Genetic aspects underlying the normocalcemic and hypercalcemic phenotypes of primary hyperparathyroidism

J.P. Bilezikian, A.A. Khan, S.J. Silverberg, G.E. Fuleihan, C. Marcocci, S. Minisola, N. Perrier, A. Sitges-Serra, R.V. Thakker, G. Guyatt, M. Mannstadt, J.T. Potts, B.L. Clarke, M.L. Brandi, Evaluation and management of primary hyperparathyroidism: summary statement and guidelines from the fifth international workshop. J. Bone Miner. Res. 37, 2293–2314 (2022). https://doi.org/10.1002/jbmr.4677

Article  PubMed  Google Scholar 

S. Minisola, A. Arnold, Z. Belaya, M.L. Brandi, B.L. Clarke, F.M. Hannan, L.C. Hofbauer, K.L. Insogna, A. Lacroix, U. Liberman, Epidemiology, pathophysiology, and genetics of primary hyperparathyroidism. J. Bone Min. Res. 37, 2315–2329 (2022). https://doi.org/10.1002/jbmr.4665

Article  Google Scholar 

G. El-Hajj Fuleihan, M. Chakhtoura, C. Cipriani, R. Eastell, T. Karonova, J.-M. Liu, S. Minisola, A. Mithal, C.A. Moreira, M. Peacock, M. Schini, B. Silva, M. Walker, O. El Zein, C. Marcocci, Classical and nonclassical manifestations of primary hyperparathyroidism. J. Bone Min. Res. 37, 2330–2350 (2022). https://doi.org/10.1002/jbmr.4679

Article  Google Scholar 

N.E. Cusano, N.M. Maalouf, P.Y. Wang, C. Zhang, S.C. Cremers, E.M. Haney, D.C. Bauer, E.S. Orwoll, J.P. Bilezikian, Normocalcemic hyperparathyroidism and hypoparathyroidism in two community-based nonreferral populations. J. Clin. Endocrinol. Metab. 98, 2734–2741 (2013). https://doi.org/10.1210/jc.2013-1300

Article  CAS  PubMed  PubMed Central  Google Scholar 

Palermo A., Naciu A.M., Tabacco G., Falcone S., Santonati A., Maggi D., D'Onofrio L., Briganti S.I., Castellitto D., Casini A., Pedone C., Lelli D., Fabbri A., Bilezikian J.P., Napoli N., Pozzilli P., Manfrini S., Cesareo R. Clinical, biochemical, and radiological profile of normocalcemic primary hyperparathyroidism. J. Clin. Endocrinol. Metab. 105 (2020). https://doi.org/10.1210/clinem/dgaa174

J. Pepe, L. Colangelo, C. Sonato, M. Occhiuto, C. Ferrara, A. Del Fattore, R. Santori, M. Mastrantonio, A. Sgreccia, S. Minisola, C. Cipriani, Echocardiographic findings in patients with normocalcemic primary hyperparathyroidism compared with findings in hypercalcemic primary hyperparathyroid patients and control subjects. Endocr. Pract. 27, 21–26 (2021). https://doi.org/10.4158/EP-2020-0405

Article  PubMed  Google Scholar 

K.C.J. Wu, M. Anpalahan, Normocalcaemic primary hyperparathyroidism: is nephrolithiasis more common than osteoporosis. Intern. Med. J. 53, 112–118 (2023). https://doi.org/10.1111/imj.15502

Article  CAS  PubMed  Google Scholar 

F. Ferrone, J. Pepe, V.C. Danese, V. Fassino, V. Cecchetti, F. De Lucia, F. Biamonte, L. Colangelo, G. Ferrazza, E. Panzini, A. Scillitani, L. Nieddu, F. Blocki, S.D. Rao, S. Minisola, C. Cipriani, The relative influence of serum ionized calcium and 25-hydroxyvitamin D in regulating PTH secretion in healthy subjects. Bone 125, 200–206 (2019). https://doi.org/10.1016/j.bone.2019.05.029

Article  CAS  PubMed  Google Scholar 

P. Blasi, F. Palmerio, A. Aiello, M. Rocchi, P. Malaspina, A. Novelletto, SSADH variation in primates: intra- and interspecific data on a gene with a potential role in human cognitive functions. J. Mol. Evol. 63, 54–68 (2006). https://doi.org/10.1007/s00239-005-0154-8

Article  CAS  PubMed  Google Scholar 

The 1000 Genomes Project Consortium, A global reference for human genetic variation. Nature 526, 68–74 (2015). https://doi.org/10.1038/nature15393

