Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts.

doi:10.1210/jc.2014-2857

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Article

Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts.

The Journal of clinical endocrinology and metabolism - 1 Dec 2014

D'Agruma Leonardo, Coco Michela, Guarnieri Vito, Battista Claudia, Canaff Lucie, Salcuni Antonio S, Corbetta Sabrina, Cetani Filomena, Minisola Salvatore, Chiodini Iacopo, Eller-Vainicher Cristina, Spada Anna, Marcocci Claudio, Guglielmi Giuseppe, Zini Michele, Clemente Rosanna, Wong Betty Y L, de Martino Danilo, Scillitani Alfredo, Hendy Geoffrey N, Cole David E C

Abstract excerpt

CONTEXT: Glial cells missing-2 (GCM2) is key for parathyroid gland organogenesis. Its persistent expression in the adult parathyroid raises the possibility that overactive forms play a role in the evolution of parathyroid hyperactivity or tumorigenesis. A GCM2 c.844T → G; p.Y282D missense variant has been described within a transactivation inhibitory domain (amino acids 263-352). OBJECTIVE: The aims of the study...

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Identifiers

PMID: 25279501
DOI: 10.1210/jc.2014-2857

Genes

GCM2
PTH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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