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Identifying the genetic variants that increase the risk of type 2 diabetes (T2D) in humans has been a formidable challenge. Adopting a genome-wide association strategy, we genotyped 1161 Finnish T2D cases and 1174 Finnish normal glucose-tolerant (NGT) controls with >315,000 single-nucleotide polymorphisms (SNPs) and imputed genotypes for an additional >2(More)
Type 2 diabetes mellitus is a complex disorder encompassing multiple metabolic defects. We report results from an autosomal genome scan for type 2 diabetes-related quantitative traits in 580 Finnish families ascertained for an affected sibling pair and analyzed by the variance components-based quantitative-trait locus (QTL) linkage approach. We analyzed(More)
Kaisa Silander, Laura J. Scott, Timo T. Valle, Karen L. Mohlke, Heather M. Stringham, Kerry R. Wiles, William L. Duren, Kimberly F. Doheny, Elizabeth W. Pugh, Peter Chines, Narisu Narisu, Peggy P. White, Tasha E. Fingerlin, Anne U. Jackson, Chun Li, Soumitra Ghosh, Victoria L. Magnuson, Kimberly Colby, Michael R. Erdos, Jason E. Hill, Pablo Hollstein,(More)
Early treatment of phenylketonuria by dietary phenylalanine restriction prevents brain damage. Behavioral and cognitive deficits occur when serum phenylalanine levels increase. Administration of valine, isoleucine, and leucine to patients with phenylketonuria may inhibit entry of phenylalanine into the brain and reduce its toxic effects on the central(More)
The aim of the Finland-United States Investigation of NIDDM Genetics (FUSION) study is to identify genes that predispose to type 2 diabetes or are responsible for variability in diabetes-related traits via a positional cloning and positional candidate gene approach. In a previously published genome-wide scan of 478 Finnish affected sibling pair (ASP)(More)
The decision to continue treatment for phenylketonuria (PKU) patients into adolescence and adulthood presents a challenge to nutritionists and other professionals who must motivate patients to maintain the diet and give them support. Nutrition needs must be assessed and then met by commercial low-phenylalanine formula and low-protein foods, while at the(More)
To investigate whether the risk of life-threatening complications influence the decisions involving invasive diagnostic procedures, a study was conducted that focused on the use of coronary angiography and endomyocardial biopsy with risk rates of either 1% or 2%. The participants included 38 physicians from two university-affiliated hospitals. Of their 76(More)
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