Expressive

rs10023113 - CAMK2D

Magnitude 4.5 · 2 studies on file

Reported associations

  • Two polymorphic gene loci associated with treprostinil dose in pulmonary arterial hypertension. - Pharmacogenetics and genomics (2022) · Thomeas-McEwing V, Psotka MA, Gamazon ER, Friedman P, Konkashbaev A, Kubo M, Nakamura Y, Ratain MJ, Benza RL, Cox NJ, Gomberg-Maitland MI, Maitland ML · PubMed 35383711

    Prostacyclin infusion for pulmonary arterial hypertension (PAH) is an effective therapy with varied dosing requirements and clinical response. The major aim of this study was to determine new biologically-based predictors of prostacyclin treatment response heterogeneity. Ninety-eight patients with hemodynamically defined PAH at two academic medical centers volunteered for registry studies. A stable dose of treprostinil was the quantitative phenotype for the genome-wide association study (GWAS). Candidate genes with the largest effect sizes and strongest statistical associations were further characterized with in silico and in-vitro assays to confirm mechanistic hypotheses. The clinical significance of these candidate predictors was assessed for mechanistically consistent physiologic effect

  • Genome-wide association study of survival in early-stage non-small cell lung cancer. - Annals of surgical oncology (2015) · Tang S, Pan Y, Wang Y, Hu L, Cao S, Chu M, Dai J, Shu Y, Xu L, Chen J, Jin G, Hu Z, Ma H, Shen H · PubMed 25145502

    Lung cancer, especially non-small cell lung cancer (NSCLC), is the leading cause of cancer-related deaths all over the world. Studies have indicated that molecular biomarkers, including genetic variants, may provide additional values for the targeted treatments and clinical outcomes of NSCLC patients. To better understand the effects of molecular biomarkers on the treatment of NSCLC, we conducted a genome-wide analysis to investigate the prognostic implications of genetic variants in early-stage NSCLC patients with surgery. A genome wide scan of 906,703 single-nucleotide polymorphisms (SNPs) was conducted in a cohort with 365 early-stage NSCLC patients with surgery, followed by a fast-track replication in another independent cohort of 327 NSCLC patients from Nanjing, China. Cox models were

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