Genetics of calcium homeostasis in humans: continuum between monogenic diseases and continuous phenotypes

Détails

Ressource 1Télécharger: BIB_50A29581C88D.P001.pdf (373.03 [Ko])
Etat: Serval
Version: Final published version
ID Serval
serval:BIB_50A29581C88D
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Genetics of calcium homeostasis in humans: continuum between monogenic diseases and continuous phenotypes
Périodique
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
Auteur(s)
Bonny O., Bochud M.
ISSN
1460-2385 (Electronic)
ISSN-L
0931-0509
Statut éditorial
Publié
Date de publication
2014
Peer-reviewed
Oui
Volume
29
Numéro
suppl 4
Pages
iv55-iv62
Langue
anglais
Notes
IUMSP2014/09
Résumé
Extracellular calcium participates in several key physiological functions, such as control of blood coagulation, bone calcification or muscle contraction. Calcium homeostasis in humans is regulated in part by genetic factors, as illustrated by rare monogenic diseases characterized by hypo or hypercalcaemia. Both serum calcium and urinary calcium excretion are heritable continuous traits in humans. Serum calcium levels are tightly regulated by two main hormonal systems, i.e. parathyroid hormone and vitamin D, which are themselves also influenced by genetic factors. Recent technological advances in molecular biology allow for the screening of the human genome at an unprecedented level of detail and using hypothesis-free approaches, such as genome-wide association studies (GWAS). GWAS identified novel loci for calcium-related phenotypes (i.e. serum calcium and 25-OH vitamin D) that shed new light on the biology of calcium in humans. The substantial overlap (i.e. CYP24A1, CASR, GATA3; CYP2R1) between genes involved in rare monogenic diseases and genes located within loci identified in GWAS suggests a genetic and phenotypic continuum between monogenic diseases of calcium homeostasis and slight disturbances of calcium homeostasis in the general population. Future studies using whole-exome and whole-genome sequencing will further advance our understanding of the genetic architecture of calcium homeostasis in humans. These findings will likely provide new insight into the complex mechanisms involved in calcium homeostasis and hopefully lead to novel preventive and therapeutic approaches. Keyword: calcium, monogenic, genome-wide association studies, genetics.
Mots-clé
calcium, monogenic, genome-wide association studies, genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
24/09/2014 9:21
Dernière modification de la notice
08/05/2019 18:31
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