A brief history of human disease genetics

M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

Gestational diabetes mellitus: mechanisms, treatment, and complications

EC Johns, FC Denison, JE Norman… - Trends in Endocrinology & …, 2018 - cell.com
Gestational diabetes mellitus (GDM) is the most common metabolic disturbance during
pregnancy. The prevalence is rising and correlates with the increase in maternal obesity …

Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

FR Schumacher, AA Al Olama, SI Berndt, S Benlloch… - Nature …, 2018 - nature.com
Genome-wide association studies (GWAS) and fine-mapping efforts to date have identified
more than 100 prostate cancer (PrCa)-susceptibility loci. We meta-analyzed genotype data …

Genetic markers of type 2 diabetes: Progress in genome‐wide association studies and clinical application for risk prediction: 2 型糖尿病的遗传标记: 风险预测的全 …

X Wang, G Strizich, Y Hu, T Wang… - Journal of …, 2016 - Wiley Online Library
摘要2 型糖尿病已经成为全球公共卫生的主要挑战. 迄今为止, 通过全基因组关联研究(genome‐
wide association studies, GWAS) 总共已经鉴定出了83 个2 型糖尿病易感位点. 为了发现2 …

The OncoArray Consortium: a network for understanding the genetic architecture of common cancers

CI Amos, J Dennis, Z Wang, J Byun… - … , biomarkers & prevention, 2017 - AACR
Background: Common cancers develop through a multistep process often including
inherited susceptibility. Collaboration among multiple institutions, and funding from multiple …

Genetics of type 2 diabetes—pitfalls and possibilities

RB Prasad, L Groop - Genes, 2015 - mdpi.com
Type 2 diabetes (T2D) is a complex disease that is caused by a complex interplay between
genetic, epigenetic and environmental factors. While the major environmental factors, diet …

[HTML][HTML] Germline Mutations in HOXB13 and Prostate-Cancer Risk

CM Ewing, AM Ray, EM Lange… - … England Journal of …, 2012 - Mass Medical Soc
Background Family history is a significant risk factor for prostate cancer, although the
molecular basis for this association is poorly understood. Linkage studies have implicated …

Genomics, type 2 diabetes, and obesity

MI McCarthy - New England Journal of Medicine, 2010 - Mass Medical Soc
Genomics, Type 2 Diabetes, and Obesity | New England Journal of Medicine Skip to main content
The New England Journal of Medicine homepage Advanced Search SEARCH SPECIALTIES …

The molecular functions of hepatocyte nuclear factors–In and beyond the liver

HH Lau, NHJ Ng, LSW Loo, JB Jasmen, AKK Teo - Journal of hepatology, 2018 - Elsevier
The hepatocyte nuclear factors (HNFs) namely HNF1α/β, FOXA1/2/3, HNF4α/γ and
ONECUT1/2 are expressed in a variety of tissues and organs, including the liver, pancreas …

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

MI McCarthy, GR Abecasis, LR Cardon… - Nature reviews …, 2008 - nature.com
The past year has witnessed substantial advances in understanding the genetic basis of
many common phenotypes of biomedical importance. These advances have been the result …