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

机译:高血压女性钙敏感受体基因A986S多态性与骨量。

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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.
机译:背景:钙敏感受体(CaSR)的功能是将血清钙浓度维持在狭窄的生理范围内。已经描述了两种类型的突变:引起低钙血症的激活和导致高钙血症的失活。目的是评估CaSR基因A986S多态性对高血压女性腰椎骨量,钙代谢参数和骨重塑标志物的影响。方法:根据JNC VI的研究,该研究纳入了48例轻度至中度高血压患者(平均年龄59 +/- 10岁),且未出现任何相关疾病。我们在所有患者中确定了以下物质:Ca,P,Mg,PTHi,25维他命D,1,25维他命D,骨钙素,尿液中的脱氧吡啶啉,24小时尿钙。还进行了腰椎的骨密度测定。还通过PCR在所有患者中研究了CaSR基因A986S多态性。结果:AA的基因型频率为69%,AS的基因型频率为27%,SS的基因型频率为4%,等位基因A的患病率为82%,等位基因S的患病率为18%。缺乏等位基因S的患者的p水平较低(3.5 +/- 0.5与4 +/- 0.4,p = .034)。钙血浆水平,尿钙排泄量和骨量无差异。结论:我们发现在高血压女性CaSR基因A986S多态性参数研究中没有临床意义。

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