17 Result(s)

Article

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

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 European ancestry, we define 2...

Nick Shrine, Anna L. Guyatt, A. Mesut Erzurumluoglu, Victoria E. Jackson… in Nature Genetics (2019)

Article

Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations

Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed a genome-wide association st...

Phuwanat Sakornsakolpat, Dmitry Prokopenko, Maxime Lamontagne… in Nature Genetics (2019)

Article

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538 controls) of individuals from ethnically diverse popu...

Florence Demenais, Patricia Margaritte-Jeannin, Kathleen C. Barnes… in Nature Genetics (2018)

Article

Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis

Michael Cho and colleagues report a genome-wide association study of risk for chronic obstructive pulmonary disease (COPD) in a large, multi-ancestry cohort. They identify 22 genome-wide significant loci, incl...

Brian D Hobbs, Kim de Jong, Maxime Lamontagne, Yohan Bossé, Nick Shrine… in Nature Genetics (2017)

Article

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

Louise Wain, Ian Hall, Martin Tobin and colleagues report genome-wide association analyses of lung function, identifying 43 new signals associated with one or more lung function traits. A genetic risk score de...

Louise V Wain, Nick Shrine, María Soler Artigas, A Mesut Erzurumluoglu… in Nature Genetics (2017)

Article

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

Elisabeth Mangold and colleagues report a genome-wide meta-analyses of non-syndromic cleft lip with or without cleft palate (NSCL/P). They report six new genetic loci associated with risk for NSCL/P.

Kerstin U Ludwig, Elisabeth Mangold, Stefan Herms, Stefanie Nowak… in Nature Genetics (2012)

Article

Detectable clonal mosaicism from birth to old age and its relationship to cancer

Cathy Laurie and colleagues detect mosaicism for large chromosomal abnormalities in peripheral blood in a subset of healthy individuals. They show that the frequency of such events increases with age and is as...

Cathy C Laurie, Cecelia A Laurie, Kenneth Rice, Kimberly F Doheny… in Nature Genetics (2012)

Article

Recombination rates in admixed individuals identified by ancestry-based inference

John Novembre and colleagues present a new approach for constructing recombination maps based on ancestry switch points among individuals. They construct a high-resolution genome-wide recombination map based o...

Daniel Wegmann, Darren E Kessner, Krishna R Veeramah, Rasika A Mathias… in Nature Genetics (2011)

Article

Cleft lip and palate: understanding genetic and environmental influences

Article

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

Terri Beaty and colleagues report a genome-wide association study of cleft lip with/without cleft palate. They identified variants near MAFB and ABCA4 associated with risk of this birth defect in case-parent trio...

Terri H Beaty, Jeffrey C Murray, Mary L Marazita, Ronald G Munger… in Nature Genetics (2010)

Article

Variants in FAM13A are associated with chronic obstructive pulmonary disease

Michael Cho and colleagues report a genome-wide association study for chronic obstructive pulmonary disease, identifying a susceptibility locus at chromosome 4q22.1 in FAM13A.

Michael H Cho, Nadia Boutaoui, Barbara J Klanderman, Jody S Sylvia… in Nature Genetics (2010)

Article

Spouse controls in family case-control studies: a methodological consideration

In case-control studies on familial aggregation of disease, spouses may be chosen as convenient controls. In this article the pros and cons of this control group are discussed. It is argued that the use of spo...

Bas A. J. Verhage, Katja K. H. Aben, Huub Straatman, André L. M. Verbeek… in Familial Cancer (2003)