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Heritability patterns in hand osteoarthritis: the role of osteophytes

INTRODUCTION: The objective of the present study was to assess heritability of clinical and radiographic features of hand osteoarthritis (OA) in affected patients and their siblings. METHODS: A convenience sample of patients with clinical and radiographic hand OA and their siblings were evaluated by...

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Autores principales: Ishimori, Mariko L, Altman, Roy D, Cohen, Myles J, Cui, Jinrui, Guo, Xiuqing, Rotter, Jerome I, Weisman, Michael H
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2991011/
https://www.ncbi.nlm.nih.gov/pubmed/20920163
http://dx.doi.org/10.1186/ar3144
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author Ishimori, Mariko L
Altman, Roy D
Cohen, Myles J
Cui, Jinrui
Guo, Xiuqing
Rotter, Jerome I
Weisman, Michael H
author_facet Ishimori, Mariko L
Altman, Roy D
Cohen, Myles J
Cui, Jinrui
Guo, Xiuqing
Rotter, Jerome I
Weisman, Michael H
author_sort Ishimori, Mariko L
collection PubMed
description INTRODUCTION: The objective of the present study was to assess heritability of clinical and radiographic features of hand osteoarthritis (OA) in affected patients and their siblings. METHODS: A convenience sample of patients with clinical and radiographic hand OA and their siblings were evaluated by examination and radiography. Radiographs were scored for hand OA features by radiographic atlas. The heritability of hand OA phenotypes was assessed for clinical and radiographic measures based on anatomic locations and radiographic characteristics. Phenotypic data were transformed to reduce non-normality, if necessary. A variance components approach was used to calculate heritability. RESULTS: One hundred and thirty-six probands with hand OA and their sibling(s) were enrolled. By anatomic location, the highest heritability was seen with involvement of the first interphalangeal joint (h(2 )= 0.63, P = 0.00004), the first carpometacarpal joint (h(2 )= 0.38, P = 0.01), the distal interphalangeal joints (h(2 )= 0.36, P = 0.02), and the proximal interphalangeal joints (h(2 )= 0.30, P = 0.03) with osteophytes. The number and severity of joints with osteophyte involvement was heritable overall (h(2 )= 0.38, P = 0.008 for number and h(2 )= 0.35, P = 0.01 for severity) and for all interphalangeal joints (h(2 )= 0.42, P = 0.004 and h(2 )= 0.33, P = 0.02). The severity of carpometacarpal joint involvement was also heritable (h(2 )= 0.53, P = 0.0006). Similar results were obtained when the analysis was limited to the Caucasian sample. CONCLUSIONS: In a population with clinical and radiographic hand OA and their siblings, the presence of osteophytes was the most sensitive biomarker for hand OA heritability. Significant heritability was detected for anatomic phenotypes by joint location, severity of joint involvement with osteophytes as well as for overall number and degree of hand OA involvement. These findings are in agreement with the strong genetic predisposition for hand OA reported by others. The results support phenotyping based on severity of osteophytes and a joint-specific approach. More specific phenotypes may hold greater promise in the study of genetics in hand OA.
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spelling pubmed-29910112010-11-25 Heritability patterns in hand osteoarthritis: the role of osteophytes Ishimori, Mariko L Altman, Roy D Cohen, Myles J Cui, Jinrui Guo, Xiuqing Rotter, Jerome I Weisman, Michael H Arthritis Res Ther Research Article INTRODUCTION: The objective of the present study was to assess heritability of clinical and radiographic features of hand osteoarthritis (OA) in affected patients and their siblings. METHODS: A convenience sample of patients with clinical and radiographic hand OA and their siblings were evaluated by examination and radiography. Radiographs were scored for hand OA features by radiographic atlas. The heritability of hand OA phenotypes was assessed for clinical and radiographic measures based on anatomic locations and radiographic characteristics. Phenotypic data were transformed to reduce non-normality, if necessary. A variance components approach was used to calculate heritability. RESULTS: One hundred and thirty-six probands with hand OA and their sibling(s) were enrolled. By anatomic location, the highest heritability was seen with involvement of the first interphalangeal joint (h(2 )= 0.63, P = 0.00004), the first carpometacarpal joint (h(2 )= 0.38, P = 0.01), the distal interphalangeal joints (h(2 )= 0.36, P = 0.02), and the proximal interphalangeal joints (h(2 )= 0.30, P = 0.03) with osteophytes. The number and severity of joints with osteophyte involvement was heritable overall (h(2 )= 0.38, P = 0.008 for number and h(2 )= 0.35, P = 0.01 for severity) and for all interphalangeal joints (h(2 )= 0.42, P = 0.004 and h(2 )= 0.33, P = 0.02). The severity of carpometacarpal joint involvement was also heritable (h(2 )= 0.53, P = 0.0006). Similar results were obtained when the analysis was limited to the Caucasian sample. CONCLUSIONS: In a population with clinical and radiographic hand OA and their siblings, the presence of osteophytes was the most sensitive biomarker for hand OA heritability. Significant heritability was detected for anatomic phenotypes by joint location, severity of joint involvement with osteophytes as well as for overall number and degree of hand OA involvement. These findings are in agreement with the strong genetic predisposition for hand OA reported by others. The results support phenotyping based on severity of osteophytes and a joint-specific approach. More specific phenotypes may hold greater promise in the study of genetics in hand OA. BioMed Central 2010 2010-09-28 /pmc/articles/PMC2991011/ /pubmed/20920163 http://dx.doi.org/10.1186/ar3144 Text en Copyright ©2010 Ishimori et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Ishimori, Mariko L
Altman, Roy D
Cohen, Myles J
Cui, Jinrui
Guo, Xiuqing
Rotter, Jerome I
Weisman, Michael H
Heritability patterns in hand osteoarthritis: the role of osteophytes
title Heritability patterns in hand osteoarthritis: the role of osteophytes
title_full Heritability patterns in hand osteoarthritis: the role of osteophytes
title_fullStr Heritability patterns in hand osteoarthritis: the role of osteophytes
title_full_unstemmed Heritability patterns in hand osteoarthritis: the role of osteophytes
title_short Heritability patterns in hand osteoarthritis: the role of osteophytes
title_sort heritability patterns in hand osteoarthritis: the role of osteophytes
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2991011/
https://www.ncbi.nlm.nih.gov/pubmed/20920163
http://dx.doi.org/10.1186/ar3144
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