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Human Molecular Genetics Advance Access originally published online on August 7, 2006
Human Molecular Genetics 2006 15(18):2701-2708; doi:10.1093/hmg/ddl203
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© The Author 2006. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Analysis of epistasis for diabetic nephropathy among type 2 diabetic patients

Chang-Hsun Hsieh1,{dagger}, Kung-Hao Liang2,*,{dagger}, Yi-Jen Hung1, Li-Chin Huang2, Dee Pei3, Ya-Tang Liao2, Shi-Wen Kuo3, Monica Shian-Jy Bey2, Jui-Lin Chen2 and Ellson Y. Chen2

1 Division of Endocrinology and Metabolism, Department of Internal Medicine, Tri-Service General Hospital, Taipei, Taiwan, 2 Vita Genomics Inc., Taiwan and 3 Department of Internal Medicine, Xindian Buddhist Tzu Chi Hospital, Taipei, Taiwan

* To whom correspondence should be addressed at: Vita Genomics Inc., 7F, No. 6, Sec. 1, Jungshing Road., Wugu Shiang, Taipei County, 248 Taiwan. Tel: +886 289769123 ext. 7702; Fax: +886 289769523; Email: kunghao.liang{at}vitagenomics.com

Received May 9, 2006; Accepted July 28, 2006

Diabetic nephropathy (DN) is one of the most serious complications of diabetes, accounting for the majority of patients with end-stage renal disease. The molecular pathogenesis of DN involves multiple pathways in a complex, partially resolved manner. The paper presents an exploratory epistatic study for DN. 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 and the genetic algorithm with Boolean algebra. A two-locus epistatic effect of EGFR and RXRG was identified, with a cross-validation consistency of 91.7%.

{dagger} The authors wish it to be known that, in their opinion, the first 2 authors should be regarded as joint First Authors.


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