Morphology Department, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional (ENCB, IPN), Prolongación de Carpio y Plan de Ayala s/n, Col. Santo Tomás, Miguel Hidalgo, C.P. 11340, Mexico City, Mexico.
Genomic Medicine, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra" (INR-LGII), Mexico City, Mexico.
Orphanet J Rare Dis. 2022 Mar 9;17(1):123. doi: 10.1186/s13023-022-02264-2.
Legg-Calvé-Perthes disease (LCPD) is the avascular osteonecrosis of the proximal femoral epiphysis. It is a rare disease of unclear etiology in children, although alterations in coagulation or the collagen gene have been described and could be associated with its etiology. Our objective was to evaluate the following alterations: COL1A1 (rs1107946, rs2412298), COL2A1 (rs121912891 and rs387106558), MTHFR rs1801133, CBS rs115742905, and PT rs1799963 and their relationship with LCPD.
DNA was obtained and genotyped by real-time PCR with TaqMan probes. Prothrombin (FII) and homocysteine (Hcy) were determined by a coagulometric method. The variables were described as mean and standard deviation or percentages, and genotypic and allelic distributions were analyzed using the Student's t-test. The Hardy-Weinberg equilibrium and OR were also used.
We studied 23 patients with LCPD and 46 controls. We did not find any association of the MTHFR, CBS, PT, COL1A1, and COL2A1 genetic variants with LCPD. However, when adjusting the data with the Hcy values for the MTHFR C677T polymorphism, the C/C genotypes showed an association with the recessive model (p = 0.038), with susceptibility to LCPD.
No association was found with the CBS, PT, COL1A1, and COL2A1 genes. Nevertheless, our results suggest a significant link between moderately elevated Hcy levels and the MTHFR C677T polymorphism in a cohort of Mexican children with LCPD.
Legg-Calvé-Perthes 病（LCPD）是一种儿童罕见的股骨头骨骺缺血性坏死疾病，其病因不明。虽然已有研究描述了凝血或胶原蛋白基因突变可能与其病因相关。本研究旨在评估 COL1A1（rs1107946、rs2412298）、COL2A1（rs121912891 和 rs387106558）、MTHFR rs1801133、CBS rs115742905、PT rs1799963 等基因的改变及其与 LCPD 的关系。
采用 TaqMan 探针实时 PCR 法提取 DNA 并进行基因分型。采用凝血法测定凝血酶原（FII）和同型半胱氨酸（Hcy）。变量用均值和标准差或百分比表示，采用 Student's t 检验分析基因型和等位基因分布。还使用了 Hardy-Weinberg 平衡和 OR。
我们研究了 23 例 LCPD 患者和 46 例对照。我们没有发现 MTHFR、CBS、PT、COL1A1 和 COL2A1 基因的遗传变异与 LCPD 有关。然而，当根据 MTHFR C677T 多态性的 Hcy 值调整数据时，C/C 基因型与隐性模型相关（p=0.038），提示 LCPD 的易感性。
没有发现 CBS、PT、COL1A1 和 COL2A1 基因与 LCPD 相关。然而，我们的结果表明，在一组墨西哥儿童 LCPD 患者中，中度升高的 Hcy 水平与 MTHFR C677T 多态性之间存在显著关联。
