Application of a rank-based genetic association test to age-at-onset data from the Collaborative Study on the Genetics of Alcoholism study.
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2005-12-30
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Abstract
Association studies of quantitative traits have often relied on methods in which a normal distribution of the trait is assumed. However, quantitative phenotypes from complex human diseases are often censored, highly skewed, or contaminated with outlying values. We recently developed a rank-based association method that takes into account censoring and makes no distributional assumptions about the trait. In this study, we applied our new method to age-at-onset data on ALDX1 and ALDX2. Both traits are highly skewed (skewness > 1.9) and often censored. We performed a whole genome association study of age at onset of the ALDX1 trait using Illumina single-nucleotide polymorphisms. Only slightly more than 5% of markers were significant. However, we identified two regions on chromosomes 14 and 15, which each have at least four significant markers clustering together. These two regions may harbor genes that regulate age at onset of ALDX1 and ALDX2. Future fine mapping of these two regions with densely spaced markers is warranted.
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Li, YJ, ER Martin, L Zhang and AS Allen (2005). Application of a rank-based genetic association test to age-at-onset data from the Collaborative Study on the Genetics of Alcoholism study. BMC Genet, 6 Suppl 1. p. S53. 10.1186/1471-2156-6-S1-S53 Retrieved from https://hdl.handle.net/10161/10631.
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Scholars@Duke
Yi-Ju Li
My primary research areas include statistical genetics and the genetic investigation of human complex diseases and clinical outcomes. As the group leader of the Biostatistics and Clinical Outcome Group in the Department of Anesthesiology, I also have extensive experience in clinical research, applying both classical statistical modeling and modern machine learning methods to analyze clinical data. Below is a list of my research topics:"
- Statistical genetics: development statistical methods for different genetic data and phenotypic measures
- Genetics of Alzheimer's disease (AD) and age-at-onset (AAO) of AD
- Genetics of Fuchs endothelial corneal dystrophy (FECD)
- Genetic and HLA association for drug induced liver injury (DILI)
- Genetic and clinical research of postoperative outcomes, such as postoperative acute kidney injury, cognitive dysfunction, delirium, etc.
- Biomarker research for osteoarthritis (OA) and its progression
Andrew Scott Allen
My research focuses on developing new statistical methods for identifying susceptibility loci involved in complex human disease. It involves a mix of genetics, statistics, and computer science and is motivated by the complexities of real data encountered in collaborative disease-gene mapping projects.
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