DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Paget's disease. The EFO term osteitis deformans was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: osteitis deformans

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

OM Albagha, SE Wani, MR Visconti, N Alonso, K Goodman, ML Brandi, T Cundy, PY Chung, R Dargie, JP Devogelaer, A Falchetti, WD Fraser, L Gennari, F Gianfrancesco, MJ Hooper, W Van Hul, G Isaia, GC Nicholson, R Nuti, S Papapoulos, Jdel P Montes, T Ratajczak, SL Rea, D Rendina, R Gonzalez-Sarmiento, M Di Stefano, LC Ward, JP Walsh, SH Ralston

TITLE:

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

JOURNAL:

Nature genetics May 2011, Vol 43, pp. 685-9

ABSTRACT:

Paget's disease of bone (PDB) is a common disorder characterized by focal abnormalities of bone remodeling. We previously identified variants at the CSF1, OPTN and TNFRSF11A loci as risk factors for PDB by genome-wide association study. Here we extended this study, identified three new loci and confirmed their association with PDB in 2,215 affected individuals (cases) and 4,370 controls from seven independent populations. The new associations were with rs5742915 within PML on 15q24 (odds ratio (OR) = 1.34, P = 1.6 × 10(-14)), rs10498635 within RIN3 on 14q32 (OR = 1.44, P = 2.55 × 10(-11)) and rs4294134 within NUP205 on 7q33 (OR = 1.45, P = 8.45 × 10(-10)). Our data also confirmed the association of TM7SF4 (rs2458413, OR = 1.40, P = 7.38 × 10(-17)) with PDB. These seven loci explained ∼13% of the familial risk of PDB. These studies provide new insights into the genetic architecture and pathophysiology of PDB. PUBMED: 21623375
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