English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/74923
Share/Impact:
Statistics
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:
Title

Identification of a novel quantitative trait nucleotype related to iron status in a calcium channel gene

AuthorsBaeza-Richer, Carlos; Blanco Rojo, R. ; López Parra, Ana M.; Brichs, Anna; Bertoncini, S.; Pérez Granados, Ana M. ; Buil, Alfonso; Soria, José M.; Arroyo Pardo, E.; Vaquero, M. Pilar
Issue Date2013
PublisherIOS Press
CitationDisease Markers 34: 121- 129 (2013)
AbstractSeveral iron-related parameters have been reported to show significant heritability, and thus, seemed to be genetically regulated. A genome wide family-based study revealed two regions that showed a linkage signal with transferrin receptor levels. The aim of the study was to identify genetic markers associated with iron status biomarkers. Ten SNPs selected from the literature were tested, and parameters related to iron metabolism were analysed, in a group (n=284) of Spanish women. Data were analyzed using Bayesian Model Averaging (BMA) test and decision trees. The rs1375515, located in an intronic region of the calcium channel gene CACNA2D3, showed strong associations with levels of mean corpuscular volume according to BMA test, and with levels of haemoglobin and ferritin according to decision trees. The allele G was associated to low levels of these parameters which suggests higher iron deficiency anaemia risk. This SNP along with the C282Y mutation explained significant differences in the distribution of individuals in three iron-related clinical phenotypes (normal, iron deficient and iron deficiency anaemic). In conclusion, the rs1375515, or other genetic polymorphisms in linkage, may play important roles in iron status, probably by affecting the function of a calcium channel. These findings may be useful for further investigation in the etiology of iron diseases. © 2013 - IOS Press and the authors. All rights reserved.
URIhttp://hdl.handle.net/10261/74923
DOI10.3233/DMA-120951
Identifiersdoi: 10.3233/DMA-120951
issn: 0278-0240
Appears in Collections:(ICTAN) Artículos
Files in This Item:
File Description SizeFormat 
accesoRestringido.pdf15,38 kBAdobe PDFThumbnail
View/Open
Show full item record
Review this work
 

Related articles:


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.