rs12261071 - LRMDA

Magnitude 2.0 · 1 study on file

Reported associations

• Genomics and response to long-term oxygen therapy in chronic obstructive pulmonary disease - Journal of molecular medicine (Berlin, Germany) (2019) · Seo M, Qiu W, Bailey W, Criner GJ, Dransfield MT, Fuhlbrigge AL, Reilly JJ, Scholand MB, Castaldi P, Chase R, Parker M, Saferali A, Yun JH, Crapo JD, Cho MH, Beaty TH, Silverman EK, Hersh CP · PubMed 30353303

  ABSTRACT: Chronic obstructive pulmonary disease (COPD) is a leading cause of death worldwide, and long-term oxygen therapy has been shown to reduce mortality in COPD patients with severe hypoxemia. However, the Long-term Oxygen Treatment Trial (LOTT), a large randomized trial, found no benefit of oxygen therapy in COPD patients with moderate hypoxemia. We hypothesized there may be differences in response to oxygen which depend on genotype or gene expression. In a genome-wide time-to-event analysis of the primary outcome of death or hospitalization in 331 subjects, 97 single nucleotide polymorphisms (SNPs) showed evidence of interaction with oxygen therapy at p<1e-5, including 7 SNPs near Arylsulfatase B (ARSB; p=6e-6). In microarray expression profiling on 51 whole blood samples from 37 in

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