Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
- D. Taliun, Daniel N Harris, G. Abecasis
- 6 March 2019
Combining TOPMed haplotypes with modern imputation methods improves the power and reach of genome-wide association studies to include variants down to a frequency of approximately 0.01%.
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
A genome-wide association study in more than 400,000 individuals identifies 139 new signals for lung function that can predict chronic obstructive pulmonary disease in independent, transancestral cohorts and has potential to improve future preventive and therapeutic strategies for COPD.
Variants in FAM13A are associated with chronic obstructive pulmonary disease
- M. Cho, N. Boutaoui, E. Silverman
- MedicineNature Genetics
- 1 February 2010
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.
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.
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
- M. Cho, P. Castaldi, E. Silverman
- BiologyHuman Molecular Genetics
- 15 February 2012
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.
Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP.
- Xiaobo Zhou, R. Baron, E. Silverman
- BiologyHuman Molecular Genetics
- 15 March 2012
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.
Epidemiology, genetics, and subtyping of preserved ratio impaired spirometry (PRISm) in COPDGene
- E. Wan, P. Castaldi, E. Silverman
- Medicine, PsychologyRespiratory Research
- 6 August 2014
Increased dyspnea, reduced 6-minute walk distance, increased percent emphysema and decreased total lung capacity, as well as increased segmental bronchial wall area percentage were significant predictors of PRISm status when compared to control subjects in multivariate models.
Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies.
- Han Chen, J. Huffman, Xihong Lin
- MathematicsAmerican Journal of Human Genetics
- 7 February 2019
Association Between Interstitial Lung Abnormalities and All-Cause Mortality.
- R. Putman, H. Hatabu, G. Hunninghake
- 16 February 2016
In 4 separate research cohorts, interstitial lung abnormalities were associated with a greater risk of all-cause mortality and the clinical implications of this association require further investigation.
Patterns of Growth and Decline in Lung Function in Persistent Childhood Asthma.
- M. McGeachie, K. Yates, R. Strunk
- MedicineNew England Journal of Medicine
- 11 May 2016
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 airflow…