Familial genes in sporadic disease: Common variants of a-Synuclein gene associate with Parkinson’s disease

Genetic variation of the alpha-synuclein gene (SNCA) is known to cause familial parkinsonism, however the role of SNCA variants in sporadic Parkinson's disease (PD) remains elusive. The present study identifies an association of common SNCA polymorphisms with disease susceptibility in a series of Irish PD patients. There is evidence for association with alternate regions, of protection and risk which may act independently/synergistically, within the promoter region (Rep1; OR: 0.59, 95% CI: 0.37-0.84) and the 3'UTR of the gene (rs356165; OR: 1.67, 95% CI: 1.08-2.58). Given previous reports of association a collaborative effort is required which may exploit global linkage disequilibrium patterns for SNCA and standardise polymorphic markers used in each population. It is now crucial to identify the susceptibility allele and elucidate its functionality which may generate a therapeutic target for PD.

A gain-of-function mutation in the HIF2A gene in familial erythrocytosis

Hypoxia-inducible factor (HIF) a, which has three isoforms, is central to the continuous balancing of the supply and demand of oxygen throughout the body. HIF-a is a transcription factor that modulates a wide range of processes, including erythropoiesis, angiogenesis, and cellular metabolism. We describe a family with erythrocytosis and a mutation in the HIF2A gene, which encodes the HIF-2a protein. Our functional studies indicate that this mutation leads to stabilization of the HIF-2a protein and suggest that wild-type HIF-2a regulates erythropoietin production in adults.

The police officer's terrorist dilemma: Trust resilience following fatal errors

Suicide attacks have raised the stakes for officers deciding whether or not to shoot a suspect ('Police Officer's Terrorist Dilemma'). Despite high-profile errors we know little about how trust in the police is affected by their response to the terrorist threat. Building on a conceptualisation of lay observers as intuitive signal detection theorists, a general population sample (N= 1153) were presented with scenarios manipulated in terms of suspect status (Armed/Unarmed), officer decision (Shoot/Not Shoot) and outcome severity (e.g. suspect armed with Bomb/Knife; police shoot suspect/ suspect plus child bystander). Supporting predictions, people showed higher trust in officers who made correct decisions. reflecting good discrimination ability and who decided to shoot, reflecting an 'appropriate' response bias given the relative costs and benefits. This latter effect was moderated by (a) outcome severity, suggesting it did not simply reflect a preference for a particular type of action, and (b) preferences for a tough stance towards terrorism indexed by Right-Wing Authoritarianism (RWA). Despite loss of civilian life, failure to prevent minor terror attacks resulted in no loss of trust amongst people low in RWA. whereas among people high in RWA trust was positive when police erroneously shot all unarmed suspect. Relations to alternative definitions of trust and procedural justice research are discussed. Copyright (C),. 2007 John Wiley & Sons, Ltd.