Molecular and Genetic Medicine

David R. McWilliams

Publications

• Research Article
  The Role of Copy Number Variation in African Americans with Type 2 Diabetes-Associated End Stage Renal Disease
  Author(s): Jessica N. Cooke Bailey, Lingyi Lu, Jeff W. Chou, Jianzhao Xu, David R. McWilliams, Timothy D. Howard, Barry I. Freedman, Donald W. Bowden, Carl D. Langefeld and Nicholette D. PalmerJessica N. Cooke Bailey, Lingyi Lu, Jeff W. Chou, Jianzhao Xu, David R. McWilliams, Timothy D. Howard, Barry I. Freedman, Donald W. Bowden, Carl D. Langefeld and Nicholette D. Palmer
  
  This study investigated the association of copy number variants (CNVs) in type 2 diabetes (T2D) and T2Dassociated end-stage renal disease (ESRD) in African Americans. Using the Affymetrix 6.0 array, >900,000 CNV probes spanning the genome were interrogated in 965 African Americans with T2D-ESRD and 1029 non-diabetic African American controls. Previously identified and novel CNVs were separately analyzed and were evaluated for insertion/deletion status and then used as predictors in a logistic regression model to test for association. One common CNV insertion on chromosome 1 was significantly associated with T2D-ESRD (p=6.17×10-5, OR=1.63) after multiple comparison correction. This CNV region encompasses the genes AMY2A and AMY2B, which encode amylase isoenzymes produced by the pancreas. Additional common and novel CNVs approaching significance with disease were also detected. .. Read More»
  DOI: 10.4172/1747-0862.1000061

  Abstract PDF