rs114132812 - HSBP1, CDH13

Magnitude 4.5 · 1 study on file

Reported associations

• A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease. - The pharmacogenomics journal (2017) · Hardin M, Cho MH, McDonald ML, Wan E, Lomas DA, Coxson HO, MacNee W, Vestbo J, Yates JC, Agusti A, Calverley PM, Celli B, Crim C, Rennard S, Wouters E, Bakke P, Bhatt SP, Kim V, Ramsdell J, Regan EA, Make BJ, Hokanson JE, Crapo JD, Beaty TH, Hersh CP · PubMed 26503814

  Short-acting β2-agonist bronchodilators are the most common medications used in treating chronic obstructive pulmonary disease (COPD). Genetic variants determining bronchodilator responsiveness (BDR) in COPD have not been identified. We performed a genome-wide association study (GWAS) of BDR in 5789 current or former smokers with COPD in one African-American and four white populations. BDR was defined as the quantitative spirometric response to inhaled β2-agonists. We combined results in a meta-analysis. In the meta-analysis, single-nucleotide polymorphisms (SNPs) in the genes KCNK1 (P=2.02 × 10(-7)) and KCNJ2 (P=1.79 × 10(-7)) were the top associations with BDR. Among African Americans, SNPs in CDH13 were significantly associated with BDR (P=5.1 × 10(-9)). A nominal association with

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