Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.

Large-scale association analysis identifies new risk loci for coronary artery disease

Coronary artery disease (CAD) is the commonest cause of death. Here, we report an association analysis in 63,746 CAD cases and 130,681 controls identifying 15 loci reaching genome-wide significance, taking the number of susceptibility loci for CAD to 46, and a further 104 independent variants (r(2)

Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

Regulatory and coding variants are known to be enriched with associations identified by genome-wide association studies (GWASs) of complex disease, but their contributions to trait heritability are currently unknown. We applied variance-component methods to imputed genotype data for 11 common diseases to partition the heritability explained by genotyped SNPs () across functional categories (while accounting for shared variance due to linkage disequilibrium). Extensive simulations showed that in contrast to current estimates from GWAS summary statistics, the variance-component approach partitions heritability accurately under a wide range of complex-disease architectures. Across the 11 diseases DNaseI hypersensitivity sites (DHSs) from 217 cell types spanned 16% of imputed SNPs (and 24% of genotyped SNPs) but explained an average of 79% (SE = 8%) of  from imputed SNPs (5.1× enrichment; p = 3.7 × 10⁻¹⁷) and 38% (SE = 4%) of  from genotyped SNPs (1.6× enrichment, p = 1.0 × 10⁻⁴). Further enrichment was observed at enhancer DHSs and cell-type-specific DHSs. In contrast, coding variants, which span 1% of the genome, explained <10% of  despite having the highest enrichment. We replicated these findings but found no significant contribution from rare coding variants in independent schizophrenia cohorts genotyped on GWAS and exome chips. Our results highlight the value of analyzing components of heritability to unravel the functional architecture of common disease.

Roberto Benjamin (org.), A fala e o gesto: ensaios de folkcomunicação sobre narrativas populares, Recife, Imprensa Universitária, 1996, 152 pp.

Apresentando como título uma paráfrase da famosa obra de Leroi-Gourham, este primeiro número da colecção “Pesquisa Académica” é uma colectânea de nove artigos/comunicações resultantes da investigação levada a cabo por Roberto Benjamim e seus alunos do curso de mestrado em comunicação rural da Universidade Federal Rural de Pernambuco. Os estudos abrangem um vasto leque de assuntos que vão desde a preocupação das metodologias de recolha, transcrição e análise de narrativas orais, à apresentação de exemplos de cartas populares pernambucanas analisadas com essa utensilagem.

Memorial of citizens of Chesterfield, Marlborough, and Darlington, assembled at Cheraw in South Carolina, against a further increase of duties on imported articles, February 4, 1828 : referred to the Committee of the Whole House on the state of the Union

This document contains a memorial, which was written by the citizens of Chesterfield, Marlborough, and Darlington, assembled in the town of Cheraw, on July 25, the 25, 1827 in the state of South Carolina who were engaged in agriculture and commerce and presented it to oppose the tariff increase. It was presented to the Congress of the United States.

Proceedings of the General Assembly of South Carolina in the matter of the impeachment of Judge William Dobein James, November-December, 1827, and January, 1828

This document contains an account of the proceedings pertaining to the impeachment of Judge William Dobein James. The document contains the arguments for and against the impeachment as well as the voting tallies.