rs2114358
This is a downstream gene variant variant in the PVT1 gene.
▶Research that mentions this SNP (1)
▶The association of common polymorphisms in miR-196a2 with waist to hip ratio and miR-1908 with serum lipid and glucoseAssociationN=73,014Mohsen Ghanbari et al.(2015)· Obesity
Two miRNA genetic variants were identified as significantly associated with cardiometabolic phenotypes: rs11614913 in miR-196a2 associated with waist-to-hip ratio (P=1.7e-25), and rs174561 in miR-1908 associated with lipid and glucose traits. Functional analyses revealed these variants affect pre-miRNA processing and regulate target genes involved in fat distribution and lipid metabolism.
About PVT1
This gene represents a long non-coding RNA locus that has been identified as a candidate oncogene. Increased copy number and overexpression of this gene are associated with many types of cancers including breast and ovarian cancers, acute myeloid leukemia and Hodgkin lymphoma. Allelic variants of this gene are also associated with end-stage renal disease attributed to type 1 diabetes. Consistent with its association with various types of cancer, transcription of this gene is regulated by the tumor suppressor p53 through a canonical p53-binding site, and it has been implicated in regulating levels of the proto-oncogene MYC to promote tumorigenesis. [provided by RefSeq, Sep 2015]
View all PVT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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