Large-scale multi-ethnic cohorts offer unprecedented opportunities to elucidate the genetic factors influencing complex traits related to health and disease among minority populations. At the same time, the genetic diversity in these cohorts presents new challenges for analysis and interpretation. We consider the utility of race and/or ethnicity categories in genome-wide association studies (GWASs) of multi-ethnic cohorts. We demonstrate that race/ethnicity information enhances the ability to understand population-specific genetic architecture. To address the practical issue that self-identified racial/ethnic information may be incomplete, we propose a machine learning algorithm that produces a surrogate variable, termed HARE. We use height as a model trait to demonstrate the utility of HARE and ethnicity-specific GWASs.

In this proof-of-concept study, we demonstrated application of the PheWAS using large EHR biobanks to inform drug effects. The findings of an association of the IL6R SNP with reduced risk for aortic aneurysms correspond with the newest indication for IL6R blockade, giant cell arteritis, of which a major complication is aortic aneurysm.

We describe a method for measuring high-density lipoprotein cholesterol. MgCl2 and dextran sulfate are used to precipitate all low-density and very-low-density lipoproteins. The supernate contains only high-density lipoproteins, the cholesterol concentration of which is estimated by an enzymic method, with a discrete analyzer (Abbott Bichromatic Analyzer). Concentration and instrument response are linearly related to 50 mg/liter. The precision of the method is excellent in the range of clinical interest (100 to 1000 mg of cholesterol per liter). The precision and efficiency of the precipitation are shown at various concentrations of high-density lipoprotein cholesterol. The method was compared to that of two laboratories in the Cooperative Lipoprotein Phenotyping Study group by testing a number of split samples, and agreement was good.

Contaminated blood cultures may cause results to be misinterpreted, create unnecessary work for the laboratory, and increase costs. Disinfection of the venipuncture site is considered to be necessary for preventing contamination, although there is little information about the effectiveness of using different disinfection materials. The use of 70% isopropyl pads and povidone iodine saturated swabs (conventional method) was compared with the use of a 70% isopropyl/10% acetone scrub and povidone iodine dispenser (PREP method) for skin disinfection. Blood culture "kits" were prepared--bags containing collection tubes, instructions, and either conventional or PREP materials and were distributed randomly. The contents were concealed by a cover to prevent the user from selecting a specific type of decontamination kit. The kits were identified in the laboratory by color-coded labels on the collection tubes. Among 1,546 specimens evaluated, the contamination rate observed with conventional disinfection was significantly higher (4.6%; N = 763) than with PREP materials (2.2%; N = 783, P = 0.011) and was equivalent to the preceding 6-month contamination rate (4.7%). The lower contamination rate may be associated with greater effectiveness of a scrub or isopropyl/acetone solution, or both. Decontamination materials may have a significant impact on reducing blood culture contaminants from skin flora.