Polymorphisms in the gene encoding angiotensin I converting enzyme 2 and diabetic nephropathy

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

doi:10.1007/s00125-005-1955-4

Polymorphisms in the gene encoding angiotensin I converting enzyme 2 and diabetic nephropathy

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

Research output: Contribution to journal › Article › peer-review

27 Citations (Scopus)

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 χ 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 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.

Original language	English
Pages (from-to)	2278-2281
Number of pages	4
Journal	Diabetologia
Volume	48
Issue number	11
DOIs	https://doi.org/10.1007/s00125-005-1955-4
Publication status	Published or Issued - Nov 2005
Externally published	Yes

Keywords

ACE2
Diabetic nephropathy
Haplotype
SNP
Type 1 diabetes

ASJC Scopus subject areas

Internal Medicine
Endocrinology, Diabetes and Metabolism

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10.1007/s00125-005-1955-4

Cite this

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title = "Polymorphisms in the gene encoding angiotensin I converting enzyme 2 and diabetic nephropathy",

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 χ 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 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.",

keywords = "ACE2, Diabetic nephropathy, Haplotype, SNP, Type 1 diabetes",

author = "S. Fr{\"o}jd{\"o} and L. Sj{\"o}lind and M. Parkkonen and M{\"a}kinen, {V. P.} and R. Kilpikari and K. Pettersson-Fernholm and C. Forsblom and J. Fagerudd and C. Tikellis and Cooper, {M. E.} and M. Wessman and Groop, {P. H.}",

note = "Funding Information: Acknowledgements This study was supported by grants from the Folkh{\"a}lsan Research Foundation, Samfundet Folkh{\"a}lsan, the Research Funds of the Helsinki University Central Hospital, the Wilhelm and Else Stockmann Foundation, the Sigrid Juselius Foundation, the Academy of Finland (00213 to M. Wessman), the European Commission (contract no. QLG2-CT-2001-01669), the Liv och H{\"a}lsa Foundation, and the Juvenile Diabetes Research Foundation. The skilled technical assistance of S. Lindh, A. Sandelin and T. Vesisenaho is gratefully acknowledged. Finally, we warmly thank all the patients who participated in the FinnDiane Study and gratefully acknowledge all the physicians and nurses at each participating centre who assisted in studying the patients (see Electronic supplementary material for a list of participating centres).",

year = "2005",

month = nov,

doi = "10.1007/s00125-005-1955-4",

language = "English",

volume = "48",

pages = "2278--2281",

journal = "Diabetologia",

issn = "0012-186X",

publisher = "Springer Verlag",

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TY - JOUR

T1 - Polymorphisms in the gene encoding angiotensin I converting enzyme 2 and diabetic nephropathy

AU - Fröjdö, S.

AU - Sjölind, L.

AU - Parkkonen, M.

AU - Mäkinen, V. P.

AU - Kilpikari, R.

AU - Pettersson-Fernholm, K.

AU - Forsblom, C.

AU - Fagerudd, J.

AU - Tikellis, C.

AU - Cooper, M. E.

AU - Wessman, M.

AU - Groop, P. H.

N1 - Funding Information: Acknowledgements This study was supported by grants from the Folkhälsan Research Foundation, Samfundet Folkhälsan, the Research Funds of the Helsinki University Central Hospital, the Wilhelm and Else Stockmann Foundation, the Sigrid Juselius Foundation, the Academy of Finland (00213 to M. Wessman), the European Commission (contract no. QLG2-CT-2001-01669), the Liv och Hälsa Foundation, and the Juvenile Diabetes Research Foundation. The skilled technical assistance of S. Lindh, A. Sandelin and T. Vesisenaho is gratefully acknowledged. Finally, we warmly thank all the patients who participated in the FinnDiane Study and gratefully acknowledge all the physicians and nurses at each participating centre who assisted in studying the patients (see Electronic supplementary material for a list of participating centres).

PY - 2005/11

Y1 - 2005/11

N2 - 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 χ 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 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.

AB - 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 χ 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 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.

KW - ACE2

KW - Diabetic nephropathy

KW - Haplotype

KW - SNP

KW - Type 1 diabetes

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DO - 10.1007/s00125-005-1955-4

M3 - Article

C2 - 16211375

AN - SCOPUS:27744514142

SN - 0012-186X

VL - 48

SP - 2278

EP - 2281

JO - Diabetologia

JF - Diabetologia

IS - 11

ER -

Polymorphisms in the gene encoding angiotensin I converting enzyme 2 and diabetic nephropathy

Abstract

Keywords

ASJC Scopus subject areas

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