Calcium-sensing receptor gene A986S polymorphism and bone mass in hypertensive women. 2006

José Luis Pérez-Castrillón, and Alberto Sanz, and Jesús Silva, and Isabel Justo, and Eladio Velasco, and Antonio Dueñas
Departamento de Medicina Interna, Facultad de Medicina, Hospital Universitario Río Hortega, Valladolid, Spain. castrv@terra.es

BACKGROUND The function of the calcium-sensing receptor (CaSR) is to maintain serum calcium concentration within a narrow physiological range. Two types of mutations have been described: activating that causes hypocalcemia and inactivating, which leads to hypercalcemia. The objective was to assess the effect of CaSR gene A986S polymorphism on the lumbar spine bone mass, calcium metabolism parameters and markers of bone remodeling in hypertensive women. METHODS The study included 48 patients (mean age 59 +/- 10 years) with mild-to-moderate hypertension, according to JNC VI and who did not present any associated diseases. We determined the following in all patients: Ca, P, Mg, PTHi, 25-vitamin D, 1,25-vitamin D, osteocalcin, deoxypyridinoline in urine, 24-h urine calcium. A bone densitometry of the lumbar spine was also performed. CaSR gene A986S polymorphism was also studied in all patients by PCR. RESULTS Genotype frequency was 69% for AA, 27% for AS and 4% for SS, with a prevalence of 82% for allele A and 18% for allele S. Patients with a lack of allele S had lower levels of p (3.5 +/- 0.5 vs. 4 +/- 0.4, p = .034). No differences in calcium plasma levels, urinary calcium excretion and bone mass were observed. CONCLUSIONS We found no clinical significance in the parameters studied of the CaSR gene A986S polymorphism in hypertensive women.

UI MeSH Term Description Entries
D006973 Hypertension Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more. Blood Pressure, High,Blood Pressures, High,High Blood Pressure,High Blood Pressures
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006934 Hypercalcemia Abnormally high level of calcium in the blood. Milk-Alkali Syndrome,Hypercalcemias,Milk Alkali Syndrome,Syndrome, Milk-Alkali
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly
D015519 Bone Density The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS. Bone Mineral Content,Bone Mineral Density,Bone Densities,Bone Mineral Contents,Bone Mineral Densities,Density, Bone,Density, Bone Mineral
D016133 Polymerase Chain Reaction In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain
D016723 Bone Remodeling The continuous turnover of BONE MATRIX and mineral that involves first an increase in BONE RESORPTION (osteoclastic activity) and later, reactive BONE FORMATION (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium HOMEOSTASIS. An imbalance in the regulation of bone remodeling's two contrasting events, bone resorption and bone formation, results in many of the metabolic bone diseases, such as OSTEOPOROSIS. Bone Turnover,Bone Turnovers,Remodeling, Bone,Turnover, Bone,Turnovers, Bone

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