A twin study of Perthes disease
<h4>Background</h4> <p>Legg-Calvé-Perthes Disease (LCPD) is an idiopathic avascular necrosis of the femoral head. Its aetiology is poorly understood, although previous studies have implicated low birth weight and possible genetic determinants. The aim of this study was to identify...
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| Format: | Journal article |
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American Academy of Pediatrics
2016
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| _version_ | 1797090618060570624 |
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| author | Metcalfe, D Van Dijck, S Parsons, N Christensen, K Perry, D |
| author_facet | Metcalfe, D Van Dijck, S Parsons, N Christensen, K Perry, D |
| author_sort | Metcalfe, D |
| collection | OXFORD |
| description | <h4>Background</h4> <p>Legg-Calvé-Perthes Disease (LCPD) is an idiopathic avascular necrosis of the femoral head. Its aetiology is poorly understood, although previous studies have implicated low birth weight and possible genetic determinants. The aim of this study was to identify potential birth weight and genetic associations with LCPD.</p> <h4>Methods</h4> <p>We extracted all twin pairs from the Danish Twin Registry (DTR) in which at least one individual had LCPD. The DTR captures every twin pair born alive in Denmark and those with LCPD were identified using health record linkage. Probandwise concordance was calculated to describe the likelihood that any given individual had LCPD if their co-twin was also diagnosed.</p> <h4>Results</h4> <p>There were 81 twin pairs; 10 monozygotic (MZ), 51 dizygotic (DZ), and 20 unclassified (UZ). There was no association between birth weight and being the affected co-twin. Four pairs (two dizygotic and two unclassified) were concordant for LCPD, which is greater than would be expected assuming no familial aggregation. There were no concordant MZ twin pairs. The overall probandwise concordance was 0.09 (95% CI 0.01-0.18): 0.00 for the MZ, 0.08 (95% CI 0.00-0.18) for the DZ, and 0.18 (95% 0.00-0.40) for the UZ twin pairs.</p> <h4>Conclusions</h4> <p>This study found evidence of familial clustering in LCPD but did not demonstrate a genetic component. The absolute risk that a co-twin of an affected individual will develop LCPD is low, even in the case of MZ twin pairs.</p> |
| first_indexed | 2024-03-07T03:21:14Z |
| format | Journal article |
| id | oxford-uuid:b781cac8-1e0d-453d-8cac-a769f0563fd1 |
| institution | University of Oxford |
| last_indexed | 2024-03-07T03:21:14Z |
| publishDate | 2016 |
| publisher | American Academy of Pediatrics |
| record_format | dspace |
| spelling | oxford-uuid:b781cac8-1e0d-453d-8cac-a769f0563fd12022-03-27T04:49:08ZA twin study of Perthes diseaseJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:b781cac8-1e0d-453d-8cac-a769f0563fd1Symplectic Elements at OxfordAmerican Academy of Pediatrics2016Metcalfe, DVan Dijck, SParsons, NChristensen, KPerry, D<h4>Background</h4> <p>Legg-Calvé-Perthes Disease (LCPD) is an idiopathic avascular necrosis of the femoral head. Its aetiology is poorly understood, although previous studies have implicated low birth weight and possible genetic determinants. The aim of this study was to identify potential birth weight and genetic associations with LCPD.</p> <h4>Methods</h4> <p>We extracted all twin pairs from the Danish Twin Registry (DTR) in which at least one individual had LCPD. The DTR captures every twin pair born alive in Denmark and those with LCPD were identified using health record linkage. Probandwise concordance was calculated to describe the likelihood that any given individual had LCPD if their co-twin was also diagnosed.</p> <h4>Results</h4> <p>There were 81 twin pairs; 10 monozygotic (MZ), 51 dizygotic (DZ), and 20 unclassified (UZ). There was no association between birth weight and being the affected co-twin. Four pairs (two dizygotic and two unclassified) were concordant for LCPD, which is greater than would be expected assuming no familial aggregation. There were no concordant MZ twin pairs. The overall probandwise concordance was 0.09 (95% CI 0.01-0.18): 0.00 for the MZ, 0.08 (95% CI 0.00-0.18) for the DZ, and 0.18 (95% 0.00-0.40) for the UZ twin pairs.</p> <h4>Conclusions</h4> <p>This study found evidence of familial clustering in LCPD but did not demonstrate a genetic component. The absolute risk that a co-twin of an affected individual will develop LCPD is low, even in the case of MZ twin pairs.</p> |
| spellingShingle | Metcalfe, D Van Dijck, S Parsons, N Christensen, K Perry, D A twin study of Perthes disease |
| title | A twin study of Perthes disease |
| title_full | A twin study of Perthes disease |
| title_fullStr | A twin study of Perthes disease |
| title_full_unstemmed | A twin study of Perthes disease |
| title_short | A twin study of Perthes disease |
| title_sort | twin study of perthes disease |
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