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Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone
- Source :
- Journal of bone and mineral research, Journal of bone and mineral research, 25(12), 2316-2329. Wiley-Blackwell, Journal of Bone and Mineral Research, 25(12). Wiley, Journal of Bone and Mineral Research, 25(12), 2316-2329
- Publication Year :
- 2010
-
Abstract
- RANK (receptor activator of nuclear factor-κB), encoded by TNFRSF11A, is a key protein in osteoclastogenesis. TNFRSF11A mutations cause Paget's disease of bone (PDB)–like diseases (ie, familial expansile osteolysis, expansile skeletal hyperphosphatasia, and early-onset PDB) and an osteoclast-poor form of osteopetrosis. However, no TNFRSF11A mutations have been found in classic PDB, neither in familial nor in isolated cases. To investigate the possible relationship between TNFRSF11A polymorphisms and sporadic PDB, we conducted an association study including 32 single-nucleotide polymorphisms (SNPs) in 196 Belgian sporadic PDB patients and 212 control individuals. Thirteen SNPs and 3 multimarker tests (MMTs) turned out to have a p value of between .036 and 3.17 × 10−4, with the major effect coming from females. Moreover, 6 SNPs and 1 MMT withstood the Bonferroni correction (p
- Subjects :
- Adult
Male
Quality Control
Genetic variants
Endocrinology, Diabetes and Metabolism
Single-nucleotide polymorphism
Disease
Biology
Genetic analysis
Polymorphism, Single Nucleotide
Belgium
Meta-Analysis as Topic
Genes, Reporter
Genetic variation
medicine
SNP
TNFRSF11A RANK PAGET'S DISEASE OF BONE GENETIC VARIANTS SEX-DEPENDENT EFFECT familial expansile osteolysis chromosome 18q sqstm1 mutations measles-virus postmenopausal women sequestosome-1 gene functional-analysis tandem duplication domain mutations british descent
Humans
Orthopedics and Sports Medicine
Genetic Predisposition to Disease
Luciferases
Aged
Genetics
Aged, 80 and over
Receptor Activator of Nuclear Factor-kappa B
Haplotype
NF-kappa B
TNFRSF11A
Genetic Variation
Reproducibility of Results
Osteopetrosis
Exons
Sequence Analysis, DNA
Middle Aged
medicine.disease
Osteitis Deformans
Rank
Introns
sex-dependent effect
Paget's disease of bone
Genetics, Population
Haplotypes
METIS-273457
Female
Human medicine
Subjects
Details
- ISSN :
- 15234681 and 08840431
- Volume :
- 25
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
- Accession number :
- edsair.doi.dedup.....61337aa35abe07b3c917e66233a31206