Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome

Genetic studies of autism spectrum conditions (ASC) have mostly focused on the "low functioning" severe clinical subgroup, treating it as a rare disorder. However, ASC is now thought to be relatively common ( approximately 1%), and representing one end of a quasi-normal distribution of autistic traits in the general population. Here we report a study of common genetic variation in candidate genes associated with autistic traits and Asperger syndrome (AS). We tested single nucleotide polymorphisms in 68 candidate genes in three functional groups (sex steroid synthesis/transport, neural connectivity, and social-emotional responsivity) in two experiments. These were (a) an association study of relevant behavioral traits (the Empathy Quotient (EQ), the Autism Spectrum Quotient (AQ)) in a population sample (n=349); and (b) a case-control association study on a sample of people with AS, a "high-functioning" subgroup of ASC (n=174). 27 genes showed a nominally significant association with autistic traits and/or ASC diagnosis. Of these, 19 genes showed nominally significant association with AQ/EQ. In the sex steroid group, this included ESR2 and CYP11B1. In the neural connectivity group, this included HOXA1, NTRK1, and NLGN4X. In the socio-responsivity behavior group, this included MAOB, AVPR1B, and WFS1. Fourteen genes showed nominally significant association with AS. In the sex steroid group, this included CYP17A1 and CYP19A1. In the socio-emotional behavior group, this included OXT. Six genes were nominally associated in both experiments, providing a partial replication. Eleven genes survived family wise error rate (FWER) correction using permutations across both experiments, which is greater than would be expected by chance. CYP11B1 and NTRK1 emerged as significantly associated genes in both experiments, after FWER correction (P<0.05). This is the first candidate-gene association study of AS and of autistic traits. The most promising candidate genes require independent replication and fine mapping.

The new Brazilian cinema

In the second half of the 1990s, Brazil experienced a cinematic boom. Many of the new films were received enthusiastically by audiences and critics and released worldwide. This passionately argued and illuminating book provides the first comprehensive critical account of what is known as the 'Renaissance of Brazilian cinema' and demonstrates just how thought-provoking and inspiring Brazilian cinema has become. Contributors: José Carlos Avellar - Ivana Bentes - Stephanie Dennison - Verônica Ferreira Dias - Carlos Diegues - Amir Labaki - Maria Esther Maciel - José Álvaro Moisés - Laura Mulvey - Lúcia Nagib - Luiz Zanin Oricchio - Fernão Pessoa Ramos - Lisa Shaw - Robert Stam - João Luiz Vieira - Ismail Xavier.

PLEASE CITE THIS: an exploratory paper on citations, impacts and the social accounting literature

This paper seeks to use the increasingly influential citation and impact data to explore the contours of the social and environmental accounting (SEA) literature. Our ambitions are fourfold. First, we offer a more nuanced understanding of the journals in which we tend to publish SEA research. Second, we tease out what might plausibly be thought to be one indication of the ‘most influential’ SEA papers. Third, we offer a substantive cautionary note about the dangers of the careless use of citations as singular measures of ‘quality’ or ‘importance’, etc. Finally, we place the growing SEA literature in a wider context which both flatters and challenges the community that SEAJ seeks to serve.