rs4754
This is a protein-altering variant in the SPP1 gene.
▶Research that mentions this SNP (1)
▶Genetic association of osteopontin (OPN) and its receptor CD44 genes with susceptibility to Chinese gastric cancer patientsAssociationN=736Yue Qiu et al.(2014)· Journal of Cancer Research and Clinical Oncology
A case-control association study in 311 Chinese gastric cancer patients and 425 controls identified SNPs in osteopontin (OPN) and CD44 genes associated with gastric cancer susceptibility. OPN rs4754 (OR 0.642, p=1.53×10⁻⁴) and rs9138 (OR 0.642, p=1.59×10⁻⁴) were protective, while OPN rs1126772 (OR 1.279, p=0.042) and CD44 rs353639 (OR 1.334, p=0.047) increased risk. OPN and CD44 protein expression were detected in tumor tissues and correlated with TNM stage and metastasis.
About SPP1
The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
View all SPP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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