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Title: Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density
Author: Martínez-Gil, Núria
Roca Ayats, Neus
Monistrol-Mula, A.
Garcia Giralt, Natàlia
Díez Pérez, Adolfo
Nogués Solán, Xavier
Mellibovsky, Leonardo
Grinberg Vaisman, Daniel Raúl
Balcells Comas, Susana
Keywords: Proteïnes
Càncer d'ossos
Bones cancer
Issue Date: 19-Jul-2018
Publisher: Nature Publishing Group
Abstract: Numerous GWAS and candidate gene studies have highlighted the role of the Wnt pathway in bone biology. Our objective has been to study in detail the allelic architecture of three Wnt pathway genes: WNT16, DKK1 and SOST, in the context of osteoporosis. We have resequenced the coding and some regulatory regions of these three genes in two groups with extreme bone mineral density (BMD) (n=∼50, each) from the BARCOS cohort. No interesting novel variants were identifed. Thirteen predicted functional variants have been genotyped in the full cohort (n=1490), and for ten of them (with MAF>0.01), the association with BMD has been studied. We have found six variants nominally associated with BMD, of which 2 WNT16 variants predicted to be eQTLs for FAM3C (rs55710688, in the Kozak sequence and rs142005327, within a putative enhancer) withstood multiple-testing correction. In addition, two rare variants in functional regions (rs190011371 in WNT16b 3′UTR and rs570754792 in the SOST TATA box) were found only present in three women each, all with BMD below the mean of the cohort. Our results reinforce the higher importance of regulatory versus coding variants in these Wnt pathway genes and open new ways for functional studies of the relevant variants.
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It is part of: Scientific Reports, 2018, vol. 8, num. 10951
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ISSN: 2045-2322
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)

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