The renal tubular Na–Cl co‐transporter (NCCT): a potential genetic link between blood pressure and bone density?

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Abstract
Hypertension and osteoporosis are both significant health problems. Hypertension affects 15–20% of the adult population in industrialized societies and is one of the principal independent risk factors for stroke, myocardial infarction, and end‐stage renal disease. Osteoporosis is the main cause of bone fractures in post‐menopausal women and the elderly, and causes pain, deformity, and loss of independence. Recognition that these diseases are in part genetically determined has motivated studies to identify mutations that confer either susceptibility or protection from these diseases. In the case of hypertension, all of the monogenic forms of high blood pressure described to date involve a defect in the kidney's ability to excrete salt. As such, these forms of hypertension are aggravated by a high sodium intake [1]. Similarly, there are reported associations between bone mineral density and vitamin D receptor polymorphisms in the setting of osteoporosis [2]. In complex diseases such as these, a polygenic model is more likely, in which multiple genes act in conjunction with environmental exposures to produce disease. Therefore, studying the effects of very rare genetic mutations can provide important insights into mechanism of disease. Furthermore, there may be a link between these two genetically determined diseases.