rs16902460
This is a regulatory region variant variant in the PVT1 gene.
▶Research that mentions this SNP (1)
▶Genome‐wide association study of atypical psychosisAssociationN=929Tetsufumi Kanazawa et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
A GWAS of 47 Japanese atypical psychosis patients and 882 controls identified suggestive associations with CHN2/CPVL (rs245914, P=1.6×10⁻⁷), COL21A1 (rs12196860, P=2.45×10⁻⁷), and PYGL/TRIM9 (rs1959536, P=7.73×10⁻⁷), though none reached genome-wide significance. Gene-based analysis revealed significant genetic overlap with schizophrenia (P=0.014) but not bipolar disorder, suggesting atypical psychosis shares greater genetic architecture with schizophrenia.
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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