rs591291

This variant is located in the MALAT1 gene.

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Research that mentions this SNP (1)

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The association of lncRNA SNPs and SNPs‐environment interactions based on GWAS with HBV‐related HCC risk and progression
AssociationN=1,745Qing Liu et al.(2021)· Molecular Genetics & Genomic Medicine

This case-control study of 1,745 Southern Chinese subjects (643 HBV-related HCC patients, 549 CHB carriers, 553 HBV natural clearance subjects) identified 8 potentially functional lncRNA SNPs from two lncRNAs (lnc-ACACA-1 and lnc-RP11-150O12.3) located in HBV-related HCC GWAS susceptibility regions. The study found that rs9908998 in lnc-ACACA-1 significantly increased lymphatic metastasis risk (Adjusted OR = 1.95, 95% CI = 1.20-3.17), and that rs2275959, rs1008547, and rs11776545 in lnc-RP11-150O12.3 showed significant multiplicative and additive interactions with cancer family history on HBV-related HCC susceptibility, as well as associations with distant metastasis (Adjusted OR = 1.45, 95% CI = 1.06-1.97 for rs2275959; OR = 1.45, 95% CI = 1.06-1.98 for rs1008547; OR = 1.40, 95% CI = 1.03-1.91 for rs11776545).

Traits studied:Cancer embolusChronic hepatitis B (CHB)Distant metastasisHBV natural clearanceHepatitis B virus-related hepatocellular carcinoma (HBV-related HCC)Lymphatic metastasisTNM classification
PubMedDOIMetascience Observatory

About MALAT1

This gene produces a precursor transcript from which a long non-coding RNA is derived by RNase P cleavage of a tRNA-like small ncRNA (known as mascRNA) from its 3' end. The resultant mature transcript lacks a canonical poly(A) tail but is instead stabilized by a 3' triple helical structure. This transcript is retained in the nucleus where it is thought to form molecular scaffolds for ribonucleoprotein complexes. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer metastasis and cell migration, and it is involved in cell cycle regulation. Its upregulation in multiple cancerous tissues has been associated with the proliferation and metastasis of tumor cells. [provided by RefSeq, Mar 2015]

View all MALAT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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