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Human Molecular Genetics Advance Access published online on August 7, 2006
Human Molecular Genetics, doi:10.1093/hmg/ddl203
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© The Author 2006. Published by Oxford University Press. All rights reserved
Received May 9, 2006
Revised July 28, 2006
Accepted July 28, 2006

Article

Analysis of Epistasis for Diabetic Nephropathy among Type 2 Diabetic Patients

Chang-Hsun Hsieh 1, Kung-Hao Liang 2 *, Yi-Jen Hung 1, Li-Chin Huang 3, Dee Pei 4, Ya-Tang Liao 3, Shi-Wen Kuo 4, Monica Shian-Jy Bey 3, Jui-Lin Chen 3, and Ellson Y. Chen 3

1 Division of Endocrinology and Metabolism, Department of Internal Medicine, Tri-Service General Hospital, Taipei, Taiwan
2 Vita Genomics Inc., 7F, No.6, Sec.1, Jungshing Rd., Wugu Shiang, Taipei County, 248 Taiwan
3 Vita Genomics Inc., Taiwan
4 Department of Internal Medicine, Xindian Buddhist Tzu Chi Hospital, Taipei, Taiwan

* To whom correspondence should be addressed.
Kung-Hao Liang, E-mail: kunghao.liang{at}vitagenomics.com


  Abstract

Diabetic nephropathy is one of the most serious complications of diabetes, accounting for the majority of patients with end stage renal disease. The molecular pathogenesis of diabetic nephropathy involves multiple pathways in a complex, partially resolved manner. The paper presents an exploratory epistatic study for diabetic nephropathy. Association analysis were performed on 231 SNP loci in a cohort of 264 type 2 diabetes patients, followed by the epistasis analysis using the multifactor dimensionality reduction (MDR) and the genetic algorithm with Boolean algebra (GABA). A two-locus epistatic effect of EGFR and RXRG was identified, with a cross-validation consistency of 91.7%.


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