983267 polymorphism on chromosome 8q24 was significantly associated with increased cancer risk across all genetic models (dominant: OR=1.19, 95% CI=1.13-1.26; recessive: OR=1.19, 95% CI=1.14-1.25; homozygous: OR=1.31, 95% CI=1.23-1.40). Stratified analyses showed significant associations for colorectal cancer, prostate cancer, and thyroid cancer in Caucasians, and lung cancer in Asians.

Traits studied:Breast cancerColorectal cancerGastric cancerLung cancerOverall cancerProstate cancerThyroid cancer
PubMedDOIMetascience Observatory
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No evidence that associations of incident, sporadic colorectal adenoma with its major modifiable risk factors differ by chromosome 8q24 region rs6983267 genotype
Meta-analysisN=170,737Baiyu Yang et al.(2014)· Molecular Carcinogenesis

Meta-analysis of 78 case-control studies (73,996 cases, 96,741 controls, 170,737 total subjects) examining the association between 8q24 rs6983267 G/T polymorphism and cancer susceptibility. The G risk allele was significantly associated with increased cancer risk across all genetic models (dominant: OR=1.19, 95%CI=1.13-1.26; recessive: OR=1.19, 95%CI=1.14-1.25; homozygous: OR=1.31, 95%CI=1.23-1.40). Significant associations were found for colorectal cancer, prostate cancer, thyroid cancer, and lung cancer in ethnicity-stratified analyses.

Traits studied:Breast cancerCancer susceptibilityColorectal cancerGastric cancerLung cancerProstate cancerThyroid cancer
PubMedDOIMetascience Observatory
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Xeroderma pigmentosum genes and melanoma risk
AssociationN=300Paszkowska-Szczur K. et al.(2013)· International Journal of Cancer

Case-control study of 150 melanoma patients and 150 healthy controls evaluating seven nucleotide excision repair pathway polymorphisms (XPC Lys939Gln and Ala499Val, XPD Lys157Gln/Asp272Asn/Arg751Arg, XPG Asp1104His, XPF Arg415Gln) and cutaneous melanoma susceptibility. None of the polymorphisms showed significant association with melanoma risk in the Iranian population studied.

Traits studied:Cutaneous melanoma
PubMedDOIMetascience Observatory
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Epidermal Growth Factor Gene Functional Polymorphism and the Risk of Hepatocellular Carcinoma in Patients With Cirrhosis
AssociationN=328Kenneth K. Tanabe et al.(2008)· JAMA

The EGF gene rs4444903 (A61G) polymorphism is associated with hepatocellular carcinoma risk in cirrhotic patients through modulation of EGF expression levels. The G/G genotype showed 4.0-fold odds ratio (95% CI, 1.6-9.6; P=.002) for HCC compared with A/A in the Massachusetts cohort (207 patients, 59 HCC cases), with validation in a French alcoholic cirrhosis cohort (121 patients, 44 HCC cases; OR 2.9, P=.045). The G allele exhibits greater mRNA stability and higher EGF secretion in cell lines and tissues.

Traits studied:Hepatocellular carcinoma
PubMedDOIMetascience Observatory

About EGF

This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

View all EGF variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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