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- W3174057634 abstract "Primary hyperparathyroidism (PHPT) is the third most common endocrine disorder characterized by autonomous parathyroid hormone (PTH) secretion by one or more parathyroid glands and increased serum calcium concentration. A recent genome wide association study showed that the rs6127099 polymorphism, which is located upstream the CYP24A1 (Cytochrome P450, family 24, subfamily A, polypeptide 1) gene, is associated strongly with elevated serum PTH levels. CYP24A1 gene encodes an enzyme of cytochrome P450, which is responsible for inactivating vitamin D metabolites. As PTH hypersecretion is a common clinical sign of PHPT, the aim of the present study was to investigate the role of the polymorphism rs6127099 as a genetic predisposing factor for PHPT manifestation. Thirty-nine unrelated patients with sporadic PHPT and an equal number of healthy volunteers were enrolled in the study. Polymerase chain reaction and restriction fragment length polymorphism assays were used for rs6127099 genotyping in both groups. No statistically significant difference was observed comparing CYP24A1 rs6127099 A>T genotypes (p = 0.836) and A vs T allele (p = 0.383) distribution between PHPT patients and controls. In conclusion, rs6127099 polymorphism seems not to be associated with PHPT predisposition. Further independent studies, as the present one, are necessary to evaluate the strong association of rs6127099 polymorphism with PTH levels and its prognostic role in PHPT predisposition." @default.
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- W3174057634 date "2021-06-22" @default.
- W3174057634 modified "2023-09-23" @default.
- W3174057634 title "A pilot study of the association of rs6127099 polymorphism with primary hyperparathyroidism" @default.
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