rs2395672
This variant is located in the CMTR1 gene.
▶Research that mentions this SNP (1)
▶CMTR1 is associated with increased asthma exacerbations in patients taking inhaled corticosteroidsAssociationN=806Amber Dahlin et al.(2015)· Immunity, Inflammation and Disease
GWAS meta-analysis of 806 asthmatic patients from two biobanks identified six novel SNPs associated with asthma exacerbations despite inhaled corticosteroid use. The top finding, rs2395672 in CMTR1, was associated with increased exacerbation risk (OR=1.07, 95% CI 1.03-1.11, joint P=2.3×10⁻⁶). CMTR1 mRNA was significantly upregulated in nasal lavage samples from children during acute exacerbations, suggesting a mechanistic role in asthma pathogenesis.
About CMTR1
Enables mRNA (nucleoside-2'-O-)-methyltransferase activity. Involved in 7-methylguanosine mRNA capping. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2025]
View all CMTR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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