From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases

E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …

Epidemiology of bladder cancer: a systematic review and contemporary update of risk factors in 2018

MGK Cumberbatch, I Jubber, PC Black, F Esperto… - European urology, 2018 - Elsevier
Context Bladder cancer (BC) is a significant health problem, and understanding the risk
factors for this disease could improve prevention and early detection. Objective To provide a …

Developing and evaluating polygenic risk prediction models for stratified disease prevention

N Chatterjee, J Shi, M García-Closas - Nature Reviews Genetics, 2016 - nature.com
Abstract Knowledge of genetics and its implications for human health is rapidly evolving in
accordance with recent events, such as discoveries of large numbers of disease …

Updated 2016 EAU guidelines on muscle-invasive and metastatic bladder cancer

JA Witjes, T Lebret, EM Compérat, NC Cowan… - European urology, 2017 - Elsevier
Context Invasive bladder cancer is a frequently occurring disease with a high mortality rate
despite optimal treatment. The European Association of Urology (EAU) Muscle-invasive and …

The UDP-glycosyltransferase (UGT) superfamily: new members, new functions, and novel paradigms

R Meech, DG Hu, RA McKinnon… - Physiological …, 2019 - journals.physiology.org
UDP-glycosyltransferases (UGTs) catalyze the covalent addition of sugars to a broad range
of lipophilic molecules. This biotransformation plays a critical role in elimination of a broad …

Genome-wide association studies of cancer: current insights and future perspectives

A Sud, B Kinnersley, RS Houlston - Nature Reviews Cancer, 2017 - nature.com
Genome-wide association studies (GWAS) provide an agnostic approach for investigating
the genetic basis of complex diseases. In oncology, GWAS of nearly all common …

Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction

L Kachuri, RE Graff, K Smith-Byrne, TJ Meyers… - Nature …, 2020 - nature.com
Cancer risk is determined by a complex interplay of environmental and heritable factors.
Polygenic risk scores (PRS) provide a personalized genetic susceptibility profile that may be …

Genetic epidemiology and insights into interactive genetic and environmental effects in autism spectrum disorders

YS Kim, BL Leventhal - Biological psychiatry, 2015 - Elsevier
Understanding the pathogenesis of neurodevelopmental disorders has proven to be
challenging. Using autism spectrum disorder (ASD) as a paradigmatic neurodevelopmental …

Current challenges and new opportunities for gene-environment interaction studies of complex diseases

K McAllister, LE Mechanic, C Amos… - American journal of …, 2017 - academic.oup.com
Recently, many new approaches, study designs, and statistical and analytical methods have
emerged for studying gene-environment interactions (G× Es) in large-scale studies of …

Impact of gene–environment interactions on cancer development

A Mbemi, S Khanna, S Njiki, CG Yedjou… - International journal of …, 2020 - mdpi.com
Several epidemiological and experimental studies have demonstrated that many human
diseases are not only caused by specific genetic and environmental factors but also by gene …