Searchable abstracts of presentations at key conferences on calcified tissues
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European Calcified Tissue Society Congress 2013

Lisbon, Portugal
18 May 2013 - 22 May 2013

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European Calcified Tissue Society Congress 2013, 18 - 22 May 2013; Lisbon, Portugal

ba0001pp267 | Genetics | ECTS2013

A genetic determinant of vitamin D and its role in prostate cancer

Trummer Olivia , Thurner Eva , Langsenlehner Tanja , Langsenlehner Uwe , Krenn-Pilko Sabine , Marz Winfried , Pieber Thomas , Obermayer-Pietsch Barbara , Renner Wilfried

Preclinical and epidemiologic data suggest that vitamin D deficiency may play a role in the pathogenesis and progression of prostate cancer. Based on recently reported genetic determinants of vitamin D insufficiency we investigated a functional T>G single nucleotide polymorphism (SNP) in the group-specific component (GC) gene for its association with 25-hydroxy (25-OH) vitamin D and 1.25 dihydroxy (1.25-OH) vitamin D levels and further to test a possible association with m...

ba0001pp268 | Genetics | ECTS2013

No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders

Boudin Eveline , Jennes Karen , de Freitas Fenna , Tegay David , Mortier Geert , Van Hul Wim

Since the identification of LRP5 as the causative gene for the osteoporosis pseudoglioma syndrome (OPPG) as well as the high bone mass (HBM) phenotype, LRP5 and the Wnt/β-catenin signalling have been extensively studied for their role in the differentiation and proliferation of osteoblasts, in the apoptosis of osteoblasts and osteocytes and in the response of bone to mechanical loading. However, more recently the direct effect of LRP5 on osteoblasts and bone formation has...

ba0001pp269 | Genetics | ECTS2013

Expression analysis of mesenchymal KS483 cells during differentiation towards osteoblasts

Fijalkowski Igor , Boudin Eveline , Borra Vere , Van Hul Wim

The murine osteoprogenitor cell line, KS483 (Percuros, The Netherlands) is a well-established model for investigation of osteoblast differentiation and bone formation processes. The mesenchymal characteristics of this cell line allow it to differentiate into either adipocytes or mature, mineralizing osteoblasts. Various phases can be distinguished during osteoblast differentiation and maturation; namely proliferation, matrix formation, matrix maturation, and mineralization.</p...

ba0001pp270 | Genetics | ECTS2013

SQSTM1/P392L post-zygotic mutations in unrelated patients with Paget's disease of bone

Guay-Belanger Sabrina , Gagnon Edith , Morissette Jean , Brown Jacques P , Michou Laetitia

Introduction: Paget’s disease of bone (PDB) has an autosomal-dominant mode of inheritance in one-third of cases. The germinal SQSTM1/P392L mutation is the most frequent mutation, present in 40% of patients with a familial form of PDB, and 8% of unrelated patients. Fibrous dysplasia (FD) is a rare bone disorder, mono or polyostotic, caused by post-zygotic mutations in GNAS gene, for which a PCR-clamping method was developed to ease their detection and avo...

ba0001pp271 | Genetics | ECTS2013

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation.

Mihalich Alessandra , Ponti Emanuela , Broggi Francesca , Di Blasio Anna Maria , Bianchi Maria Luisa

Osteogenesis imperfecta is a clinically heterogeneous heritable connective tissue disorder. Most OI cases are due to mutations in type I collagen genes, COL1A1 and COL1A2 encoding the pro-alpha1(I) and pro-alpha2(I) chains respectively. However, genotype-phenotype correlation has not been completely elucidated yet. In this study we evaluated a familial case including a mother and a daughter, classified as OI type I. The daughter had more severe clinical featu...

ba0001pp272 | Genetics | ECTS2013

Comparison of gene expression in osteoblasts from patients of Polynesian and Caucasian ethnicities

Naot Dorit , Bava Usha , Choi Ally , Callon Karen , Pitto Rocco , Bentley Jarome , Gamble Greg , Cornish Jillian

Polynesians have higher bone mineral density and lower rate of hip fracture compared to age-matched Caucasian in New Zealand, and anecdotal evidence suggests that bones of Polynesian patients heal much faster than those of Caucasians. We compared gene expression in osteoblasts cultured form bone samples taken from patients of Polynesian and Caucasian origin, in order to identify genes and pathways that contribute to the greater density and accelerated healing of Polynesian bon...

ba0001pp273 | Genetics | ECTS2013

Functional analysis of the two Runx3 promoters in osseous and non-osseous cells: implications for tissue/differentiation specific transcription of distinct isoforms

