rs1448037
This is a intron variant variant in the FGF10 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
vital capacity
▶Research that mentions this SNP (3)
▶Exploring the interaction between FGF Genes and T‐box genes among chinese nonsyndromic cleft lip with or without cleft palate case‐parent triosReviewWenyong Li et al.(2019)· Environmental and Molecular Mutagenesis
This systematic review examines FGF10 (fibroblast growth factor 10) pathogenic variants and their phenotypic effects across multiple organ systems, spanning from rare developmental disorders (lacrimal/salivary gland aplasia, lethal lung dysplasia) to common complex traits including chronic obstructive pulmonary disease, myopia, cleft lip/palate, and various cancers. The paper integrates functional data on FGF10 as an FGFR2b-specific ligand with a comprehensive catalog of reported variants and their clinical associations across human and animal studies.
▶Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish populationReviewAdrianna Mostowska et al.(2010)· Birth Defects Research Part A: Clinical and Molecular Teratology
This systematic review synthesizes current knowledge on FGF10-related disorders, covering the molecular mechanisms, tissue-specific expression patterns, and phenotypic spectrum of FGF10 abnormalities in humans. Key findings include that pathogenic variants in FGF10 cause congenital disorders (lacrimo-auriculo-dento-digital syndrome, aplasia of lacrimal and salivary glands, lethal lung developmental disorders) and that common SNPs in FGF10 are associated with increased risk of COPD (rs2973644, rs1011814, rs980510, rs10512844, rs10473352), myopia (rs339501, rs12517396), breast cancer (rs10941679), and cleft lip/palate (rs10462065).
▶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).
About FGF10
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq, Jul 2008]
View all FGF10 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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