Genetics

Global Increases in Both Common and Rare Copy Number Load Associated with Autism

Source: 
Human Molecular Genetics
Date Published: 
March 27, 2013
Abstract: 

Penn State researchers link autism to increased genetic change in "hotspots", regions of the genome that are highly susceptible to mutation.

Autism Risk Across Generations A Population-Based Study of Advancing Grandpaternal and Paternal Age

Source: 
JAMA Psychiatry
Date Published: 
March 20, 2013
Abstract: 

Recently published in JAMA Psychiatry, this study put forth a new autism risk factor: advanced grandpaternal age. Compared to men who had children between 20 and 24, men who fathered a child at 50+ were 1-2 times more likely to have a grandchild with autism. The findings suggest some autism risk factors can accumulate over generations.

Tipping the balance of autism risk: potential mechanisms linking pesticides and autism.

Source: 
PubMed
Date Published: 
July 2012
Abstract: 

In animal studies, we encourage more research on gene × environment interactions, as well as experimental exposure to mixtures of compounds. Similarly, epidemiologic studies in humans with exceptionally high exposures can identify which pesticide classes are of greatest concern, and studies focused on gene × environment are needed to determine if there are susceptible subpopulations at greater risk from pesticide exposures.

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Source: 
PubMed
Date Published: 
April 4, 2012
Abstract: 

Results indicate extreme locus heterogeneity but also provide a target for future discovery, diagnostics and therapeutics.

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Source: 
PubMed
Date Published: 
April 4, 2012
Abstract: 

Control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors.

Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder.

Source: 
PubMed
Date Published: 
October 2012
Abstract: 

Results demonstrate a novel paradigm by which specific POPs may predispose to genetic copy number variation of 15q11-q13.

CNVs: harbingers of a rare variant revolution in psychiatric genetics.

Source: 
PubMed
Date Published: 
March 16, 2012
Abstract: 

CNV studies reflects the nature of rare alleles in general and will serve as a guide as we move forward into a new era of whole-genome sequencing.

De Novo Gene Disruptions in Children on the Autistic Spectrum.

Source: 
Neuron
Date Published: 
April 26, 2012
Abstract: 

FMRP-associated genes are under greater purifying selection than the remainder of genes and suggest they are especially dosage-sensitive targets of cognitive disorders.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Source: 
PubMed
Date Published: 
April 2012
Abstract: 

Findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.

Genetic Architecture in Autism Spectrum Disorder.

Source: 
Current Opinion in Genetics and Development
Date Published: 
June 2012
Abstract: 

Biological pathways revealed by the deeper list of ASD genes should narrow the targets for therapeutic intervention.