TY - JOUR
T1 - Genetic Variation in the TNFRSF11A Gene Encoding RANK Is Associated With Susceptibility to Paget's Disease of Bone
AU - Chung, Pui Yan Jenny
AU - Beyens, Greet
AU - Riches, Philip L.
AU - Van Wesenbeeck, Liesbeth
AU - de Freitas, Fenna
AU - Jennes, Karen
AU - Daroszewska, Anna
AU - Fransen, Erik
AU - Boonen, Steven
AU - Geusens, Piet
AU - Vanhoenacker, Filip
AU - Verbruggen, Leon
AU - Van Offel, Jan
AU - Goemaere, Stefan
AU - Zmierczak, Hans-Georg
AU - Westhovens, Rene
AU - Karperien, Marcel
AU - Papapoulos, Socrates
AU - Ralston, Stuart H.
AU - Devogelaer, Jean-Pierre
AU - Van Hul, Wim
PY - 2010/12
Y1 - 2010/12
N2 - RANK (receptor activator of nuclear factor-?B), 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?
AB - RANK (receptor activator of nuclear factor-?B), 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?
KW - TNFRSF11A
KW - RANK
KW - PAGET'S DISEASE OF BONE
KW - GENETIC VARIANTS
KW - SEX-DEPENDENT EFFECT
U2 - 10.1002/jbmr.162
DO - 10.1002/jbmr.162
M3 - Article
C2 - 20564239
SN - 0884-0431
VL - 25
SP - 2592
EP - 2605
JO - Journal of Bone and Mineral Research
JF - Journal of Bone and Mineral Research
IS - 12
ER -