Vitamin D status in primary hyperparathyroidism: effect of genetic background

Claudia Battista, Vito Guarnieri, Vincenzo Carnevale, Filomena Baorda, Mauro Pileri, Maria Garrubba, Antonio S. Salcuni, Iacopo Chiodini, Salvatore Minisola, Elisabetta Romagnoli, Cristina Eller-Vainicher, Stefano Angelo Santini, Salvatore Parisi, Vincenzo Frusciante, Andrea Fontana, Massimiliano Copetti, Geoffrey N. Hendy, Alfredo Scillitani, David E. C. Cole

Risultato della ricerca: Contributo in rivistaArticolo in rivista

13 Citazioni (Scopus)


Primary hyperparathyroidism (PHPT) is associated with hypovitaminosis D as assessed by serum total 25-hydroxyvitamin D (TotalD) levels. The aim of this study is to evaluate whether this is also the case for the calculated bioavailable 25-hydroxyvitamin D (BioD) or free 25-hydroxyvitamin D (FreeD), and whether the vitamin D status is influenced by genetic background. We compared vitamin D status of 88 PHPT patients each with a matched healthy family member sharing genetic background, i.e., first-degree relative (FDR), or not, namely an in-law relative (ILR). We compared TotalD and vitamin D-binding protein (DBP), using the latter to calculate BioD and FreeD. We also genotyped two common DBP polymorphisms (rs7041 and rs4588) likely to affect the affinity for and levels of vitamin D metabolites. TotalD was lower (p < 0.001) in PHPT (12.3 ± 6.6 ng/mL) than either family member group (FDR: 19.4 ± 12.1 and ILR: 23.2 ± 14.1), whether adjusted for DBP or not. DBP levels were also significantly lower (p < 0.001) in PHPT (323 ± 73 mg/L) versus FDR (377 ± 98) or ILR (382 ± 101). The differences between PHPT and control groups for TotalD, BioD, and FreeD were maintained after adjustment for season, gender, and serum creatinine. 25-hydroxyvitamin D, evaluated as total, free, or bioavailable fractions, is decreased in PHPT. No difference was seen between first-degree relative and in-law controls, suggesting that neither genetic nor non-genetic background greatly influences the genesis of the hypovitaminosis D seen in PHPT.
Lingua originaleEnglish
pagine (da-a)266-272
Numero di pagine7
Stato di pubblicazionePubblicato - 2017


  • Adult
  • Aged
  • Bioavailable 25-hydroxyvitamin D
  • Family
  • Female
  • Free 25-hydroxyvitamin D
  • Humans
  • Hyperparathyroidism, Primary
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Primary hyperparathyroidism
  • Seasons
  • Sex Factors
  • Vitamin D
  • Vitamin D Deficiency
  • Vitamin D-Binding Protein
  • Vitamin D-binding protein


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