Fine-mapping and molecular characterisation of primary sclerosing cholangitis genetic risk loci

EC Goode, L Fachal, N Panousis, L Moutsianas… - Nature …, 2024 - nature.com
Genome-wide association studies of primary sclerosing cholangitis have identified 23
susceptibility loci. The majority of these loci reside in non-coding regions of the genome and …

The eQTL colocalization and transcriptome-wide association study identify potentially causal genes responsible for economic traits in Simmental beef cattle

W Cai, Y Zhang, T Chang, Z Wang, B Zhu… - Journal of Animal …, 2023 - Springer
Background A detailed understanding of genetic variants that affect beef merit helps
maximize the efficiency of breeding for improved production merit in beef cattle. To prioritize …

Diverse environmental perturbations reveal the evolution and context-dependency of genetic effects on gene expression levels

AJ Lea, J Peng, JF Ayroles - Genome Research, 2022 - genome.cshlp.org
There is increasing appreciation that, in addition to being shaped by an individual's
genotype and environment, most complex traits are also determined by poorly understood …

Gaining insight into metabolic diseases from human genetic discoveries

M Claussnitzer, K Susztak - Trends in Genetics, 2021 - cell.com
Human large-scale genetic association studies have identified sequence variations at
thousands of genetic risk loci that are more common in patients with diverse metabolic …

Stem cell models for context-specific modeling in psychiatric disorders

C Seah, LM Huckins, KJ Brennand - Biological Psychiatry, 2023 - Elsevier
Genome-wide association studies reveal the complex polygenic architecture underlying
psychiatric disorder risk, but there is an unmet need to validate causal variants, resolve their …

Immune-response 3′ UTR alternative polyadenylation quantitative trait loci contribute to variation in human complex traits and diseases

L Li, X Ma, Y Cui, M Rotival, W Chen, X Zou… - Nature …, 2023 - nature.com
Genome-wide association studies (GWASs) have identified thousands of non-coding
variants that are associated with human complex traits and diseases. The analysis of such …

Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling

C Lundtoft, P Pucholt, J Imgenberg-Kreuz… - PLoS …, 2020 - journals.plos.org
Interferons (IFNs) are cytokines that are central to the host defence against viruses and other
microorganisms. If not properly regulated, IFNs may contribute to the pathogenesis of …

Genetic insights into smooth muscle cell contributions to coronary artery disease

D Wong, AW Turner, CL Miller - Arteriosclerosis, thrombosis, and …, 2019 - Am Heart Assoc
Coronary artery disease is a complex cardiovascular disease involving an interplay of
genetic and environmental influences over a lifetime. Although considerable progress has …

Cytokine responses in nonlesional psoriatic skin as clinical predictor to anti-TNF agents

LC Tsoi, MT Patrick, S Shuai, MK Sarkar, S Chi… - Journal of Allergy and …, 2022 - Elsevier
Background A major issue with the current management of psoriasis is our inability to predict
treatment response. Objective Our aim was to evaluate the ability to use baseline molecular …

A plausibly causal functional lupus-associated risk variant in the STAT1–STAT4 locus

ZH Patel, X Lu, D Miller, CR Forney… - Human molecular …, 2018 - academic.oup.com
Systemic lupus erythematosus (SLE or lupus)(OMIM: 152700) is a chronic autoimmune
disease with debilitating inflammation that affects multiple organ systems. The STAT1 …