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Polymorphisms in the gene encoding angiotensin I converting enzyme 2 and diabetic nephropathy
S Fröjdö1, L Sjölind, M Parkkonen
1Folkhälsan Institute of Genetics, Folkhälsan Research Centre, Biomedicum, University of Helsinki, Finland.
Diabetologia
|October 8, 2005
Summary
Genetic variations in Angiotensin I converting enzyme 2 (ACE2) are not linked to diabetic nephropathy in Finnish type 1 diabetic patients. Further research is needed to explore potential minor effects of ACE2.
Area of Science:
- Nephrology
- Genetics
- Endocrinology
Background:
- The renin-angiotensin system (RAS) plays a role in diabetic nephropathy.
- Angiotensin I converting enzyme 2 (ACE2) is a key component of the RAS, implicated in kidney disease and hypertension.
Purpose of the Study:
- To investigate the association between variations in the ACE2 gene and diabetic nephropathy in Finnish type 1 diabetic patients.
Main Methods:
- A cross-sectional, case-control study of 823 Finnish type 1 diabetic patients (365 with and 458 without nephropathy).
- Genotyping of five single-nucleotide polymorphisms (SNPs) in ACE2 using TaqMan technology.
- Haplotype analysis using PHASE software and chi(2)-test.
Main Results:
- No significant association was found between ACE2 polymorphisms and diabetic nephropathy.
- Haplotype analysis supported the lack of association.
- ACE2 polymorphisms were not associated with blood pressure, BMI, or HbA1c levels.
Conclusions:
- ACE2 gene variations are not associated with diabetic nephropathy or its risk factors in this Finnish cohort.
- Further studies are warranted to investigate potential minor roles of ACE2 in diabetic nephropathy.