Estimating cell-type-specific DNA methylation effects in heterogeneous cellular populations.

To develop a method for estimating cell-specific effects in epigenomic association studies in the presence of cell type heterogeneity. We utilized Monte Carlo Expectation-Maximization algorithm with Metropolis-Hastings sampler to reconstruct the 'missing' cell-specific methylations and to estimate their associations with phenotypes free of confounding by cell type proportions. Simulations showed reliable performance of the method under various settings including when the cell type is rare.

Interactive effect between ATPase-related genes and early-life tobacco smoke exposure on bronchial hyper-responsiveness detected in asthma-ascertained families.

Background: A positional cloning study of bronchial hyper-responsiveness (BHR) at the 17p11 locus in the French Epidemiological study on the Genetics and Environment of Asthma (EGEA) families showed significant interaction between early-life environmental tobacco smoke (ETS) exposure and genetic variants located in . This gene encodes the heavy chain subunit of axonemal dynein, which is involved with ATP in the motile cilia function.Our goal was to identify genetic variants at other genes interacting with ETS in BHR by investigating all genes belonging to the '' and '' pathways which include are targets of cigarette smoke and play a crucial role in the airway inflammation.

A novel role for ciliary function in atopy: ADGRV1 and DNAH5 interactions.

Background: Atopy, an endotype underlying allergic diseases, has a substantial genetic component.

Objective: Our goal was to identify novel genes associated with atopy in asthma-ascertained families.

Methods: We implemented a 3-step analysis strategy in 3 data sets: the Epidemiological Study on the Genetics and Environment of Asthma (EGEA) data set (1660 subjects), the Saguenay-Lac-Saint-Jean study data set (1138 subjects), and the Medical Research Council (MRC) data set (446 subjects).