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Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8. When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10−8 threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
The elastic alpha scattering to backward angles has been studied for 40,42,44,48Ca between 40.7 and 72.3 MeV. The cross sections for 40Ca are larger than those for the higher isotopes up to the highest energies. They show backward increases that disappear above 50 MeV. The enhancement factor for 40Ca over 42,44Ca varies smoothly with energy. 48Ca does also show a backward cross-section enhancement over 42,44Ca. alpha -cluster rotational bands in the 44Ti compound state, four-nucleon correlations in 40Ca, and the l-dependent optical model are discussed as approaches to understand the anomaly. The rotator model appears to agree qualitatively with the experimental data. It involves rotational bands extending at least up to J=16 in 44Ti.
Angular distributions for elastic and inelastic transitions in 20Ne + 16O scattering have been measured at E(20Ne)=50 MeV. For the 0+, 2+, and 4+ members of the 20Ne ground-state rotational band, the angular distributions exhibit pronounced backward peaking characteristic of an alpha -cluster exchange mechanism. The analysis of the ground-state transition in the first-order elastic transfer model yields no satisfactory fit although microscopic cluster form factors and full recoil corrections are employed. A coupled channels calculation for the 0+, 2+, and 4+ transitions reveals very strong coupling effects, indicating that the coherent superposition of first-order optical model and distorted-wave Born-approximation amplitudes may not be an adequate model for these reactions. NUCLEAR REACTIONS 16O(20Ne, 16O) and 16O(20Ne, 20Ne), elastic and inelastic transfer; E=50MeV; measured sigma (Ef , theta ); optical model + DWBA, and CCBA analyses.