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Variants in FAM13A are associated with chronic obstructive pulmonary disease
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
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
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
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
Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP.
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
Patterns of Growth and Decline in Lung Function in Persistent Childhood Asthma.
BACKGROUND Tracking longitudinal measurements of growth and decline in lung function in patients with persistent childhood asthma may reveal links between asthma and subsequent chronic airflowExpand
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
The nearly complete catalog of genetic variation in TOPMed studies provides unique opportunities for exploring the contributions of rare and non-coding sequence variants to phenotypic variation as well as resources and early insights from the sequence data. Expand
The COPD genetic association compendium: a comprehensive online database of COPD genetic associations.
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
Systemic soluble receptor for advanced glycation endproducts is a biomarker of emphysema and associated with AGER genetic variants in patients with chronic obstructive pulmonary disease.
Lower circulating sRAGE levels are associated with emphysema severity and genetic polymorphisms in the AGER locus are associated as a biomarker of diffusing capacity of carbon monoxide and lung density in the TESRA cohort. Expand
The association of genome-wide significant spirometric loci with chronic obstructive pulmonary disease susceptibility.
Thirty-two single-nucleotide polymorphisms (SNPs) in or near 17 genes in 11 previously identified GWS spirometric genomic regions were tested for association with COPD status in data from four COPD case-control studies, and three loci showed evidence of association with CopD susceptibility at a 5% false discovery rate. Expand
Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation
Cluster analysis may identify meaningful disease subtypes and/or groups of related phenotypic variables even in a highly selected group of severe emphysema subjects, and may be useful for genetic association studies. Expand