Anna Pluzhnikov

TL;DR: A genome-wide search in 140 families with ≥2 asthmatic sibs, from three racial groups and report evidence for linkage to six novel regions, including 5p15 (P= 0.0008) and 17p11.1–q11.2 (/> = 0.0015) in African Americans and 11p15 and 19q13 (P =0.0013) in Caucasians and Hispanics.

TL;DR: Ten heterozygous mutations in the human insulin gene are reported in 16 probands with neonatal diabetes, and it is predicted that they prevent normal folding and progression of proinsulin in the insulin secretory pathway.

TL;DR: Results suggest that significant DHW can be expected in relatively small samples of patients over a range of genetic models, and propose a goodness-of-fit test to aid investigators in determining whether a DHW observed in the context of a case-control study is consistent with a genetic disease model.

TL;DR: Although no SNPs were identified to be associated with OCD at a genome-wide significant level in the combined trio–case–control sample, a significant enrichment of methylation QTLs and frontal lobe expression quantitative trait loci (eQTLs) was observed within the top-ranked SNPs, suggesting these top signals may have a broad role in gene expression in the brain, and possibly in the etiology of OCD.

TL;DR: A novel CYP2C single nucleotide polymorphism exerts a clinically relevant effect on warfarin dose in African Americans, independent of CYP 2C9*2 and CYP9*3, and incorporation of this variant into pharmacogenetic dosing algorithms could improve warFarin dose prediction in this population.