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Polymorphisms in the gene encoding angiotensin I converting enzyme 2 and diabetic nephropathy
Authors:S Fröjdö  L Sjölind  M Parkkonen  V-P Mäkinen  R Kilpikari  K Pettersson-Fernholm  C Forsblom  J Fagerudd  C Tikellis  M E Cooper  M Wessman  P-H Groop
Institution:(1) Folkhälsan Institute of Genetics, Folkhälsan Research Centre, Biomedicum, University of Helsinki, Helsinki, Finland;(2) Department of Medicine, Division of Nephrology, Helsinki University Central Hospital, Helsinki, Finland;(3) Baker Medical Research Institute, Melbourne, Victoria, Australia;(4) Department of Clinical Chemistry and the Finnish Genome Centre, University of Helsinki, Helsinki, Finland
Abstract:Aims/hypothesis Substantial evidence exists for the involvement of the renin–angiotensin system (RAS) in diabetic nephropathy. Angiotensin I converting enzyme 2 (ACE2), a new component of the RAS, has been implicated in kidney disease, hypertension and cardiac function. Based on this, the aim of the present study was to evaluate whether variations in ACE2 are associated with diabetic nephropathy.Materials and methods We used a cross-sectional, case–control study design to investigate 823 Finnish type 1 diabetic patients (365 with and 458 without nephropathy). Five single-nucleotide polymorphisms (SNPs) were genotyped using TaqMan technology. Haplotypes were estimated using PHASE software, and haplotype frequency differences were analysed using a chi2-test-based tool.Results None of the ACE2 polymorphisms was associated with diabetic nephropathy, and this finding was supported by the haplotype analysis. The ACE2 polymorphisms were not associated with blood pressure, BMI or HbA1c.Conclusions/interpretation In Finnish type 1 diabetic patients, ACE2 polymorphisms are not associated with diabetic nephropathy or any studied risk factor for this complication. Further studies are necessary to assess a minor effect of ACE2.Electronic Supplementary Material Supplementary material is available for this article at .
Keywords:ACE2  Diabetic nephropathy  Haplotype  SNP  Type 1 diabetes
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