Conceicao Natercia , Simoes Brigite , Cancela M Leonor

The Runt-domain transcription factors Runx2 and Runx3 are known to drive chondrocyte maturation from prehypertrophic to the terminal stage. The RUNX family proteins form dimers with CBFb, and bind to consensus sequences of 5′-PuACCPuCa-3′ upstream of target genes to activate or repress transcription.To address the role of Runx3 transcription factor in zebrafish, we have isolated the different splice variants encoding distinct runx3 p...

ba0001pp274 | Genetics | ECTS2013

Association between polymorphisms in leptin, its receptor and β adrenergic receptors genes and bone mineral density in postmenopausal Korean women

Kim Hoon , Ku Seung-Yup , Kim Seok Hyun , Choi Young Min , Kim Jong Hak , Kim Jung Gu

Objective: The purpose of this study was to investigate the association between single nucleotide polymorphisms (SNPs) in leptin (LEP), its receptor (LEPR) and β adrenergic receptor (ADRB) genes and bone mineral density (BMD) in postmenopausal Korean women.Methods: The LEP c.280G>A, LEPR c.326A>G, c.668A>G, c.1968G>C, c.2096C>T, ADRB2 c.46A>G, c.79C>G, c.718T>C, c....

ba0001pp275 | Genetics | ECTS2013

Genetic aspects of bone remodeling disturbance in patients with aggressive periodontitis

Zinovyeva Anastasia , Atrushkevich Victoria , Polyakov Alexander

Introduction: Aggressive periodontitis (AgP) is an inflammatory disease causing rapid loss of teeth in young patients.Aim: Determine degree of impact of COL1A1 gene on likelihood of AgP development.Materials and methods: Study included 47 patients with AgP, 40 patients with osteoporosis (OP), and 64 healthy patients (HP). Polymorphic variant c.104-441G>T (COL1A1) was studied. Statistics: Fisher’s...

ba0001pp276 | Genetics | ECTS2013

No association between the CYP1B1/Leu432Val polymorphism and osteoporosis-related traits in Slovak postmenopausal women

Omelka Radoslav , Krajcovicova Vladimira , Spankova Jana , Durisova Jana , Martiniakova Monika , Galbavy Drahomir , Bauerova Maria

It is well known that sex hormone deficiency leads to increased bone turnover and subsequent bone loss. The metabolism of estrogens involves, among others, oxidation (mainly hydroxylation) by CYPs. The aim of this study was to determine whether Leu432Val polymorphism in the CYP1B1 gene is present also in Slovak population and subsequently, if it is associated with femoral and spinal bone mineral density (FBMD and SBMD), bone remodeling markers and fracture incidence in this po...

ba0001pp277 | Genetics | ECTS2013

A genomic and transcriptomic approach to the high bone mass phenotype: evidences of heterogeneity and of additive effects of TWIST1, IL6R, DLX3, and PPARG

Sarrion Patricia , Mellibovsky Leonardo , Urreizti Roser , Civit Sergi , Cols Neus , Garcia-Giralt Natalia , Yoskovitz Guy , Aranguren Alvaro , Malouf Jorge , del Rio Luis , Guerri Roberto , Nogues Xavier , Diez-Perez Adolfo , Grinberg Daniel , Balcells Susana

The aims of this study were to establish the prevalence of the high bone mass (HBM) phenotype in a cohort of Spanish postmenapausal women (BARCOS); to determine whether any of the HBM cases carry LRP5 or DKK1 mutations; to test the hypothesis of an inverse correlation between the number of common variant risk alleles and HBM; and to characterize the expression of osteoblast-specific and Wnt pathway genes in primary osteoblast RNA samples from two HBM cases.</...

ba0001pp278 | Genetics | ECTS2013

Gene-wide association study of RANK and RANKL genes in the bone context: functional study of BMD-associated SNPs

Garcia-Giralt Natalia , Yoskovitz Guy , Rodriguez-Sanz Maria , Urreizti Roser , Guerri Roberto , Arino-Ballester Sergi , Prieto-Alhambra Daniel , Mellibovsky Leonardo , Grinberg Daniel , Nogues Xavier , Balcells Susana , Diez-Perez Adolfo

Over the past decade, many GWAs and meta-analyses were performed to identify genes and regions involved in bone metabolism and in the osteoporotic phenotypes. Nevertheless, the majority of these GWAS results were not tested at any functional level. This study aims to find and study functional regions in the RANK and RANKL genes that encode well-established proteins in the bone remodeling equilibrium. SNPs, chosen for their location in an evolutionary conserve...

