rs2190503
This variant is located in the GRB10 gene.
▶Research that mentions this SNP (1)
▶Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNAAssociationN=37,352Madalene A. Earp et al.(2014)· Human Genetics
A genome-wide association study (GWAS) of subtype-specific epithelial ovarian cancer (EOC) using pooled DNA from 545 cases and 398 controls in the discovery stage, followed by replication in 13,188 cases and 23,164 controls. Nine variants tagging six loci were associated with subtype-specific EOC risk (P<0.05), including rs17106154 (OR=1.17, P=0.029) near ZFP36L1/RAD51B for mucinous EOC, rs2190503 (P=0.014, OR=1.11) near GRB10 for endometrioid/clear cell EOC, and rs9609538 (OR=0.84, P=0.0007) near C22orf26/BPIL2 for low-malignant-potential serous EOC, which remained significant after multiple testing correction.
About GRB10
The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]
View all GRB10 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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