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The social stigma and chronicity of psoriasis significantly affect health-related quality of life (HRQoL).We examined the effect of three regimens of secukinumab on HRQoL in moderate to severe psoriasis patients.Twelve-week data from a phase II, randomized, double-blind, placebo-controlled, regimen-finding study evaluated HRQoL, measured by the Dermatology Life Quality Index (DLQI). Secukinumab or placebo was administered subcutaneously in three treatment regimens: single (baseline only), monthly (baseline, weeks 4, 8) and early (baseline, weeks 1, 2, 4). Differences among regimens were assessed with logistic regression models and Fisher's exact test.Patients (n = 404) were randomized to single (baseline) treatment regimen, n = 66; monthly, (baseline, weeks 4 and 8), n = 138; early, (baseline, weeks 1, 2, 4), n = 133; and placebo, n = 67. DLQI response was significantly higher in early, monthly and single regimens than in placebo regimen (40.8%, 33.6% and 13.1% vs. 1.6%, respectively; P0.001 for all).Moderate to severe psoriasis patients receiving monthly and early treatment with secukinumab demonstrated improved HRQoL compared with placebo.

Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.

Mathematical ability is heritable, but few studies have directly investigated its molecular genetic basis. Here we aimed to identify specific genetic contributions to variation in mathematical ability. We carried out a genome wide association scan using pooled DNA in two groups of U.K. samples, based on end of secondary/high school national academic exam achievement: high (n = 419) versus low (n = 183) mathematical ability while controlling for their verbal ability. Significant differences in allele frequencies between these groups were searched for in 906,600 SNPs using the Affymetrix GeneChip Human Mapping version 6.0 array. After meeting a threshold of p

Nat Genet

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.