Bone morphogenetic protein 6 polymorphisms are associated with radiographic progression in ankylosing spondylitis.

Nearly 25 genetic loci associated with susceptibility to ankylosing spondylitis (AS) have been identified by several large studies. However, there have been limited studies to identify the genes associated with radiographic severity of the disease. Thus we investigated which genes involved in bone f...

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Main Authors: Young Bin Joo, So-Young Bang, Tae-Hwan Kim, Seung-Cheol Shim, Seunghun Lee, Kyung Bin Joo, Jong Heon Kim, Hye Joon Min, Proton Rahman, Robert D Inman
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4133264?pdf=render
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author Young Bin Joo
So-Young Bang
Tae-Hwan Kim
Seung-Cheol Shim
Seunghun Lee
Kyung Bin Joo
Jong Heon Kim
Hye Joon Min
Proton Rahman
Robert D Inman
author_facet Young Bin Joo
So-Young Bang
Tae-Hwan Kim
Seung-Cheol Shim
Seunghun Lee
Kyung Bin Joo
Jong Heon Kim
Hye Joon Min
Proton Rahman
Robert D Inman
author_sort Young Bin Joo
collection DOAJ
description Nearly 25 genetic loci associated with susceptibility to ankylosing spondylitis (AS) have been identified by several large studies. However, there have been limited studies to identify the genes associated with radiographic severity of the disease. Thus we investigated which genes involved in bone formation pathways might be associated with radiographic severity in AS.A total of 417 Korean AS patients were classified into two groups based on the radiographic severity as defined by the modified Stoke' Ankylosing Spondylitis Spinal Score (mSASSS) system. Severe AS was defined by the presence of syndesmophytes and/or fusion in the lumbar or cervical spine (n = 195). Mild AS was defined by the absence of any syndesmophyte or fusion (n = 170). A total of 251 single nucleotide polymorphisms (SNPs) within 52 genes related to bone formation were selected and genotyped. Odds ratios (OR) and 95% confidence interval (95% CI) were analysed by multivariate logistic regression controlling for age at onset of symptoms, sex, disease duration, and smoking status as covariates.We identified new loci of bone morphogenetic protein 6 (BMP6) associated with radiographic severity in patients with AS that passed false discovery rate threshold. Two SNPs in BMP6 were significantly associated with radiologic severity [rs270378 (OR 1.97, p = 6.74 × 10(-4)) and rs1235192 [OR 1.92, p = 1.17 × 10(-3)]) adjusted by covariates.This is the first study to demonstrate that BMP6 is associated with radiographic severity in AS, supporting the role wingless-type like/BMP pathway on radiographic progression in AS.
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spelling doaj.art-2452ec89db594fa6b98fba4300dec4062022-12-21T19:28:11ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0198e10496610.1371/journal.pone.0104966Bone morphogenetic protein 6 polymorphisms are associated with radiographic progression in ankylosing spondylitis.Young Bin JooSo-Young BangTae-Hwan KimSeung-Cheol ShimSeunghun LeeKyung Bin JooJong Heon KimHye Joon MinProton RahmanRobert D InmanNearly 25 genetic loci associated with susceptibility to ankylosing spondylitis (AS) have been identified by several large studies. However, there have been limited studies to identify the genes associated with radiographic severity of the disease. Thus we investigated which genes involved in bone formation pathways might be associated with radiographic severity in AS.A total of 417 Korean AS patients were classified into two groups based on the radiographic severity as defined by the modified Stoke' Ankylosing Spondylitis Spinal Score (mSASSS) system. Severe AS was defined by the presence of syndesmophytes and/or fusion in the lumbar or cervical spine (n = 195). Mild AS was defined by the absence of any syndesmophyte or fusion (n = 170). A total of 251 single nucleotide polymorphisms (SNPs) within 52 genes related to bone formation were selected and genotyped. Odds ratios (OR) and 95% confidence interval (95% CI) were analysed by multivariate logistic regression controlling for age at onset of symptoms, sex, disease duration, and smoking status as covariates.We identified new loci of bone morphogenetic protein 6 (BMP6) associated with radiographic severity in patients with AS that passed false discovery rate threshold. Two SNPs in BMP6 were significantly associated with radiologic severity [rs270378 (OR 1.97, p = 6.74 × 10(-4)) and rs1235192 [OR 1.92, p = 1.17 × 10(-3)]) adjusted by covariates.This is the first study to demonstrate that BMP6 is associated with radiographic severity in AS, supporting the role wingless-type like/BMP pathway on radiographic progression in AS.http://europepmc.org/articles/PMC4133264?pdf=render
spellingShingle Young Bin Joo
So-Young Bang
Tae-Hwan Kim
Seung-Cheol Shim
Seunghun Lee
Kyung Bin Joo
Jong Heon Kim
Hye Joon Min
Proton Rahman
Robert D Inman
Bone morphogenetic protein 6 polymorphisms are associated with radiographic progression in ankylosing spondylitis.
PLoS ONE
title Bone morphogenetic protein 6 polymorphisms are associated with radiographic progression in ankylosing spondylitis.
title_full Bone morphogenetic protein 6 polymorphisms are associated with radiographic progression in ankylosing spondylitis.
title_fullStr Bone morphogenetic protein 6 polymorphisms are associated with radiographic progression in ankylosing spondylitis.
title_full_unstemmed Bone morphogenetic protein 6 polymorphisms are associated with radiographic progression in ankylosing spondylitis.
title_short Bone morphogenetic protein 6 polymorphisms are associated with radiographic progression in ankylosing spondylitis.
title_sort bone morphogenetic protein 6 polymorphisms are associated with radiographic progression in ankylosing spondylitis
url http://europepmc.org/articles/PMC4133264?pdf=render
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