• Publications
  • Influence
A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci
TLDR
A genome-wide association study in a homogenous case-control cohort from Bergen, Norway and evaluated the top 100 single nucleotide polymorphisms (SNPs) in the family-based International COPD Genetics Network found two SNPs at the α-nicotinic acetylcholine receptor (CHRNA 3/5) locus showed unambiguous replication and were significantly associated with lung function in both the ICGN and Boston Early-Onset COPD populations. Expand
Variants in FAM13A are associated with chronic obstructive pulmonary disease
TLDR
A new susceptibility locus at 4q22.1 in FAM13A is identified and replicated in three population cohorts, including 2,940 cases and 1,380 controls who were current or former smokers with normal lung function. Expand
The clinical features of the overlap between COPD and asthma
TLDR
Subjects with COPD and asthma represent a relevant clinical population, with worse health-related quality of life, and experience more frequent and severe respiratory exacerbations despite younger age and reduced lifetime smoking history. Expand
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
TLDR
A new genome-wide significant locus on chromosome 19q13, which includes RAB4B, EGLN2, MIA and CYP2A6, and has previously been identified in association with cigarette smoking behavior is identified. Expand
The clinical and genetic features of COPD-asthma overlap syndrome
TLDR
Overlap subjects have more exacerbations, less emphysema and more airway disease for any degree of lung function impairment compared to COPD alone, and novel genetic variants associated with this syndrome are identified. Expand
Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations.
TLDR
Although some evidence for replication was found for SFTPB and HMOX1, none of the previously published COPD genetic associations was convincingly replicated across both study designs. Expand
Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP.
TLDR
It is found that HHIP expression at both mRNA and protein levels is reduced in COPD lung tissues and a genomic region located ∼85 kb upstream of HHIP which contains a subset of associated SNPs, interacts with the HHIP promoter through a chromatin loop and functions as an HHIP enhancer is identified. Expand
The chronic bronchitic phenotype of COPD: an analysis of the COPDGene Study.
TLDR
CB in patients with COPD is associated with worse respiratory symptoms and higher risk of exacerbations and this group may need more directed therapy targeting chronic mucus production and smoking cessation not only to improve symptoms but also to reduce risk, improve quality of life, and improve outcomes. Expand
The COPD genetic association compendium: a comprehensive online database of COPD genetic associations.
TLDR
Most COPD candidate gene era studies are underpowered to detect moderate-sized genetic effects, and Quantitative meta-analysis identified four variants in GSTM 1, TGFB1, TNF and SOD3 that show statistically significant evidence of association with COPD susceptibility. Expand
Polymorphisms in surfactant protein-D are associated with chronic obstructive pulmonary disease.
TLDR
An association of polymorphisms in SFTPD with COPD in multiple populations is demonstrated and a correlation between SFT PD SNPs and SP-D protein concentrations is demonstrated. Expand
...
1
2
3
4
5
...