Background/aims: Angiotensin II has been shown to play an important role in various renal diseases. Genetic polymorphisms of the renin-angiotensin system have been reported to be related to the clinical outcomes in immunoglobulin A nephropathy (IgAN). We investigated the association of polymorphisms of the genes encoding major angiotensin II-forming enzymes with the development and progression of IgAN among Korean patients.
Methods: A total of 261 IgAN patients and 300 healthy controls were studied. The polymorphisms of angiotensin-converting enzyme gene (I/D, A2350G) and chymase (CMA) gene (rs1800875, rs1800876) were determined.
Results: No significant difference was observed in the genotype and allele frequencies of the polymorphisms between IgAN patients and controls. The frequency of AA/AG genotypes of CMA rs1800875 and CC/CT genotype of CMA rs1800876 were significantly higher in patients with progressive disease course than in those with stable course (53.2 vs. 38.6%, p = 0.029; 89.6 vs. 78.3%, p = 0.031, respectively). In the Cox regression model with adjustment for clinical risk factors, CMA rs1800875 AA/AG genotypes remained an independent risk factor (hazard ratio 2.351; p = 0.001).
Conclusion: Our results suggest that the CMA rs1800875 polymorphism is associated with the progression of IgAN in Korean patients.
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http://dx.doi.org/10.1159/000321140 | DOI Listing |
Eur J Hum Genet
October 2012
Heart Failure Research Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands.
The phenotypic variability of hypertrophic cardiomyopathy (HCM) in patients with identical pathogenic mutations suggests additional modifiers. In view of the regulatory role in cardiac function, blood pressure, and electrolyte homeostasis, polymorphisms in the renin-angiotensin-aldosterone system (RAAS) are candidates for modifying phenotypic expression. In order to investigate whether RAAS polymorphisms modulate HCM phenotype, we selected a large cohort of carriers of one of the three functionally equivalent truncating mutations in the MYBPC3 gene.
View Article and Find Full Text PDFNephron Clin Pract
May 2012
Department of Internal Medicine, Seoul National University College of Medicine, Seoul, South Korea.
Background/aims: Angiotensin II has been shown to play an important role in various renal diseases. Genetic polymorphisms of the renin-angiotensin system have been reported to be related to the clinical outcomes in immunoglobulin A nephropathy (IgAN). We investigated the association of polymorphisms of the genes encoding major angiotensin II-forming enzymes with the development and progression of IgAN among Korean patients.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!