Genetic contribution to renal function and electrolyte balance: a twin study.
Hunter DJ., Lange MD., Snieder H., MacGregor AJ., Swaminathan R., Thakker RV., Spector TD.
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%); 24 h urinary potassium, 40% (27-51%); 24 h urinary calcium, 52% (41-61%); 24 h 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.