Studies
CDNM Cohorts
(PI: M. Stampfer) began in 1976 with the enrollment of 121,000 female nurses, ages 30-55.
(PIs: W. Willett and H. Eliassen) joint study between Channing Division of Network Medicine and Harvard T.H. Chan School of Public Health, began in 1989 with the enrollment of 117,000 nurses, ages 25-42.
Joint between Channing Division of Network Medicine and Harvard T.H. Chan School of Public Health, began in 2010 under the direction of Dr. Walter Willett, Janet Rich-Edwards, Stacey Missmer, and Jorge Chavarro. For the first time ever, the study is entirely web-based. Participants include female and male LPN/Licensed Vocational Nurses (LVNs) and RNs, as well as nursing students, ages 20-46. NHS3 is also open to nurses in Canada.
(PI: W. Willett) based primarily at Harvard T.H. Chan School of Public Health, began in 1986, and enrolled 52,000 male health professionals, ages 40-75.
Established in 1996, follows over 26,000 offspring of women in the Nurses’; Health Study II. In 1996, 16,882 children were enrolled in GUTS I, and 10,923 children were enrolled in GUTS II in 2004.
COPD Study Populations
Enrolls subjects with severe COPD (FEV1 < 40% predicted) at an early age ( < 53 years) without alpha-1 antitrypsin deficiency (a known Mendelian risk factor for COPD). Extended pedigrees are enrolled, primarily in New England, although some more geographically distant subjects have been included. This study has been used for epidemiological studies, familial aggregation analysis, linkage analysis, and association analysis. DNA methylation studies have been performed in a subset of subjects. Whole exome or whole genome sequences have been obtained in more than 700 members of these pedigrees.
This study enrolled sibships through a COPD proband at 10 clinical centers in the U.S. and Europe. This study has been used for epidemiological studies and association analysis. DNA methylation studies have been performed in a subset of subjects. We have received NIH funding to obtain whole genome sequences in more than 300 members of these pedigrees.
NETT was a randomized clinical trial comparing lung volume reduction surgery to usual medical care. We received DNA samples from approximately 400 NETT participants. This study has been used for candidate gene and genome-wide association studies.
We have collaborated closely with investigators in Norway on the GENKOLS study of COPD. This study has been used for epidemiological analysis, candidate gene association studies, and genome-wide association studies.
ECLIPSE is a longitudinal study of COPD subjects and a small number of smoking control subjects that were followed regularly for 3 years, including 3 chest CT scans. This study has been used for epidemiological analyses and genome-wide association studies. Through the TOPMed program of the NHLBI, whole genome sequencing is being performed on the ECLIPSE COPD cases and controls.
Severe COPD cases and healthy control subjects were enrolled in both Poland and Korea for genetic studies.
Asthma Study Populations
The Childhood Asthma Management Program (CAMP) started as a longitudinal clinical trial of mild-to-moderate persistent asthma. A group of 1,041 children aged 5-12 at entry was initially followed for an average of 4.5 years and treated with asthma medications in three arms: nedocromil, budesonide, and as needed beta agonist. There are over 1,000 clinical phenotypic variables, and the subjects have now been followed for 16 years. DNA and RNA samples are available on most subjects. Serum is also stored.
Initially, 1,200 trios were collected to mirror the CAMP protocol and selection criteria. A set of 8 extended pedigrees were also collected, and both DNA and RNA on whole blood and serum are stored.
This is a collection of asthmatic subjects from over 20 NHLBI asthma clinical trials in both children and adults. Extensive phenotypic data are available with treatment response, lung function, and medication use. Many subjects have bronchodilator and bronchoconstrictor testing. DNA is available on all and RNA on a subset through ABRIDGE. Serum is also available.
This is a collection of over 6,000 child and adult asthmatics from across the US. GWAS genotype data are available. DNA and RNA samples are available on a subset through ABRIDGE (see below).
This population is a subset of EVE in which DNA and RNA were collected; most have CD4 cells stimulated and unstimulated with antigen. There are about 100 lung tissue RNA samples and 200 expectorated sputum RNA samples; all subjects have CD4 cells and whole blood RNA and DNA.
This is a randomized controlled trial of vitamin D given to 900 pregnant women beginning between 12-18 weeks of pregnancy, with follow-up of their children to see if they develop asthma. Longitudinal DNA and RNA have been collected on the mother and will be collected on the infant as well. Intestinal microbiome samples are being longitudinally collected. Multiple serum samples are available on both mother and infant.
16,000 asthmatics and matched controls with DNA samples on all subjects and detailed information from the electronic medical record at Mass General Brigham. Useful for checking the relevance of any genetic findings in other populations and for assessing the relationship of genomics to health outcomes such as drug treatment, hospitalizations, and emergency room visits.
This is a birth cohort of 1,000 mothers, fathers, and children followed from early pregnancy until age 16 to assess the relationship of early-life allergen exposure on asthma development. Peripheral blood lymphocytes have been stimulated with a variety of environmental antigens, and RNA obtained. Cytokines have been measured on these samples. The environmental microbiome is also being measured.
Over 500 human fetal lung samples and over 1,000 mouse lung samples have had RNA extracted and arrayed to assess the gene expression signature of the developing fetal lung. While the human samples lack detailed information on most environmental exposures, all samples have had cotinine assayed to determine if mothers smoked during pregnancy and the effects of maternal smoking on the transcriptomic signature of the developing lung. DNA is also available and is being used to define the eQTLs of the developing lung.