This Mendelian randomization study reports that genetic predisposition to elevated low-density lipoprotein cholesterol was associated with presence of aortic valve calcium and incidence of aortic stenosis.
This meta-analysis of genetic association studies summarizes associations between molecular targets of lipid-lowering therapy and risk of type 2 diabetes and coronary artery disease.
This genome-wide association study performed among children with acute lymphoblastic leukemia (ALL) found that an inherited polymorphism in the promoter region of CEP72 was associated with increased risk and severity of vincristine-related peripheral neuropathy.
Chung and coauthors conducted a case-control study in populations from Taiwan, Japan, and Malaysia and a genome-wide association study to investigate the genetic factors associated with phenytoin-related severe cutaneous adverse reactions.
To determine the molecular basis of multiple respiratory chain complex deficiencies, Taylor and coauthors used a whole-exome sequencing approach in 53 patients with biochemical evidence of multiple respiratory chain complex defects but no primary pathogenic mitochondrial DNA mutation.