An update on the genetics of hyperuricaemia and gout

TJ Major, N Dalbeth, EA Stahl… - Nature Reviews …, 2018 - nature.com
A central aspect of the pathogenesis of gout is elevated urate concentrations, which lead to
the formation of monosodium urate crystals. The clinical features of gout result from an …

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

N Shrine, AG Izquierdo, J Chen, R Packer, RJ Hall… - Nature …, 2023 - nature.com
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and
predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of …

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

N Shrine, AL Guyatt, AM Erzurumluoglu, VE Jackson… - Nature …, 2019 - nature.com
Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive
pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of …

A general approach for haplotype phasing across the full spectrum of relatedness

J O'Connell, D Gurdasani, O Delaneau, N Pirastu… - PLoS …, 2014 - journals.plos.org
Many existing cohorts contain a range of relatedness between genotyped individuals, either
by design or by chance. Haplotype estimation in such cohorts is a central step in many …

Loci Associated with N-Glycosylation of Human Immunoglobulin G Show Pleiotropy with Autoimmune Diseases and Haematological Cancers

G Lauc, JE Huffman, M Pučić, L Zgaga… - PLoS …, 2013 - journals.plos.org
Glycosylation of immunoglobulin G (IgG) influences IgG effector function by modulating
binding to Fc receptors. To identify genetic loci associated with IgG glycosylation, we …

Meta-analysis and imputation refines the association of 15q25 with smoking quantity

JZ Liu, F Tozzi, DM Waterworth, SG Pillai, P Muglia… - Nature …, 2010 - nature.com
Smoking is a leading global cause of disease and mortality. We established the Oxford-
GlaxoSmithKline study (Ox-GSK) to perform a genome-wide meta-analysis of SNP …

Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

AM Erzurumluoglu, M Liu, VE Jackson, DR Barnes… - Molecular …, 2020 - nature.com
Smoking is a major heritable and modifiable risk factor for many diseases, including cancer,
common respiratory disorders and cardiovascular diseases. Fourteen genetic loci have …

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

LA Lange, Y Hu, H Zhang, C Xue, EM Schmidt… - The American Journal of …, 2014 - cell.com
Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for
cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 …

The genetics of obesity and the metabolic syndrome

K L. Monda, K E. North, S C. Hunt… - … Metabolic & Immune …, 2010 - benthamdirect.com
In this review, we discuss the genetic architecture of obesity and the metabolic syndrome,
highlighting recent advances in identifying genetic variants and loci responsible for a portion …

CUBN is a gene locus for albuminuria

CA Böger, MH Chen, A Tin, M Olden… - Journal of the …, 2011 - journals.lww.com
Identification of genetic risk factors for albuminuria may alter strategies for early prevention
of CKD progression, particularly among patients with diabetes. Little is known about the …