CMS physics technical design report : Addendum on high density QCD with heavy ions

Peer reviewe

Use of schizophrenia and bipolar disorder polygenic risk scores to identify psychotic disorders

Background There is increasing evidence for shared genetic susceptibility between schizophrenia and bipolar disorder. Although genetic variants only convey subtle increases in risk individually, their combination into a polygenic risk score constitutes a strong disease predictor. Aims To investigate whether schizophrenia and bipolar disorder polygenic risk scores can distinguish people with broadly defined psychosis and their unaffected relatives from controls. Method Using the latest Psychiatric Genomics Consortium data, we calculated schizophrenia and bipolar disorder polygenic risk scores for 1168 people with psychosis, 552 unaffected relatives and 1472 controls. Results Patients with broadly defined psychosis had dramatic increases in schizophrenia and bipolar polygenic risk scores, as did their relatives, albeit to a lesser degree. However, the accuracy of predictive models was modest. Conclusions Although polygenic risk scores are not ready for clinical use, it is hoped that as they are refined they could help towards risk reduction advice and early interventions for psychosis

Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis

To use high-density genotyping to investigate the genetic associations of acute anterior uveitis (AAU) in patients with and those without ankylosing spondylitis (AS).We genotyped samples from 1,711 patients with AAU (either primary or combined with AS), 2,339 AS patients without AAU, and 10,000 control subjects on an Illumina Immunochip Infinium microarray. We also used data for AS patients from previous genome-wide association studies to investigate the AS risk locus ANTXR2 for its putative effect in AAU. ANTXR2 expression in mouse eyes was investigated by real-time quantitative reverse transcription-polymerase chain reaction.A comparison between all patients with AAU and healthy control subjects showed strong association over HLA-B, corresponding to the HLA-B27 tag single-nucleotide polymorphism rs116488202. The association of 3 non-major histocompatibility complex loci, IL23R, the intergenic region 2p15, and ERAP1, reached genome-wide significance (P < 5 × 10(-8)). Five loci harboring the immune-related genes IL10-IL19, IL18R1-IL1R1, IL6R, the chromosome 1q32 locus harboring KIF21B, as well as the eye-related gene EYS, were also associated, reaching a suggestive level of significance (P < 5 × 10(-6)). Several previously confirmed AS associations demonstrated significant differences in effect size between AS patients with AAU and AS patients without AAU. ANTXR2 expression varied across eye compartments.These findings of both novel AAU-specific associations and associations shared with AS demonstrate overlapping but also distinct genetic susceptibility loci for AAU and AS. The associations in IL10 and IL18R1 are shared with inflammatory bowel disease, suggesting common etiologic pathways

Role of glycemic index and glycemic load in the healthy state, in prediabetes, and in diabetes.

The choice of carbohydrate-rich foods in the habitual diet should take into account not only their chemical composition but also their ability to influence postprandial glycemia (glycemic index). Fiber-rich foods generally have a low glycemic index (GI), although not all foods with a low GI necessarily have high fiber content. Several beneficial effects of low-GI, high-fiber diets have been shown, including lower postprandial glucose and insulin responses, an improved lipid profile, and, possibly, reduced insulin resistance. In nondiabetic persons, suggestive evidence is available from epidemiologic studies that a diet based on carbohydrate-rich foods with a low-GI, high-fiber content may protect against diabetes or cardiovascular disease. However, no intervention studies have so far evaluated the potential of low-GI, high-fiber diets to reduce the risk of diabetes, although in studies aimed at diabetes prevention by lifestyle modifications, an increase in fiber consumption was often part of the intervention. In relation to prevention of cardiovascular disease, intervention studies evaluating the effect of a low-GI diet on clinical events are not available; moreover, the results of the few available intervention studies evaluating the effects of GI on the cardiovascular disease risk factor profile are not always concordant. The best evidence of the clinical usefulness of GI is available in diabetic patients in whom low-GI foods have consistently shown beneficial effects on blood glucose control in both the short-term and the long-term. In these patients, low-GI foods are suitable as carbohydrate-rich choices, provided other attributes of the foods are appropriate