rs351855
This is a variant in the FGFR4 gene that changes a glycine to an arginine.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body fat distribution
hemoglobin measurement
BMI-adjusted waist circumference
low density lipoprotein cholesterol measurement
serum alanine aminotransferase amount
Abnormality of the skeletal system
▶ClinVar annotation
Cancer progression and tumor cell motility; FGFR4-related disorder; See cases; not specified
View on ClinVar →▶Research that mentions this SNP (4)
▶Genetic sequence variants and the development of secondary primary cancers in patients with head and neck cancersAssociationN=531Abul Kalam Azad et al.(2012)· Cancer
This case-control association study evaluated 23 genetic sequence variants in 17 genes across DNA repair, cell cycle, and other pathways in 531 stage I-II radiation-treated head and neck cancer (HNC) patients to identify associations with secondary primary cancers (SPCs). Among the variants tested, the DNMT3B C149T variant (rs2424913) showed a strong significant association with SPC development, with adjusted hazard ratios of 2.23 (95% CI, 1.32-3.78; P = .003) for TT versus CC genotype and 1.49 (95% CI, 1.15-1.95; P = .003) per T allele. A haplotype cluster of 5 DNMT3B variants in strong linkage disequilibrium also showed significant associations (P < .003), suggesting aberrant DNA methylation is an important modulator of field cancerization in HNC.
▶Association between fibroblast growth factor receptor 4 polymorphisms and risk of hepatocellular carcinomaFunctionalN=65Yuan Yang et al.(2012)· Molecular Carcinogenesis
This study demonstrates that the FGFR4-388Arg variant (rs351855) promotes lung cancer progression through N-cadherin induction. Using in vitro, in vivo, and clinical approaches, the authors show that FGFR4-388Arg overexpression activates STAT3 and MAPK signaling and induces epithelial-to-mesenchymal transition in lung cancer cell lines. In a cohort of 65 NSCLC patients, FGFR4-388Arg correlated with poorer overall and progression-free survival in patients with high FGFR4 expression (p < 0.001 for PFS, p = 0.002 for OS).
▶Replication of prostate cancer risk loci on 8q24, 11q13, 17q12, 19q33, and Xp11 in African AmericansReviewStanley Hooker et al.(2010)· The Prostate
This comprehensive review examines genetic association studies on prostate cancer, discussing GWASs that have identified over 75 variants associated with PCa risk (as of February 2016), with major susceptibility regions at 8q24, 17q12, 17q24, 10q11, and 19q13. The paper also reviews candidate gene-based approaches targeting genes involved in androgen signaling, carcinogen metabolism, DNA repair, vitamin D signaling, inflammation, angiogenesis, and cellular adhesion, as well as regulatory RNA genes.
▶Polymorphisms of fibroblast growth factor receptor 4 have association with the development of prostate cancer and benign prostatic hyperplasia and the progression of prostate cancer in a Japanese populationMeta-analysisN=4,923Zhiyong Ma et al.(2008)· International Journal of Cancer
Meta-analysis of 2,618 prostate cancer cases and 2,305 controls examining the FGFR4 Gly388Arg polymorphism. The Arg388 allele increased prostate cancer risk compared with Gly388 (OR = 1.17, 95% CI = 1.07-1.29), with significant associations in both Asian and Caucasian populations. Patients with Arg/Arg genotype had 1.34-fold increased risk of advanced prostate cancer (95% CI: 1.03-1.74) compared to Gly/Gly+Gly/Arg genotypes.
About FGFR4
The protein encoded by this gene is a tyrosine kinase and cell surface receptor for fibroblast growth factors. The encoded protein is involved in the regulation of several pathways, including cell proliferation, cell differentiation, cell migration, lipid metabolism, bile acid biosynthesis, vitamin D metabolism, glucose uptake, and phosphate homeostasis. This protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment, and a cytoplasmic tyrosine kinase domain. The extracellular portion interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. [provided by RefSeq, Aug 2017]
View all FGFR4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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