NDT Advance Access originally published online on January 5, 2007
Nephrology Dialysis Transplantation 2007 22(5):1483; doi:10.1093/ndt/gfl738
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ACE gene I/D polymorphism and the presence of renal failure or hypertension in autosomal dominant polycystic kidney disease (ADPKD)
Email: jgumprecht{at}slam.katowice.plSir,
Epidemiological data have suggested that interactions between multiple genetic and environmental factors are involved in the process of progressive renal damage in the course of various kidney diseases, including autosomal polycystic kidney disease [1–4].
Recently, we read with interest the results of a meta-analysis of studies examining the association between angiotensin I-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and the presence of end-stage renal disease (ESRD) in patients with ADPKD [5]. Based on the analysis of combined data from 13 reports, Pereira et al. [5] found no proof for the involvement of ACE gene I/D marker in the development of ESRD or hypertension in ADPKD patients.
Inspired by this report, we looked into ACE I/D genotypes obtained in a small sample of 105 Caucasian ADPKD patients [58 women and 47 men, median age 43 years (25–75%: 35–54 years)], of whom 42 presented renal failure (S-creatinine 
130 µmol/l), with median serum creatinine of 432 µmol/l (25–75%: 192–780 µmol/l). Seventy patients were hypertensive (systolic blood pressure 140 mmHg and/or diastolic blood pressure 90 mmHg, or antihypertensive treatment). There were no significant differences in I/D genotype distributions between ADPKD patients, with and without renal failure. Frequencies of D/D, I/D and I/I genotypes among patients with renal failure were 33, 57, 10%, respectively, and 33, 49 and 18% in those with normal S-creatinine levels. In hypertensive patients, D/D, I/D and I/I genotype frequencies were 34, 57 and 9%, while in normotensives, they were 34, 43 and 23%, respectively. Genotype distribution obtained in 130 healthy controls was 37, 37 and 16% (D/D, I/D and I/I, respectively). We found no differences in serum ACE levels between ADPKD patients with and without renal failure, or in patients with hypertension vs normotensives. However, ACE levels were highest among carriers of the DD genotype, and lowest in the I/I group, with heterozygotes presenting intermediate levels.
In summary, our data obtained in a small sample of ADPKD patients failed to show an association between the ACE gene polymorphism and the presence of renal failure or hypertension, and can be added to further meta-analyses of ADPKD patients.
Conflict of interest statement. None declared.
Department and Clinic of
Internal Medicine Diabetology and
Nephrology Silesian
School of Medicine
Zabrze
Poland
References
- Freedman BI and Bowden DW. (1995) The role of genetic factors in the development of end-stage renal disease. Curr Opin Nephrol Hypertens 4:230–234.[CrossRef][Medline]
- Freedman BI, Soucie JM, McClellan W. (1997) Family history of end-stage renal disease among incident dialysis patients. J Am Soc Nephrol 8:1942–1945.[Abstract]
- Spray BJ, Atassi NG, Tuttle AG, Freedman BI. (1995) Familial risk, age at onset, and cause of end-stage renal disease in white Americans. J Am Soc Nephrol 5:1806–1810.[Abstract]
- Fain PR, McFann KK, Taylor MR, et al. (2005) Modifier genes play a significant role in the phenotypic expression of PKD1. Kidney Int 67:1256–1267.[CrossRef][Web of Science][Medline]
- Pereira TV, Nunes ACF, Rudnicki M, et al. (2006) Influence of ACE I/D gene polymorphism in the progression of renal failure in autosomal dominant polycystic kidney disease: a meta-analysis. Nephrol Dial Transplant 21:3155–3163.
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