rs2071430
This is a regulatory region variant variant in the MX1 gene.
▶Research that mentions this SNP (2)
▶MxA transcripts with distinct first exons and modulation of gene expression levels by single-nucleotide polymorphisms in human bronchial epithelial cellsFunctionalN=38Satoshi Noguchi et al.(2013)· Immunogenetics
This functional study investigated MxA transcript expression patterns in human bronchial epithelial cells and identified regulatory effects of promoter and exon 1 SNPs (rs17000900, rs2071430, rs464138) on MxA expression. The study characterized two MxA transcript variants (T1 and T0) with distinct first exons, finding that T1 accounted for approximately two-thirds of total MxA expression at baseline and showed 100-fold higher induction by interferons. Baseline expression of the T1 transcript was significantly associated with alleles of -123 C/A (rs17000900), -88 G/T (rs2071430), and +20 C/A (rs464138) SNPs, with +20 C/A remaining independently associated in multiple regression analysis (p=0.016).
▶Variants in interferon‐alpha pathway genes and response to pegylated interferon‐Alpha2a plus ribavirin for treatment of chronic hepatitis C virus infection in the hepatitis C antiviral long‐term treatment against cirrhosis trial†‡AssociationN=712Tania Mara Welzel et al.(2009)· Hepatology
In the HALT-C trial of 581 European American patients with advanced chronic hepatitis C, genetic variants in the interferon-alpha pathway were associated with sustained virological response (SVR) to pegylated interferon-alpha-2a plus ribavirin therapy. Key associations included IFNAR1 IVS1-22G (aOR=0.57, p=0.02), IFNAR2 Ex2-33C (aOR=2.09, p=0.02), JAK1 IVS22+112T (aOR=1.66, p=0.04), and ADAR Ex9+14A (aOR=1.67, p=0.03). The TYK2 -2256A promoter variant showed a borderline association in European Americans (OR=1.51, p=0.05) but a strong association in African American patients (p=0.006).
About MX1
This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that participates in the cellular antiviral response. The encoded protein is induced by type I and type II interferons and antagonizes the replication process of several different RNA and DNA viruses. There is a related gene located adjacent to this gene on chromosome 21, and there are multiple pseudogenes located in a cluster on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
View all MX1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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