Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

We conducted a genome-wide association study testing single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) for association with early-onset myocardial infarction in 2,967 cases and 3,075 controls. We carried out replication in an independent sample with an effective sample size of up to 19,492. SNPs at nine loci reached genome-wide significance: three are newly identified (21q22 near MRPS6-SLC5A3-KCNE2, 6p24 in PHACTR1 and 2q33 in WDR12) and six replicated prior observations1-4 (9p21, 1p13 near CELSR2-PSRC1-SORT1, 10q11 near CXCL12, 1q41 in MIA3, 19p13 near LDLR and 1p32 near PCSK9). We tested 554 common copy number polymorphisms (>1% allele frequency) and none met the pre-specified threshold for replication (P < 10-3). We identified 8,065 rare CNVs but did not detect a greater CNV burden in cases compared to controls, in genes compared to the genome as a whole, or at any individual locus. SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk.

Are systemizing and autistic traits related to talent and interest in mathematics and engineering? Testing some of the central claims of the empathizing-systemizing theory.

In two experiments, we tested some of the central claims of the empathizing-systemizing (E-S) theory. Experiment 1 showed that the systemizing quotient (SQ) was unrelated to performance on a mathematics test, although it was correlated with statistics-related attitudes, self-efficacy, and anxiety. In Experiment 2, systemizing skills, and gender differences in these skills, were more strongly related to spatial thinking styles than to SQ. In fact, when we partialled the effect of spatial thinking styles, SQ was no longer related to systemizing skills. Additionally, there was no relationship between the Autism Spectrum Quotient (AQ) and the SQ, or skills and interest in mathematics and mechanical reasoning. We discuss the implications of our findings for the E-S theory, and for understanding the autistic cognitive profile.

Les salauds vont en enfer:Pièce en 2 actes de Frédéric Dard

Edition présentée et annotée par : Hugues Galli, Thierry Gautier et Dominique Jeannerod