rs13317
This is a regulatory region variant variant in the FGFR1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body height
Cleft palate, cleft lip
▶ClinVar annotation
Craniosynostosis syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia (HH2); Osteoglophonic dysplasia (OGD); Trigonocephaly 1 (TRIGNO1)
View on ClinVar →▶Research that mentions this SNP (5)
▶Association between PTCH1 and RAD54B single‐nucleotide polymorphisms and non‐syndromic orofacial clefts in a northern Chinese populationAssociationN=1,062Xiaotong Liu et al.(2018)· The Journal of Gene Medicine
This case-control association study examined six SNPs (rs10512248 in PTCH1, rs12681366 and rs958447 in RAD54B, rs13317 in FGFR1, rs1838105 and rs4968247 in WNT9B) in 596 NSOC patients and 466 controls from a Northern Chinese population. Two SNPs showed significant associations with non-syndromic orofacial clefts: PTCH1 rs10512248 (P=0.020) and RAD54B rs12681366, where the CT genotype showed decreased NSOC risk (OR=0.62, 95%CI=0.46-0.82, P=0.001). This replication study confirms GWAS findings in a Northern Chinese population and suggests RAD54B rs12681366 plays a protective role against orofacial clefts.
▶Association Between Single Nucleotide Polymorphisms in NFATC1 Signaling Pathway Genes and Susceptibility to Congenital Heart Disease in the Chinese PopulationAssociationN=570Fengyu Wang et al.(2016)· Pediatric Cardiology
Case-control study of 277 Chinese CHD patients and 293 controls examining 29 SNPs in NFATC1 signaling pathway genes (NFATC1, VEGFR, VEGF, RANKL, FGFR1, BCL-6, ZNRD1). After Bonferroni correction, rs4531631 (RANKL) showed significant association with increased CHD risk (homozygous AA vs. GG: OR 2.38, p=0.001; recessive: OR 2.54, p=0.0003), as did rs13317 (FGFR1) (recessive CC vs. CT/TT: OR 2.06, p=0.00196). Authors suggest these variants may be potential biomarkers for genetic diagnosis and treatment of CHD.
▶Studies of genes in the FGF signaling pathway and oral clefts with or without dental anomaliesAssociationN=966Renato Menezes et al.(2008)· American Journal of Medical Genetics Part A
A case-control study (484 cases with oral clefts, 482 controls) of polymorphisms in FGF signaling pathway genes found increased risk for complete unilateral cleft lip and palate with FGF10 rs1448037 (OR=1.52), unilateral right cleft lip and palate with FGF3 rs4980700 (OR=1.83), and bilateral cleft lip and palate with tooth agenesis with FGF10 rs1448037 (OR=1.95) and FGFR2 rs1219648 (OR=2.02).
▶Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesisAssociationN=205Alexandre R. Vieira et al.(2007)· American Journal of Medical Genetics Part A
This study investigated IRF6 and FGFR1 genes in tooth agenesis (congenital tooth absence) using 116 case/parent trios from Brazil and 89 cases/50 controls from Ohio. The IRF6 V274I variant (rs17015215) was significantly associated with tooth agenesis (P = 0.0006), with an estimated attributable fraction of 16.4%, and preferential association with premolar agenesis. Additional IRF6 markers rs861019 (P = 0.058) and rs7802 (P = 0.004) showed borderline/significant associations. FGFR1 marker rs881301 showed suggestive association with premolar agenesis (P = 0.014). Evidence of gene-gene interactions was found between IRF6 and MSX1 (P = 0.001) and IRF6 and TGFA (P = 0.03).
▶A genome‐wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11‐23AssociationN=2,031Riley BM et al.(2007)· American Journal of Medical Genetics Part A
A genome-wide linkage scan in 271 Filipino families identified a novel locus at 8p11-23 associated with nonsyndromic cleft lip and palate, with suggestive linkage results in FGFR1 (recessive HLOD 1.07) and BAG4 (recessive HLOD 1.31). Fine mapping of 13 candidate genes within the 8p11-23 region yielded positive results for five genes (FGFR1, BAG4, FZD3, EPHX2, SLC18A1), with FGFR1 being the most biologically plausible candidate given its known role in craniofacial development.
About FGFR1
The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative 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 of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
View all FGFR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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