The concept of autoinflammation has evolved over the past 20 years, beginning with the discovery that mutations in the Mediterranean Fever (MEFV) gene were causative of Familial Mediterranean Fever. Currently, autoinflammatory diseases comprise a wide range of disorders with the common features of recurrent fever attacks, prevalence of hyperreactive innate immune cells, and signs of inflammatio...

Genetic Determinants of Sudden Cardiac Death Print ISSN: 0009-7322. Online ISSN: 1524-4539 Copyright © 2008 American Heart Association, Inc. All rights reserved. is published by the American Heart Association, 7272 Greenville Avenue, Dallas, TX 75231 Circulation doi: 10.1161/CIRCULATIONAHA.108.783654 2008;118:1854-1863 Circulation. http://circ.ahajournals.org/content/118/18/1854 World Wide Web ...

Individuals vary in their willingness to take financial risks. Here we show that variants of two genes that regulate dopamine and serotonin neurotransmission and have been previously linked to emotional behavior, anxiety and addiction (5-HTTLPR and DRD4) are significant determinants of risk taking in investment decisions. We find that the 5-HTTLPR s/s allele carriers take 28% less risk than tho...

Incomplete penetrance and variable expressivity confound the diagnosis and therapy of most inherited thrombotic and hemorrhagic disorders. For many of these diseases, some or most of this variability is determined by genetic modifiers distinct from the primary disease gene itself. Clues toward identifying such modifier genes may come from studying rare Mendelian disorders of hemostasis. Example...

Osteoporosis is a common, complex disease that is influenced by genetic and environmental factors. Although molecular genetic studies have identified several potential regions of linkage, underlying susceptibility gene(s) are largely unknown. Genetic susceptibility to osteoporosis may be both context dependent and developmentally regulated, and epigenetic mechanisms are the likely link between ...

The amount of pollen stored in honey bee, Apis mellifera, colonies is a selectable trait. Five generations of two-way selection resulted in high and low strains that differed more than six-fold in quantities of stored pollen. Comparisons with hybrid crosses suggested that colony-level, high pollen-hoarding behaviour is inherited as a recessive trait. Colony levels of stored honey, however, show...

BACKGROUND In prostate cancer, early detection and appropriate treatment remain key approaches. But given the constantly increasing incidence, prostate cancer ethiopathogenetic determinants are a current focus of attention. Although the development of this cancer is influenced by both environmental and genetic factors which are as yet ill-defined, genetic studies have revealed gene abnormalitie...

Sotoodehinia et al 1 investigated the role of common genetic variations (single nucleotide polymorphisms; SNPs) in determining QRS duration. The authors performed a meta-analysis of 14 genome-wide association studies of QRS duration in a total of 40 407 individuals (after adjustment for clinical variables) using a cut off of P 5 10 . The discovery phase was followed by a validation study consis...

We have used yeast Saccharomyces cerevisiae as a tool to identify the importance of mitochondrial processes involved in arsenic-induced carcinogenicity in humans. We screened 466 single-gene knockout strains of yeast S. cerevisiae known to be involved in biogenesis of mitochondria for sodium arsenite (AsIII) and sodium arsenate (AsV) sensitivity. We identified 72 arsenite-sensitive and 81 arsen...