The Collaborative Study on the Genetics of Alcoholism: Overview

A Agrawal, SJ Brislin, KK Bucholz… - Genes, Brain and …, 2023 - Wiley Online Library
Alcohol use disorders (AUD) are commonly occurring, heritable and polygenic disorders
with etiological origins in the brain and the environment. To outline the causes and …

5. Collaborative study on the genetics of alcoholism: functional genomics

I Gameiro‐Ros, D Popova, I Prytkova… - Genes, Brain and …, 2023 - Wiley Online Library
Abstract Alcohol Use Disorder is a complex genetic disorder, involving genetic, neural, and
environmental factors, and their interactions. The Collaborative Study on the Genetics of …

Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome

X Jia, T Yamamura, R Gbadegesin, MT McNulty… - Kidney international, 2020 - Elsevier
To understand the genetics of steroid-sensitive nephrotic syndrome (SSNS), we conducted a
genome-wide association study in 987 childhood SSNS patients and 3,206 healthy controls …

Gene-based polygenic risk scores analysis of alcohol use disorder in African Americans

D Lai, TH Schwantes-An, M Abreu, G Chan… - Translational …, 2022 - nature.com
Genome-wide association studies (GWAS) in admixed populations such as African
Americans (AA) have limited sample sizes, resulting in poor performance of polygenic risk …

Mistranslation drives alterations in protein levels and the effects of a synonymous variant at the fibroblast growth factor 21 locus

A Bayoumi, A Elsayed, S Han, S Petta… - Advanced …, 2021 - Wiley Online Library
Abstract Fibroblast growth factor 21 (FGF21) is a liver‐derived hormone with pleiotropic
beneficial effects on metabolism. Paradoxically, FGF21 levels are elevated in metabolic …

Genome-and transcriptome-wide splicing associations with alcohol use disorder

SB Huggett, AS Ikeda, Q Yuan, CE Benca-Bachman… - Scientific Reports, 2023 - nature.com
Genetic mechanisms of alternative mRNA splicing have been shown in the brain for a
variety of neuropsychiatric traits, but not substance use disorders. Our study utilized RNA …

Recombination affects allele-specific expression of deleterious variants in human populations

MP Harwood, I Alves, H Edgington, M Agbessi… - Science …, 2022 - science.org
How the genetic composition of a population changes through stochastic processes, such as
genetic drift, in combination with deterministic processes, such as selection, is critical to …

Allele-specific expression analysis for complex genetic phenotypes applied to a unique dilated cardiomyopathy cohort

D van Beek, J Verdonschot, K Derks, H Brunner… - Scientific Reports, 2023 - nature.com
Allele-specific expression (ASE) analysis detects the relative abundance of alleles at
heterozygous loci as a proxy for cis-regulatory variation, which affects the personal …

Assessing the role of long noncoding RNA in nucleus accumbens in subjects with alcohol dependence

J Drake, GO McMichael, ES Vornholt… - Alcoholism: Clinical …, 2020 - Wiley Online Library
Background Long noncoding RNA (lncRNA) have been implicated in the etiology of alcohol
use. Since lncRNA provide another layer of complexity to the transcriptome, assessing their …

Mapping the miRNA‐mRNA interactome in human hepatocytes and identification of functional mirSNPs in pharmacogenes

NR Powell, H Zhao, J Ipe, Y Liu… - Clinical Pharmacology & …, 2021 - Wiley Online Library
MiRNAs regulate the expression of hepatic genes involved in pharmacokinetics and
pharmacodynamics. Genetic variants affecting miRNA binding (mirSNPs) have been …