Key result
A three-locus gene-gene interaction model involving ACE I/D, ACE G2350A, and CYP11B2 C-344T polymorphisms predicted end-stage renal disease risk with a maximum testing accuracy of 56.08%.
Why the study?
Are RAAS gene SNPs and their interactions associated with end-stage renal disease susceptibility in a Han Chinese population?
Case-Control (n=1,291)
Are RAAS gene SNPs and their interactions associated with end-stage renal disease susceptibility in a Han Chinese population?
Gene-gene interactions among RAAS polymorphisms (ACE I/D, ACE G2350A, and CYP11B2 C-344T) are significant predictors of end-stage renal disease development in the Han Chinese population.
Gene-gene interactions among RAAS variants may associate with ESRD susceptibility in Han Chinese; hypothesis-generating and requires prospective validation.
OBJECTIVE: In this study, we investigated whether RAAS gene single nucleotide polymorphisms (SNPs) and their interactions were associated with end-stage renal stage (ESRD). METHODOLOGY AND RESULTS: This was a case-control study for 647 ESRD cases and 644 controls. AGT (M235T (rs699) and T174M (rs4762)), AGTR1 (A1166C (rs5186) and C573T (rs5182)), ACE (I/D (rs1799752) and G2350A (rs4343)), and CYP11B2 C-344T (rs1799998) were genotyped and compared between cases and controls to identify SNPs associated with ESRD susceptibility. Multifactor dimensionality reduction (MDR) was used to identify gene-gene interactions. Several RAAS genes were associated with ESRD: AGT M235T, ACE I/D, ACE G2350A, and CYP11B2 C-344T. By MDR analysis, a three-locus model (ACE ID/ACE G2350A/CYP11B2 C-344T) of gene-gene interaction was the best for predicting ESRD risk, and its maximum testing accuracy was 56.08% and maximum cross-validation consistency was 9/10. ESRD risk was higher with the simultaneous occurrence of ACE I/D DD-ACE G2350A AA. AGT, ACE, and CYP11B2 gene polymorphisms are associated with ESRD. CONCLUSIONS: The gene-gene interaction effects of ACE I/D, ACE G2350A, and CYP11B2 C-344T polymorphisms are more important than individual factors for ESRD development among Han Chinese.
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Su et al. (2014) conducted a case-control in End-stage renal disease (ESRD) (n=1,291). RAAS gene polymorphisms (ACE I/D, ACE G2350A, CYP11B2 C-344T) vs. Controls without ESRD was evaluated on ESRD susceptibility. A three-locus gene-gene interaction model involving ACE I/D, ACE G2350A, and CYP11B2 C-344T polymorphisms predicted end-stage renal disease risk with a maximum testing accuracy of 56.08%.
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