Abstract |
The etiology of Perthes' disease is unclear. Recent reports have suggested that inheritable thrombophilic disorders may be one of its pathogenetic causes. The G20210A prothrombin gene, factor V Leiden, and MTHFR C677T mutations have been identified as predisposing genetic factors for thrombosis. Ninety children diagnosed with Perthes' disease were studied. A family history of thrombosis and any other personal thromboembolic events were researched. PCR and endonuclease digestion were used to analyze factor V Leiden, prothrombin G20210A, and MTHFR C677T. Two hundred healthy donors were included as a control group. No patient had a family or personal history of early thrombotic events. Four children with Perthes' disease (4.4%) were heterozygous for G20210A polymorphism compared with controls (odds ratio: 2.07; 95% confidence interval: 0.40-8.46). No association between factor V Leiden and Perthes' disease was observed. Three patients (3.33%) were heterozygous for factor V Leiden (odds ratio: 1.36; 95% confidence interval: 0.32-5.84). The prevalence of different genotypes of C677T MTHFR did not show statistical differences compared with controls. Eleven patients were homozygous for this polymorphism (odds ratio: 1.02; 95% confidence interval: 0.42-2.44). This study does not support the screening of this group of polymorphism in patients with Perthes' disease.
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Authors | Mariano López-Franco, Gaspar González-Morán, José Carlos De Lucas Jr, Pilar Llamas, Jaime Fernández de Velasco, José Carlos Vivancos, Tomás Epeldegui-Torre |
Journal | Journal of pediatric orthopedics
(J Pediatr Orthop)
2005 Jul-Aug
Vol. 25
Issue 4
Pg. 456-9
ISSN: 0271-6798 [Print] United States |
PMID | 15958894
(Publication Type: Comparative Study, Journal Article)
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Chemical References |
- factor V Leiden
- Factor V
- Prothrombin
- DNA
- Methylenetetrahydrofolate Reductase (NADPH2)
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Topics |
- Adolescent
- Adult
- Child
- DNA
(analysis)
- Electrophoresis, Agar Gel
- Factor V
(genetics, metabolism)
- Female
- Genetic Predisposition to Disease
- Genotype
- Humans
- Legg-Calve-Perthes Disease
(blood, etiology, genetics)
- Male
- Methylenetetrahydrofolate Reductase (NADPH2)
(blood, genetics)
- Middle Aged
- Mutation
- Odds Ratio
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Prothrombin
(genetics, metabolism)
- Thrombophilia
(blood, complications, congenital)
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