ba0001pp279 | Genetics | ECTS2013

Genome-wide association study meta-analysis identifies the SOAT1/AXDND1 locus to be associated with hip and forearm fracture risk

Pettersson-Kymmer Ulrika , Lacroix Andrea , Eriksson Joel , Bergstrom Ulrica , Melin Beatrice , Wibom Carl , Vandenput Liesbeth , Rajaraman Preetha , Hartge Patricia , Chanock Stephen , Hallmans Goran , Duggan David , Kooperberg Charles , Handelman Samuel , Aragaki Aaron , Nethander Maria , Uitterlinden Andre , Rivadeneira Fernando , Jackson Rebecca , Ohlsson Claes

Hip and forearm fractures are the two clinically most important non-vertebral fractures. Twin studies have demonstrated a high heritability of these fractures and the heritable component of fracture risk is largely independent of BMD.To identify common genetic variants associated with hip and forearm fractures, we performed a genome-wide association study (GWAS ~ 2.5 million SNPs) meta-analysis of two large fracture data sets within the well-characterize...

ba0001pp280 | Genetics | ECTS2013

Association between dentinogenesis imperfecta and mutations in COLIA1 and COLIA2 genes

Andersson Kristofer , Dahllof Goran , Astrom Eva , Rubin C-J , Kindmark A , Lindahl Katarina , Ljunggren Osten , Malmgren Barbro

Introduction: Dentinogenesis imperfecta (DI) is a common dental aberration in patients with osteogenesis imperfecta (OI). Mutations that cause abnormal collagen chains will cause more serious types of OI and it has been claimed that DI should be a marker for qualitative defected collagen. It has also been supposed that normal development of teeth may be more dependent on normal α2(I) than normal α1(I) chains which are encoded by COLIA2 and COLIA1 ge...

ba0001pp281 | Genetics | ECTS2013

Role of the functional Toll-like receptor-3 promoter polymorphism in the increased risk of osteoarthritis

Su Sui-Lung , Yang Hsin-Yi

Toll-like receptors (TLRs) appear to be involved in the pathogenesis of osteoarthritis (OA) and recent studies have suggested that polymorphisms in TLR9, an endosomal TLR are associated with knee OA in at least one population. TLR3 is also found on the surface of endosomes where they respond primarily to nucleic acid based pathogen-associated molecular patterns (PAMPs) from viruses and bacteria. We therefore determined the predictive value of TLR3 gene polymorphisms and furthe...

ba0001pp282 | Genetics | ECTS2013

Phenotypic dissection of bone mineral density facilitates the identification of skeletal site specificity on the genetic regulation of bone

Kemp John P , Medina-Gomez Carolina , Estrada Karol , Heppe Denise , Zillikens Carola , Timpson Nicholas , Pourcain Beate , Ring Susan , Hofman Albert , Jaddoe Vincent V W , Smith George Davey , Uitterlinden Andre G , Tobias Jonathan H , Rivadeneira Fernando , Evans David M

Heritability of bone mineral density (BMD) varies at skeletal sites, possibly reflecting different relative contributions of environmental and genetic influences. To quantify shared genetic influences across different sites, we estimated the genetic correlation of BMD at the upper limb (UL), lower limb (LL), and skull (S) obtained from whole body DXA scans, using bivariate genome-wide complex trait analysis (GCTA). The study (n=9395) combined data from the Avon Longit...

ba0001pp283 | Genetics | ECTS2013

Discovery and replication of several loci significantly associated with lean body mass: a large meta-analysis of genome wide association studies (GWAS) from the ‘charge’ and ‘gefos’ consortia

Kiel Douglas P , Yerges-Armstrong Laura M , Hsu Yi-Hsiang , Stolk Lisette , Karasik David , Loos Ruth J F , Gudnason Vilmundar , Smith Albert , O'Connell Jeffrey R , Fu Amish , Fu Mao , Streeten Elizabeth A , Cauley Jane A , Robbins John A , Psaty Bruce , Johnson Toby , Kutalik Zoltan , Mitchell Braxton D , Livshits Gregory , Harris Tamara B , Ohlsson Claes , Zillikens M Carola

Introduction: The creatine kinase (CK) is a dimeric enzyme, involved in energetical metabolism. It is present in many tissues, but higher concentration in skeletal and cardiac muscle.Therefore, conditions that involve muscle tissue may increase this serum enzyme. Such enzyme elevation is usually observed in inflammatory myopathies and others autoimmune diseases.Sometimes some elevation in CK is not fully understood out off these co...