A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations
A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations
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DOI：
10.1016/s0140-6736(98)06434-4
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发表时间：
1999-01-09
期刊：
影响因子：
168.9
通讯作者：
Hendy, GN
中科院分区：
文献类型：
--
作者：
Cole, DEC;Peltekova, VD;Hendy, GN
Background The regulation of extracellular calcium concentration by parathyroid hormone is mediated by a calcium-sensing, G-protein-coupled cell-surface receptor (CASR). Mutations of the CASR gene alter the set-point for extracellular ionised calcium [Ca2+](o) and cause familial hypercalcaemia or hypocalcaemia. The CASR missense polymorphism, A986S, is common in the general population and is, therefore, a prime candidate as a genetic determinant of extracellular calcium concentration.Methods We genotyped the CASR A986S variant (S allele frequency of 16.3%) in 163 healthy adult women and tested samples of their serum for total calcium, albumin, total protein, creatinine, phosphate, pH, and parathyroid hormone. A prospectively generated, random subset of 84 of these women provided a whole blood sample for assay of [Ca2+](o).Findings The A986S genotype showed no association with total serum concentration of calcium, until corrected for albumin. In a multivariate regression model, biochemical and genetic variables accounted for 74% of the total variation in calcium. The significant predictors of serum calcium were: albumin (p
