title: R990G polymorphism of calcium sensing receptor gene is associated with high parathyroid hormone levels in subjects with vitamin D deficiency: a cross-sectional study.
abstract: 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.
authors.affiliation: Section of Chemical Pathology, Department of Pathology & Microbiology, Aga Khan University, Stadium Road, Karachi 74800, Pakistan.
authors.forename: Hafsa
authors.initials: H
authors.lastname: Majid
authors.affiliation: Section of Chemical Pathology, Department of Pathology & Microbiology, Aga Khan University, Stadium Road, Karachi 74800, Pakistan.
authors.forename: Aysha Habib
authors.initials: AH
authors.lastname: Khan
authors.affiliation: Section of Molecular Pathology, Department of Pathology & Microbiology, Aga Khan University, Stadium Road, P.O. Box 3500, Karachi 74800, Pakistan.
authors.forename: Tariq
authors.identifier: 0000-0001-7596-8698
authors.initials: T
authors.lastname: Moatter
mesh_terms: D000328:Adult; D000483:Alleles; D002118:Calcium / Q000378:metabolism; D003430:Cross-Sectional Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D010281:Parathyroid Hormone / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044169:Receptors, Calcium-Sensing / Q000235:genetics*; D014807:Vitamin D / Q000235:genetics / Q000378:metabolism; D014808:Vitamin D Deficiency / Q000235:genetics* / Q000378:metabolism*
chemical_list: D010281:Parathyroid Hormone; D044169:Receptors, Calcium-Sensing; D014807:Vitamin D; D002118:Calcium