title: Polymorphisms in the gene encoding angiotensin I converting enzyme 2 and diabetic nephropathy.
abstract: OBJECTIVE
  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.
  
  
  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 chi(2)-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 HbA(1)c.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Folkhälsan Institute of Genetics, Folkhälsan Research Centre, Biomedicum, University of Helsinki, Finland.
authors.forename: S
authors.initials: S
authors.lastname: Fröjdö
authors.forename: L
authors.initials: L
authors.lastname: Sjölind
authors.forename: M
authors.initials: M
authors.lastname: Parkkonen
authors.forename: V-P
authors.initials: VP
authors.lastname: Mäkinen
authors.forename: R
authors.initials: R
authors.lastname: Kilpikari
authors.forename: K
authors.initials: K
authors.lastname: Pettersson-Fernholm
authors.forename: C
authors.initials: C
authors.lastname: Forsblom
authors.forename: J
authors.initials: J
authors.lastname: Fagerudd
authors.forename: C
authors.initials: C
authors.lastname: Tikellis
authors.forename: M E
authors.initials: ME
authors.lastname: Cooper
authors.forename: M
authors.initials: M
authors.lastname: Wessman
authors.forename: P-H
authors.initials: PH
authors.lastname: Groop
mesh_terms: D000328:Adult; D000085962:Angiotensin-Converting Enzyme 2; D002268:Carboxypeptidases / Q000235:genetics*; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D003928:Diabetic Nephropathies / Q000235:genetics*; D005260:Female; D005387:Finland; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D007703:Peptidyl-Dipeptidase A; D020641:Polymorphism, Single Nucleotide
chemical_list: D002268:Carboxypeptidases; D007703:Peptidyl-Dipeptidase A; C000705307:ACE2 protein, human; D000085962:Angiotensin-Converting Enzyme 2