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Article

Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone.

Bone - 1 Oct 2012

Michou Laëtitia, Conceição Natércia, Morissette Jean, Gagnon Edith, Miltenberger-Miltenyi Gabriel, Siris Ethel S, Brown Jacques P, Cancela M Leonor

Abstract excerpt

We performed a genetic association study of rare variants and single nucleotide polymorphisms (SNPs) of UCMA/GRP and OPTN genes, in French-Canadian patients with Paget's disease of bone (PDB) and in healthy controls from the same population. We reproduced the variant found in the UCMA/GRP basal promoter and tested its functionality using in vitro transient transfection assays. Interestingly, this SNP rs17152980...

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Identifiers

PMID: 22796589
DOI: 10.1016/j.bone.2012.06.028
PMCID: PMC3517656

Genes

OPTN
GRP
UCMA

Provenance

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Related research

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Research trail→

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Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone.PMID 22796589Read ↗

Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone.Semantic proximity Read ↗

Identification of rare genetic variants in novel loci associated with Paget's disease of bone.Semantic proximity Read ↗

Molecular effect of an OPTN common variant associated to Paget's disease of bone.Semantic proximity Read ↗

Genetics of Paget’s disease of boneSemantic proximity Read ↗

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.Semantic proximity Read ↗

The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes.Semantic proximity Read ↗

Genetic association study of Dickkopf-1 and sclerostin genes with paget disease of bone.Semantic proximity Read ↗

Genetics of Paget's disease of bone.Semantic proximity Read ↗

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.Semantic proximity Read ↗

Genetic Determinants of Paget's Disease of Bone.Semantic proximity Read ↗

Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.Semantic proximity Read ↗

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