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Open AccessGenetic diversity fuels gene discovery for tobacco and alcohol use
Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury1–4. These substances are used across the...
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Article
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 6...
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Acute Alcoholic Hepatitis
Alcoholic hepatitis (AH) is a clinical syndrome characterized by the sudden development of jaundice in the setting of heavy alcohol use. In addition to jaundice, complications of end-stage liver disease such a...
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Article
Open AccessInternational meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci
The risk of posttraumatic stress disorder (PTSD) following trauma is heritable, but robust common variants have yet to be identified. In a multi-ethnic cohort including over 30,000 PTSD cases and 170,000 contr...
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Article
Genome-wide association study identifies 30 loci associated with bipolar disorder
Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study (GWAS) including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 v...
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Article
Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use
Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders1. They are heritable2,3 and etiologically related4,5 behaviors that have been resistant to gene ...
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Article
Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders
Liability to alcohol dependence (AD) is heritable, but little is known about its complex polygenic architecture or its genetic relationship with other disorders. To discover loci associated with AD and charact...
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Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression
Major depressive disorder (MDD) is a common illness accompanied by considerable morbidity, mortality, costs, and heightened risk of suicide. We conducted a genome-wide association meta-analysis based in 135,45...
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Open AccessA putative causal relationship between genetically determined female body shape and posttraumatic stress disorder
The nature and underlying mechanisms of the observed increased vulnerability to posttraumatic stress disorder (PTSD) in women are unclear.
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Article
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
Here 106 genomic loci associated with age at menarche, a marker of puberty timing in females, are identified; these loci show enrichment for genes involved in nuclear hormone receptor function, body mass index...
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Open AccessApplication of noncollapsing methods to the gene-based association test: a comparison study using Genetic Analysis Workshop 18 data
Rare variants have been proposed to play a significant role in the onset and development of common diseases. However, traditional analysis methods have difficulties in detecting association signals for rare ca...
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Open AccessA ν-support vector regression based approach for predicting imputation quality
Decades of genome-wide association studies (GWAS) have accumulated large volumes of genomic data that can potentially be reused to increase statistical power of new studies, but different genoty** platforms ...
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Article
The Aggregate Effect of Dopamine Genes on Dependence Symptoms Among Cocaine Users: Cross-Validation of a Candidate System Scoring Approach
Genome-wide studies of psychiatric conditions frequently fail to explain a substantial proportion of variance, and replication of individual SNP effects is rare. We demonstrate a selective scoring approach, in...
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Open AccessChallenges and directions: an analysis of Genetic Analysis Workshop 17 data by collapsing rare variants within family data
Recent studies suggest that the traditional case-control study design does not have sufficient power to discover rare risk variants. Two different methods—collapsing and family data—are suggested as alternativ...
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Article
CT Portography with Gastric Variceal Volume Measurements in the Evaluation of Endoscopic Therapeutic Efficacy of Tissue Adhesive Injection into Gastric Varices: A Pilot Study
N-butyl-2-cyanoacrylate (NBCA) injection is used for treating gastric varices (GV). Determining the degree of obliteration of GV is not readily evident at endoscopy.
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Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
Ken Ong and colleagues report meta-analysis of 32 genome-wide association studies for age at menarche. They identify 30 loci newly associated with age at menarche, including four that were previously associate...
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Article
Functional impact of global rare copy number variation in autism spectrum disorders
The autism spectrum disorders (ASDs) are a group of conditions typically characterized by repetitive behaviour, severely restricted interests and difficulties with social interactions and communication. ASDs a...
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Article
Open AccessIn search of causal variants: refining disease association signals using cross-population contrasts
Genome-wide association (GWA) using large numbers of single nucleotide polymorphisms (SNPs) is now a powerful, state-of-the-art approach to map** human disease genes. When a GWA study detects association bet...
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Article
A Cholinergic Receptor Gene (CHRM2) Affects Event-related Oscillations
We report genetic linkage and association findings which implicate the gene encoding the muscarinic acetylcholine receptor M2 (CHRM2) in the modulation of a scalp-recorded electrophysiological phenotype. The P3 (...
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Open AccessGenetic analysis of the maximum drinks phenotype
Using data provided by the Collaborative Study on the Genetics of Alcoholism we studied the genetics of a quantitative trait: the maximum number of drinks consumed in a 24-hour period. A two-stage method was u...
