PlA2 Polymorphism of Platelet Glycoprotein IIb/IIIa and C677T Polymorphism of Methylenetetrahydrofolate Reductase (<i>MTHFR</i>), but Not Factor V Leiden and Prothrombin G20210A Polymorphisms, Are Associated with More Severe Forms of Legg-Calvé-Perthes Disease
The possible association of common polymorphic variants related to thrombophilia (the rs6025(A) allele encoding the Leiden mutation, rs1799963(A), i.e., the G20210A mutation of the prothrombin <i>F2</i> gene, the rs1801133(T) variant of the methylenetetrahydrofolate reductase (<i>M...
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| Main Authors: | , , , , , |
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| Format: | Book |
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MDPI AG,
2021-07-01T00:00:00Z.
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| Summary: | The possible association of common polymorphic variants related to thrombophilia (the rs6025(A) allele encoding the Leiden mutation, rs1799963(A), i.e., the G20210A mutation of the prothrombin <i>F2</i> gene, the rs1801133(T) variant of the methylenetetrahydrofolate reductase (<i>MTHFR)</i> gene that encodes an enzyme involved in folate metabolism, and rs5918(C), i.e., the 'A2' allele of the platelet-specific alloantigen system that increases platelet aggregation induced by agonists), with the risk of Legg-Calvé-Perthes disease (LCPD) and the degree of hip involvement (Catterall stages I to IV) was analyzed in a cohort study, including 41 children of ages 2 to 10.9 (mean 5.4, SD 2.2), on the basis of clinical and radiological criteria of LCPD. In 10 of the cases, hip involvement was bilateral; thus, a total of 51 hips were followed-up for a mean of 75.5 months. The distribution of genotypes among patients and 118 controls showed no significant differences, with a slightly increased risk for LCPD in rs6025(A) carriers (OR: 2.9, CI: 0.2-47.8). Regarding the severity of LCPD based on Catterall classification, the rs1801133(T) variant of the <i>MTHFR</i> gene and the rs5918(C) variant of the platelet glycoprotein IIb/IIIa were associated with more severe forms of Perthes disease (Catterall III-IV) (<i>p</i> < 0.05). The four children homozygous for mutated <i>MTHFR</i> had a severe form of the disease (Stage IV of Catterall) and a higher risk of non-favorable outcome (Stulberg IV-V). |
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| Item Description: | 10.3390/children8070614 2227-9067 |