A classical twin study was performed to assess the relative contributions of genetic and environmental factors to serum levels of calcium, phosphate and magnesium, urinary levels of calcium, sodium and potassium, and creatinine clearance. The subjects were 1747 adult female twin pairs: 539 monozygotic and 1208 dizygotic. The intraclass correlations were calculated, and maximum-likelihood model fitting was used to estimate genetic and environmental variance components. The intraclass correlations for all of the variables assessed were higher in monozygotic twin pairs. The heritabilities (with 95% confidence intervals) obtained from model fitting were: serum calcium, 33% (21–45%); serum phosphate, 58% (53–62%), serum magnesium, 27% (15–39%); 24h urinary potassium, 40% (27–51%); 24h urinary calcium, 52% (41–61%); 24h urinary sodium, 43% (30–54%); fractional excretion of sodium, 52% (44–59%); serum creatinine, 37% (25–49); calculated creatinine clearance, 63% (54–72%). This study provides evidence for the importance of genetic factors in determining urinary and blood levels of the major electrolytes involved in blood pressure regulation. Identifying heritability is the first step on the way to finding specific genes, which may improve our insight into the pathophysiology of the metabolism of these electrolytes, and thereby improve our understanding of the aetiology of complex diseases such as renal failure and hypertension.
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Research Article|
August 13 2002
Genetic contribution to renal function and electrolyte balance: a twin study
David J. HUNTER;
David J. HUNTER
*Twin Research and Genetic Epidemiology Unit, St Thomas' Hospital, Lambeth Palace Road, London SE1 7EH, U.K.
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Marlies DE LANGE;
Marlies DE LANGE
*Twin Research and Genetic Epidemiology Unit, St Thomas' Hospital, Lambeth Palace Road, London SE1 7EH, U.K.
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Harold SNIEDER;
Harold SNIEDER
*Twin Research and Genetic Epidemiology Unit, St Thomas' Hospital, Lambeth Palace Road, London SE1 7EH, U.K.
†Georgia Prevention Institute, Medical College of Georgia, Augusta, GA 30912, U.S.A.
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Alex J. MAC GREGOR;
Alex J. MAC GREGOR
*Twin Research and Genetic Epidemiology Unit, St Thomas' Hospital, Lambeth Palace Road, London SE1 7EH, U.K.
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R. SWAMINATHAN;
R. SWAMINATHAN
‡Department of Chemical Pathology, St Thomas' Hospital, Lambeth Palace Road, London SE1 7EH, U.K.
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Rajesh V. THAKKER;
Rajesh V. THAKKER
§Molecular Endocrinology Group, Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, U.K.
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Tim D. SPECTOR
*Twin Research and Genetic Epidemiology Unit, St Thomas' Hospital, Lambeth Palace Road, London SE1 7EH, U.K.
Correspondence: Dr T.D. Spector (e-mail [email protected]).
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Publisher: Portland Press Ltd
Received:
January 18 2002
Revision Received:
March 27 2002
Accepted:
May 27 2002
Online ISSN: 1470-8736
Print ISSN: 0143-5221
The Biochemical Society and the Medical Research Society © 2002
2002
Clin Sci (Lond) (2002) 103 (3): 259–265.
Article history
Received:
January 18 2002
Revision Received:
March 27 2002
Accepted:
May 27 2002
Citation
David J. HUNTER, Marlies DE LANGE, Harold SNIEDER, Alex J. MAC GREGOR, R. SWAMINATHAN, Rajesh V. THAKKER, Tim D. SPECTOR; Genetic contribution to renal function and electrolyte balance: a twin study. Clin Sci (Lond) 1 September 2002; 103 (3): 259–265. doi: https://doi.org/10.1042/cs1030259
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