Search Our Scientific Publications & Authors

Genet Epidemiol 2022 Jun 29. Epub 2022 Jun 29.

University of Minnesota, Division of Biostatistics, School of Public Health, Minneapolis, Minnesota, USA.

Transcriptome-Wide Association Studies (TWASs) have become increasingly popular in identifying genes (or other endophenotypes or exposures) associated with complex traits. In TWAS, one first builds a predictive model for gene expressions using an expression quantitative trait loci (eQTL) data set in stage 1, then tests the association between the predicted gene expression and a trait based on a large, independent genome-wide association study (GWAS) data set in stage 2. However, since the sample size of the eQTL data set is usually small and the coefficient of multiple determination (i. Read More

Diabetologia 2022 Jun 28. Epub 2022 Jun 28.

Programs in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Aims/hypothesis: Diabetic kidney disease (DKD) is the leading cause of kidney failure and has a substantial genetic component. Our aim was to identify novel genetic factors and genes contributing to DKD by performing meta-analysis of previous genome-wide association studies (GWAS) on DKD and by integrating the results with renal transcriptomics datasets.

Methods: We performed GWAS meta-analyses using ten phenotypic definitions of DKD, including nearly 27,000 individuals with diabetes. Read More

Bioinform Adv 2022 13;2(1):vbac047. Epub 2022 Jun 13.

Division of Medical Oncology, Norris Comprehensive Cancer Center, Keck School of Medicine of USC, Los Angeles, CA 90033, USA.

Motivation: Approaches that control error by applying a priori fixed discovery thresholds such as 0.05 limit the ability of investigators to identify and publish weak effects even when evidence suggests that such effects exist. However, current false discovery rate (FDR) estimation methods lack a principled approach for identification of discovery thresholds other than 0. Read More

Genes (Basel) 2022 Jun 13;13(6). Epub 2022 Jun 13.

Department of Epidemiology, Unit of Genetic Epidemiology and Bioinformatics, University of Groningen, UMCG, Hanzeplein 1, 9713 GZ Groningen, The Netherlands.

Background: Primary open-angle glaucoma (POAG) is the most prevalent glaucoma subtype, but its exact etiology is still unknown. In this study, we aimed to prioritize the most likely 'causal' genes and identify functional characteristics and underlying biological pathways of POAG candidate genes.

Methods: We used the results of a large POAG genome-wide association analysis study from GERA and UK Biobank cohorts. Read More

BMC Med 2022 Jun 22;20(1):214. Epub 2022 Jun 22.

Department of Biostatistics, School of Public Health, Cheeloo College of Medicine, Shandong University, Jinan, 250012, Shandong, China.

Background: The current genome-wide association study (GWAS) of Lewy body dementia (LBD) suffers from low power due to a limited sample size. In addition, the genetic determinants underlying LBD and the shared genetic etiology with Alzheimer's disease (AD) and Parkinson's disease (PD) remain poorly understood.

Methods: Using the largest GWAS summary statistics of LBD to date (2591 cases and 4027 controls), late-onset AD (86,531 cases and 676,386 controls), and PD (33,674 cases and 449,056 controls), we comprehensively investigated the genetic basis of LBD and shared genetic etiology among LBD, AD, and PD. Read More