ANALYSIS OF EPISTASIS FOR DIABETIC NEPHROPATHY AMONG
TYPE 2 DIABETIC PATIENTS
Hsieh, 2Kung-Hao Liang, 1Yi-Jen Hung, 2Li-Chin
Huang, 3Dee Pei, 2Ya-Tang Liao, 3Shi-Wen Kuo, 2Monica
Shian-Jy Bey, 2Jui-Lin Chen and 2Ellson Y.
1Division of Endocrinology and
Metabolism, Department of Internal Medicine, Tri-Service General Hospital,
Taipei, Taiwan, 2Vita Genomics Inc., Taiwan and 3 Division of Endocrinology and
Metabolism, Department of Internal Medicine, Xindian Buddhist Tzu Chi Hospital,
Background: 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 DN involves multiple pathways in a complex, partially resolved manner.
Material and Method: 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 and
the genetic algorithm with Boolean algebra.
Results: A two-locus epistatic
effect of epidermal growth factor receptor (EGFR) and retinoid X receptor,
gamma (RXRG) genes was identified, with a cross-validation consistency of
Conclusion: Our initial findings on the epistatic effect of EGFR and RXRG may lead toward detailed views on the pathophysiological mechanism of diabetic nephropathy, and potential points for clinical intervention.