Study of the hydrogen stability in evaporated amorphous Si 1− x Sn x :H (0≤ x ≤0.2) alloys by neutron scattering and exodiffusion measurements

International audienc

Evidence for amorphous multilayered silicon obtained by deposition under modulated pressure of hydrogen

International audienc

A genome-wide association study of anorexia nervosa.

Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by dangerously low body weight. Neither candidate gene studies nor an initial genome-wide association study (GWAS) have yielded significant and replicated results. We performed a GWAS in 2907 cases with AN from 14 countries (15 sites) and 14 860 ancestrally matched controls as part of the Genetic Consortium for AN (GCAN) and the Wellcome Trust Case Control Consortium 3 (WTCCC3). Individual association analyses were conducted in each stratum and meta-analyzed across all 15 discovery data sets. Seventy-six (72 independent) single nucleotide polymorphisms were taken forward for in silico (two data sets) or de novo (13 data sets) replication genotyping in 2677 independent AN cases and 8629 European ancestry controls along with 458 AN cases and 421 controls from Japan. The final global meta-analysis across discovery and replication data sets comprised 5551 AN cases and 21 080 controls. AN subtype analyses (1606 AN restricting; 1445 AN binge-purge) were performed. No findings reached genome-wide significance. Two intronic variants were suggestively associated: rs9839776 (P=3.01 × 10(-7)) in SOX2OT and rs17030795 (P=5.84 × 10(-6)) in PPP3CA. Two additional signals were specific to Europeans: rs1523921 (P=5.76 × 10(-)(6)) between CUL3 and FAM124B and rs1886797 (P=8.05 × 10(-)(6)) near SPATA13. Comparing discovery with replication results, 76% of the effects were in the same direction, an observation highly unlikely to be due to chance (P=4 × 10(-6)), strongly suggesting that true findings exist but our sample, the largest yet reported, was underpowered for their detection. The accrual of large genotyped AN case-control samples should be an immediate priority for the field

A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

J. Kaprio, A. Palotie, A. Raevuori-Helkamaa ja S. Ripatti ovat työryhmän Eating Disorders Working Group of the Psychiatric Genomics Consortium jäseniä. Erratum in: Sci Rep. 2017 Aug 21;7(1):8379, doi: 10.1038/s41598-017-06409-3We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 x 10(-7); OR = 0.7; 95% confidence interval (CI) = 0.61-0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. Multiple SNPs in LD with the variant support the nominal association. This demonstrates that although the clinical and etiologic heterogeneity of AN is universally recognized, further careful sub-typing of cases may provide more precise genomic signals. In this study, through a refinement of the phenotype spectrum of AN, we present a replicable GWAS signal that is nominally associated with AN, highlighting a potentially important candidate locus for further investigation.Peer reviewe

A genome-wide association study of anorexia nervosa

Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by dangerously low body weight. Neither candidate gene studies nor an initial genome wide association study (GWAS) have yielded significant and replicated results. We performed a GWAS in 2,907 cases with AN from 14 countries (15 sites) and 14,860 ancestrally matched controls as part of the Genetic Consortium for AN (GCAN) and the Wellcome Trust Case Control Consortium 3 (WTCCC3). Individual association analyses were conducted in each stratum and meta-analyzed across all 15 discovery datasets. Seventy-six (72 independent) SNPs were taken forward for in silico (two datasets) or de novo (13 datasets) replication genotyping in 2,677 independent AN cases and 8,629 European ancestry controls along with 458 AN cases and 421 controls from Japan. The final global meta-analysis across discovery and replication datasets comprised 5,551 AN cases and 21,080 controls. AN subtype analyses (1,606 AN restricting; 1,445 AN binge-purge) were performed. No findings reached genome-wide significance. Two intronic variants were suggestively associated: rs9839776 (P=3.01×10−7) in SOX2OT and rs17030795 (P=5.84×10−6) in PPP3CA. Two additional signals were specific to Europeans: rs1523921 (P=5.76×10−6) between CUL3 and FAM124B and rs1886797 (P=8.05×10−6) near SPATA13. Comparing discovery to replication results, 76% of the effects were in the same direction, an observation highly unlikely to be due to chance (P= 4×10−6), strongly suggesting that true findings exist but that our sample, the largest yet reported, was underpowered for their detection. The accrual of large genotyped AN case-control samples should be an immediate priority for the field

ATOMIC TRANSPORTDIFFUSION IN LIQUID METALS AND SIMPLE LIQUIDS

No abstract availabl

Diffusion d'impuretés dans le cuivre et l'étain liquides

The diffusion coefficient Di of 110mAg, 111 In, 113Sn, 124Sb and 195Au has been measured in liquid Sn and liquid Cu, in the temperature range from the melting point of the solvent to 1 850 K, using a shear cell assembly which provides accurate data. The experimental data are compared with the binary collision diffusion coefficient DEi of equivalent hard spheres. The ratio Ci = Di/DEi is interpreted in terms of the fluid density and of the mass and size of the solute atoms.En utilisant une cellule de cisaillement, le coefficient de diffusion D i de 110mAg, 111In, 113Sn, 124 Sb et 195Au dans le cuivre et l'étain liquides a été mesuré du point de fusion du solvant à 1 850 K. Les résultats sont comparés au coefficient de diffusion DEi obtenu dans l'approximation de collisions binaires de sphères dures équivalentes. Le rapport Ci = Di/DEi, qui traduit les phénomènes à plusieurs corps, est interprété en fonction de la densité du fluide, de la masse et de la taille des atomes de soluté par rapport au solvant

IMPURITY DIFFUSION IN LIQUID METALS

No abstract availabl

Neutron scattering measurements of interdiffusion in amorphous Si/Ge multilayers

Multilayered amorphous Si/amorphous Ge films with a periodicity of 80 to 100 Å have been obtained using UHV evaporation techniques. The interdiffusion coefficient D of this system was determined by measuring the intensity of the neutron (000) forward scattering satellites arising from the modulation, as a function of annealing temperature and time. The temperature dependence of D in the range 620-710 K is described by D = 6.34 x 10-3 exp (- 2.35 eV/kT ) cm2 s-1.Des structures multicouches ont été obtenues en évaporant successivement des films de silicium et de germanium amorphes, avec des périodes allant de 80 à 100 Å. Le coefficient d'interdiffusion D de Si/Ge a été déterminé en mesurant, en fonction des températures et des temps de recuit, l'intensité des réflexions satellites d'un faisceau de neutrons, liées à la modulation périodique du contraste. Dans l'intervalle T = 620 - 720 K, D varie comme 6,34 x 10-3 exp (- 2,35 eV/kT) cm2 s-1