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Analysis of the influence of the T393C polymorphism of the GNAS gene on the clinical expression of primary hyperparathyroidism.
- Source :
-
Endocrinologia, diabetes y nutricion [Endocrinol Diabetes Nutr] 2017 Dec; Vol. 64 (10), pp. 524-530. Date of Electronic Publication: 2017 Oct 18. - Publication Year :
- 2017
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Abstract
- Background: The receptor of parathyroid hormone and parathyroid hormone-related-protein (PTH/PTHrp) is located in the cell membrane of target tissues - kidney and osteoblasts. It is a G protein-coupled-receptor whose G <subscript>s</subscript> α subunit is encoded by the GNAS gene. Our aim was to study whether the single nucleotide polymorphism (SNP) T393C of the GNAS gene is associated with renal stones, bone mineral density (BMD), or bone remodelling markers in primary hyperparathyroidism (PHPT).<br />Methods: An analysis was made of clinical and biochemical parameters and densitometric values in three areas and their relationship with the T393C SNP of the GNAS gene in 261 patients with primary hyperparathyroidism and in 328 healthy controls. Genotyping was performed using the Custom Taqman <superscript>®</superscript> SNP Genotyping assay.<br />Results: The genotype frequencies of GNAS T/C 393 were similar in the control and PHPT groups. No association was found between genotypes and clinical expression of PHPT (renal stones and bone fractures). A nonstatistically significant trend was seen to lower BMD in the lumbar spine, femoral neck, and total hip in both PHPT and control C homozygote subjects.<br />Conclusion: Genetic susceptibility to PHPT related to the GNAS T393C polymorphism or a major influence in its development and clinical expression were found. A C allele-related susceptibility to lower BMD in trabecular bone in both PHPT and control subjects is not sufficient to suggest a more severe clinical expression of PHPT. This trend may be considered as a basis for further studies with larger sample sizes and complementary functional evaluation.<br /> (Copyright © 2017 SEEN y SED. Publicado por Elsevier España, S.L.U. All rights reserved.)
- Subjects :
- Aged
Alkaline Phosphatase blood
Biomarkers
Bone Density genetics
Bone Remodeling genetics
Calcium blood
Female
Gene Frequency
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Humans
Hyperparathyroidism, Primary blood
Hyperparathyroidism, Primary complications
Kidney Calculi etiology
Male
Middle Aged
Spain
Vitamin D analogs & derivatives
Vitamin D blood
Chromogranins genetics
GTP-Binding Protein alpha Subunits, Gs genetics
Hyperparathyroidism, Primary genetics
Polymorphism, Single Nucleotide
Subjects
Details
- Language :
- English; Spanish; Castilian
- ISSN :
- 2530-0172
- Volume :
- 64
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Endocrinologia, diabetes y nutricion
- Publication Type :
- Academic Journal
- Accession number :
- 29179855
- Full Text :
- https://doi.org/10.1016/j.endinu.2017.08.006