In the Literature

The Forensic Use of Behavioral Genetics in Criminal Proceedings: Case of the MAOA-L Genotype
Sally McSwiggan et al.
A low activity genotype of monoamine oxidase (MAOA-L) could be linked to a higher risk of aggressive and antisocial behavior. The study identified criminal cases citing a MAOA-L genotype as evidence to excuse or mitigate behavior. The genetic evidence was admissible in some courts during the guilt, sentencing, and post-conviction appeal stages. In some of these, the case concluded with a lesser sentence. It is difficult to gauge the effect of both MAOA-L and other allelic variants on individual behavior, and the introduction of the evidence on the outcome of the case.    

Psychological, Behavioral, and Social Effects of Disclosing Alzheimer’s Disease Biomarkers to Research Participants: A Systematic Review
Sonja Bemelmans et al.
This literature review investigated the psychological, behavioral, and social effects of disclosing Alzheimer’s disease (AD) biomarker results (in particular, an APOE genotype) to cognitively healthy participants. It concluded that the disclosure of an APOE ε4-positivity genotype result does not lead to elevated anxiety or depression in individuals with a first-degree relative with AD, but could increase test-related distress and impact decision-making concerning insurance and health.

Towards a More Representative Morphology: Clinical and Ethical Considerations for Including Diverse Populations in Diagnostic Genetic Atlases
Maya Koretzky et al.
Textbooks of dysmorphology used by healthcare professionals to diagnose genetic syndromes lack diversity in phenotypic images and do not allow geneticists to diagnose conditions in individuals of different ancestral backgrounds easily. This paper addresses the importance and ethical concerns of projects combatting the lack of images from diverse populations.

Exploring Boundaries for the Genetic Consequences of Assortative Mating for Psychiatric Traits
Wouter J. Peyrot
Partners tend to be characterized by similar psychiatric traits, which can result in accumulated genetic risk in offspring. This study tried to quantify this accumulated risk, which has been long assumed, and finds that consequences may be most pronounced for rare disorders with high heritability.

Geneticists Should Offer Data to Participants
Sarah Nelson
A genetics researcher asked for access to her genomic data in exchange for her participation in a research project, and was refused. She concludes that the genetics research community needs to develop an anticipatory infrastructure to return raw data to interested participants.

A Bivariate Genetic Analysis of Drug Abuse Ascertained Through Medical and Criminal Registries in Swedish Twins, Siblings, and Half-Siblings
Hermine Maes et al.
Using data from the Swedish nationwide registry, this study found substantial heritability and moderate contributions of shared environmental factors to drug abuse. In addition, genetic and shared environmental risk factors for drug abuse were highly correlated.

Genetic Associations Between Personality Traits and Lifetime Reproductive Success in Humans
Venla Berg et al.
This study looked at associations between lifetime reproductive success and genotypic and phenotypic characterizations of two personality traits: neuroticism and extraversion. This work will help to predict responses to population selection more accurately.

Contribution of Copy Number Variants to Schizophrenia from a Genome-Wide Study of 41,321 Subjects
CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium
This genome-wide study investigated the contribution of copy number variants (CNV) to schizophrenia (SCZ) in a uniquely large study cohort. The study found significant evidence for enrichment of CNV burden in cases at eight loci, and suggestive support for eight additional loci. The significant genes are primarily associated with synaptic function and neurobehavioral phenotypes.  

In the Literature, cont. 
RGS2 Expression Predicts Amyloid-β Sensitivity, MCI and Alzheimer’s Disease: Genome-Wide Transcriptomic Profiling and Bioinformatics Data Mining
Adva Hadar et al.
Brain deposits of amyloid-β plaques have been considered a pathological hallmark of Alzheimer’s disease (AD), but have also been found in healthy brains. Through genome-wide transcriptomic profiling, this study identified varied expression of the RGS2 gene between healthy individuals and AD patients. It is thought that RGS2 could affect whether Aβ accumulation results in the development of AD. RGS2 is a novel AD biomarker.  
Read news article here

The Unique Evolutionary Signature of Genes Associated with Autism Spectrum Disorder
Erez Tsur et al.
Autism spectrum disorder (ASD) genes are, on average, longer and less variable than non-ASD genes especially in the case of deleterious genetic variations, an indication of negative selection. ASD genes have evolved under complex and unique evolutionary forces, and the signature of such forces could be used to identify new candidate ASD genes.

An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility
Ariel Martinez et al.
The authors look at noncoding elements within the gene ADGRL3, which is thought to be linked to ADHD. They find the first functional evidence of noncoding variants with potential implications for the pathology of ADHD.

Association of a Genetic Risk Score with Body Mass Index Across Different Birth Cohorts
Stefan Walter et al.
Do genetic predispositions to higher body mass index (BMI) have different impacts for people in obesogenic environments? This study finds that the magnitude of association between BMI and genetic risk score for BMI was larger between people born more recently, suggesting that associations between genetic variants for higher BMIs may be modified by obesogenic environments.  
Read responses to this piece here, here and here.  

Cytoplasmic FMR1-Interacting Protein 2 is a Major Genetic Factor Underlying Binge Eating
Stacey Kirkpatrick et al.
Binge eating is a highly heritable trait, and is often comorbid with mood and substance use disorders. This study identifies a major genetic factor underlying binge eating, which offers a behavioral paradigm for future genome wide association studies and has implications for the disorders comorbid with binge eating.  

Behavioral and Molecular Genetics of Reading-Related AM and FM Detection Thresholds
Matthew Bruni et al.
This is the first behavioral and molecular genetic characterization of two auditory traits that are associated with reading in both typically developing and dyslexic readers. It found that one of those traits is genetically correlated with reading, while the other is not.   

Chromosome Conformation Elucidates Regulatory Relationships in Developing Human Brain
Hyejung Won et al.
Gene expression is regulated, in part, by three-dimensional physical interactions within chromosomes. This work provides a framework for understanding these regulatory interactions within noncoding genetic regions.

Mutational Signatures Associated With Tobacco Smoking in Human Cancer
Ludmil B. Alexandrov et al.
Smoking is associated with mutations that increase the risk of at least 17 classes of human cancer. Data from this study support the hypothesis that smoking increases cancer risk by increasing the somatic mutation load, although direct evidence for this mechanism is lacking in some smoking-related cancer types.

Researchers Grow “Frankenstein Ants” to Study Epigenetics
Jeffrey M. Perkel
A molecular biologist ventures into entomology to use genetically modified ants as laboratory models of behavioral epigenetics.