R990G Polymorphism of Calcium Sensing Receptor Gene Is Associated with High Parathyroid Hormone Levels in Subjects with Vitamin D Deficiency: A Cross-Sectional Study.

Single nucleotide polymorphisms (SNPs), R990G and A986S of the calcium sensing receptor (CaSR) gene, are shown to influence response of parathyroid hormone (PTH) in subjects with optimal vitamin D levels. This cross-sectional study was conducted in subjects with vitamin D deficiency (VDD) to observe...

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Publicado en:BioMed Research International Vol. 2015; pp. 1 - 7
Autores principales: Majid, Hafsa, Khan, Aysha Habib, Moatter, Tariq
Formato: research tables/charts Journal Article
Publicado: Wiley-Blackwell 1/28/2015
Acceso en línea:Ver este registro en EBSCOhost
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      dt: 1/28/2015
      vid: 2015
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      pub: Wiley-Blackwell
      place: Malden, Massachusetts
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        109273250
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        10.1155/2015/407159
        109273250
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        atl: R990G Polymorphism of Calcium Sensing Receptor Gene Is Associated with High Parathyroid Hormone Levels in Subjects with Vitamin D Deficiency: A Cross-Sectional Study.
      aug:
        au:
          Majid, Hafsa
          Khan, Aysha Habib
          Moatter, Tariq
        affil: Section of Chemical Pathology, Department of Pathology & Microbiology, Aga Khan University, Stadium Road, Karachi 74800, Pakistan
      sug:
        subj:
          Polymorphism, Genetic
          Calcium
          Parathyroid Hormones Blood
          Vitamin D Deficiency
          Human
          Cross Sectional Studies
          Female
          Time Factors
          Adolescence
          Adult
          Middle Age
          Data Analysis Software
          Fisher's Exact Test
          Funding Source
          Adolescent: 13-18 years
          Adult: 19-44 years
          Middle Aged: 45-64 years
          Female
      ab: Single nucleotide polymorphisms (SNPs), R990G and A986S of the calcium sensing receptor (CaSR) gene, are shown to influence response of parathyroid hormone (PTH) in subjects with optimal vitamin D levels. This cross-sectional study was conducted in subjects with vitamin D deficiency (VDD) to observe associations between CaSR polymorphisms, plasma iPTH, and serum calcium levels. Adult females (n=140) with known VDD, intact parathyroid hormone (iPTH), and calcium levels were recruited for genotype analysis. The frequencies of the 986 alleles GG, GT, and TT were 68%, 25%, and 7%, respectively, whereas the frequencies of the 990 alleles AA, AG, and GG were 80%, 8.9%, and 11.1%, respectively. The subjects with GG genotype of R990G polymorphism had higher iPTH levels (148.65 versus 91.47 and 86.1 pg/mL for GG versus AA, AG, resp., P= 0.008 ) and lower calcium levels (8.4 versus 9.04 and 9.07 mg/dL for GG versus AA, AG, resp., P= 0.002). No such association of A986S polymorphism with plasma iPTH or serum calcium levels was observed in the present study. Patients with VDD bearing the GG genotype of R990G SNPs are prone to have higher iPTH levels and lower calcium.
      pubtype: Academic Journal
      doctype:
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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