Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
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 …
associated with complex traits. These associations could reveal the molecular mechanisms …
Impact of genetic polymorphisms on human immune cell gene expression
BJ Schmiedel, D Singh, A Madrigal… - Cell, 2018 - cell.com
While many genetic variants have been associated with risk for human diseases, how these
variants affect gene expression in various cell types remains largely unknown. To address …
variants affect gene expression in various cell types remains largely unknown. To address …
A gene-based association method for mapping traits using reference transcriptome data
Genome-wide association studies (GWAS) have identified thousands of variants robustly
associated with complex traits. However, the biological mechanisms underlying these …
associated with complex traits. However, the biological mechanisms underlying these …
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes
CC Robertson, JRJ Inshaw, S Onengut-Gumuscu… - Nature …, 2021 - nature.com
We report the largest and most diverse genetic study of type 1 diabetes (T1D) to date
(61,427 participants), yielding 78 genome-wide-significant (P< 5× 10− 8) regions, including …
(61,427 participants), yielding 78 genome-wide-significant (P< 5× 10− 8) regions, including …
Type 1 diabetes: etiology, immunology, and therapeutic strategies
TL Van Belle, KT Coppieters… - Physiological …, 2011 - journals.physiology.org
Type 1 diabetes (T1D) is a chronic autoimmune disease in which destruction or damaging of
the beta-cells in the islets of Langerhans results in insulin deficiency and hyperglycemia. We …
the beta-cells in the islets of Langerhans results in insulin deficiency and hyperglycemia. We …
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome
Following a previous genome-wide association study (GWAS 1) including 744 cases and
895 controls, we analyzed genome-wide association data from a new cohort of Han Chinese …
895 controls, we analyzed genome-wide association data from a new cohort of Han Chinese …
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes
Abstract Type 1 diabetes (T1D) is a common autoimmune disorder that arises from the
action of multiple genetic and environmental risk factors. We report the findings of a genome …
action of multiple genetic and environmental risk factors. We report the findings of a genome …
Progress and promise of genome-wide association studies for human complex trait genetics
Enormous progress in mapping complex traits in humans has been made in the last 5 yr.
There has been early success for prevalent diseases with complex phenotypes. These …
There has been early success for prevalent diseases with complex phenotypes. These …
Mapping complex disease traits with global gene expression
Variation in gene expression is an important mechanism underlying susceptibility to
complex disease. The simultaneous genome-wide assay of gene expression and genetic …
complex disease. The simultaneous genome-wide assay of gene expression and genetic …