Article  CAS  Google Scholar 

E. Alladio, C. Della Rocca, F. Barni, J.-M. Dugoujon, P. Garofano, O. Semino, A. Berti, A. Novelletto, M. Vincenti, F. Cruciani, A multivariate statistical approach for the estimation of the ethnic origin of unknown genetic profiles in forensic genetics. Forensic Sci. Int. Genet. 45, 102209 (2020). https://doi.org/10.1016/j.fsigen.2019.102209

Article  CAS  PubMed  Google Scholar 

M. Stephens, N.J. Smith, P. Donnelly, A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet 68, 978–989 (2001). https://doi.org/10.1086/319501

Article  CAS  PubMed  PubMed Central  Google Scholar 

L. Excoffier, H.E. Lischer, Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows. Mol. Ecol. Resour. 10, 564–567 (2010). https://doi.org/10.1111/j.1755-0998.2010.02847.x

Article  PubMed  Google Scholar 

N.B. Erichson, P. Zheng, K. Manohar, S.L. Brunton, J.N. Kutz, A.Y. Aravkin, Sparse Principal Component analysis via variable projection. arXiv 1804, 00341 (2018).

M.D. Walker, S.J. Silverberg, Primary hyperparathyroidism. Nat. Rev. Endocrinol. 14, 115–125 (2018). https://doi.org/10.1038/nrendo.2017.104

Article  CAS  PubMed  Google Scholar 

R. Eastell, D.M. Black, L.Y. Lui, A. Chines, F. Marin, S. Khosla, A.E. de Papp, J.A. Cauley, B. Mitlak, C.E. McCulloch, E. Vittinghoff, D.C. Bauer, Treatment-related changes in bone turnover and fracture risk reduction in clinical trials of antiresorptive drugs: proportion of treatment effect explained. J. Bone Miner. Res. 36, 236–243 (2021). https://doi.org/10.1002/jbmr.4178

Article  CAS  PubMed  Google Scholar 

S.K. Lim, T.J. Gardella, H. Baba, S.R. Nussbaum, H.M. Kronenberg, The carboxy-terminus of parathyroid hormone is essential for hormone processing and secretion. Endocrinology 131, 2325–2330 (1992). https://doi.org/10.1210/endo.131.5.1425431

Article  CAS  PubMed  Google Scholar 

A.Y.M. Au, K. McDonald, A. Gill, M. Sywak, T. Diamond, A.D. Conigrave, R.J. Clifton-Bligh, PTH mutation with primary hyperparathyroidism and undetectable intact PTH. N. Engl. J. Med. 359, 1184–1186 (2008). https://doi.org/10.1056/NEJMc0802570

Article  CAS  PubMed  Google Scholar 

M. Kanzawa, T. Sugimoto, T. Kobayashi, A. Kobayashi, K. Chihara, Parathyroid hormone gene polymorphisms in primary hyperparathyroidism. Clin. Endocrinol. 50, 583–588 (1999). https://doi.org/10.1046/j.1365-2265.1999.00685.x

Article  CAS  Google Scholar 

S. Minisola, C. Cipriani, S. Piemonte, L. Colangelo, J. Pepe, E. Romagnoli, Osteoprotegerin serum levels in primary hyperparathyroidism and changes following surgery. Horm. Metab. Res. 46, 375 (2014). https://doi.org/10.1055/s-0033-1363278

Article  CAS  PubMed  Google Scholar 

J. Szymczak, A. Bohdanowicz-Pawlak, Osteoprotegerin, RANKL, and bone turnover in primary hyperparathyroidism: the effect of parathyroidectomy and treatment with alendronate. Horm. Metab. Res. 45, 759–764 (2013). https://doi.org/10.1055/s-0033-1349842

Article  CAS  PubMed  Google Scholar 

R. Goswami, T. Mohapatra, N. Gupta, R. Rani, N. Tomar, A. Dikshit, R.K. Sharma, Parathyroid hormone gene polymorphism and sporadic idiopathic hypoparathyroidism. J. Clin. Endocrinol. Metab. 89, 4840–4845 (2004). https://doi.org/10.1210/jc.2004-0273

Article  CAS  PubMed  Google Scholar 

F.M. Hannan, M.A. Nesbit, P.T. Christie, W. Lissens, B. Van der Schueren, M. Bex, R. Bouillon, R.V. Thakker, A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia. Clin. Endocrinol. 73, 715–722 (2010). https://doi.org/10.1111/j.1365-2265.2010.03870.x

Article  CAS  Google Scholar 

F.M. Hannan, E. Kallay, W. Chang, M.L. Brandi, R.V. Thakker, The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases. Nat. Rev. Endocrinol. 15, 33–51 (2019). https://doi.org/10.1038/s41574-018-0115-0

Article  CAS  Google Scholar 

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