rs10795948 - CDC123 - RN7SL198P

Magnitude 4.5 · 1 study on file

Reported associations

• Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink. - Clinical pharmacology and therapeutics (2020) · Carr DF, Francis B, Jorgensen AL, Zhang E, Chinoy H, Heckbert SR, Bis JC, Brody JA, Floyd JS, Psaty BM, Molokhia M, Lapeyre-Mestre M, Conforti A, Alfirevic A, van Staa T, Pirmohamed M · PubMed 31220337

  Statins can be associated with myopathy. We have undertaken a genomewide association study (GWAS) to discover and validate genetic risk factors for statin-induced myopathy in a "real-world" setting. One hundred thirty-five patients with statin myopathy recruited via the UK Clinical Practice Research Datalink were genotyped using the Illumina OmniExpress Exome version 1.0 Bead Chip and compared with the Wellcome Trust Case-Control Consortium (n = 2,501). Nominally statistically significant single nucleotide polymorphism (SNP) signals in the GWAS (P < 5 × 10 ) were further evaluated in several independent cohorts (comprising 332 cases and 449 drug-tolerant controls). Only one (rs4149056/c.521C>T in the SLCO1B1 gene) SNP was genomewide significant in the severe myopathy (creatine kinas

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