Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin

Anna Daroszewska; Lynne J Hocking; Fiona E A McGuigan; Bente Langdahl; Michael D Stone; Tim Cundy; Geoff C Nicholson; William D Fraser; Stuart H Ralston

doi:10.1359/JBMR.040602

Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin

Anna Daroszewska, Lynne J Hocking, Fiona E A McGuigan, Bente Langdahl, Michael D Stone, Tim Cundy, Geoff C Nicholson, William D Fraser, Stuart H Ralston

Research output: Contribution to journal › Article › peer-review

56 Citations (Scopus)

Abstract

To clarify the role of the TNFRSF11B gene encoding osteoprotegerin (OPG), in Paget's disease of bone (PDB) we studied TNFRSF11B polymorphisms in an association study of 690 UK subjects and in a worldwide familial study of 66 kindreds. We found that the G1181 allele of TNFRSF11B, encoding lysine at codon 3 of the OPG protein, predisposes to both sporadic and familial PDB.

Original language	English
Pages (from-to)	1506-1511
Number of pages	6
Journal	Journal of Bone and Mineral Research
Volume	19
Issue number	9
DOIs	https://doi.org/10.1359/JBMR.040602
Publication status	Published - Sep 2004

Keywords

Aged
Aged, 80 and over
Case-Control Studies
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Humans
Male
Osteitis Deformans
Osteoprotegerin
Polymorphism, Single Nucleotide
Receptors, Tumor Necrosis Factor

Access to Document

10.1359/JBMR.040602

Cite this

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title = "Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin",

abstract = "To clarify the role of the TNFRSF11B gene encoding osteoprotegerin (OPG), in Paget's disease of bone (PDB) we studied TNFRSF11B polymorphisms in an association study of 690 UK subjects and in a worldwide familial study of 66 kindreds. We found that the G1181 allele of TNFRSF11B, encoding lysine at codon 3 of the OPG protein, predisposes to both sporadic and familial PDB.",

keywords = "Aged, Aged, 80 and over, Case-Control Studies, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Humans, Male, Osteitis Deformans, Osteoprotegerin, Polymorphism, Single Nucleotide, Receptors, Tumor Necrosis Factor",

author = "Anna Daroszewska and Hocking, {Lynne J} and McGuigan, {Fiona E A} and Bente Langdahl and Stone, {Michael D} and Tim Cundy and Nicholson, {Geoff C} and Fraser, {William D} and Ralston, {Stuart H}",

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language = "English",

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pages = "1506--1511",

journal = "Journal of Bone and Mineral Research",

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T1 - Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin

AU - Daroszewska, Anna

AU - Hocking, Lynne J

AU - McGuigan, Fiona E A

AU - Langdahl, Bente

AU - Stone, Michael D

AU - Cundy, Tim

AU - Nicholson, Geoff C

AU - Fraser, William D

AU - Ralston, Stuart H

PY - 2004/9

Y1 - 2004/9

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AB - To clarify the role of the TNFRSF11B gene encoding osteoprotegerin (OPG), in Paget's disease of bone (PDB) we studied TNFRSF11B polymorphisms in an association study of 690 UK subjects and in a worldwide familial study of 66 kindreds. We found that the G1181 allele of TNFRSF11B, encoding lysine at codon 3 of the OPG protein, predisposes to both sporadic and familial PDB.

KW - Aged

KW - Aged, 80 and over

KW - Case-Control Studies

KW - DNA Mutational Analysis

KW - Female

KW - Genetic Predisposition to Disease

KW - Humans

KW - Male

KW - Osteitis Deformans

KW - Osteoprotegerin

KW - Polymorphism, Single Nucleotide

KW - Receptors, Tumor Necrosis Factor

U2 - 10.1359/JBMR.040602

DO - 10.1359/JBMR.040602

M3 - Article

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VL - 19

SP - 1506

EP - 1511

JO - Journal of Bone and Mineral Research

JF - Journal of Bone and Mineral Research

SN - 0884-0431

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ER -