Familial cases of Mexican patients with Legg-Calvé-Perthes disease

Abstract BackgroundLegg-Calvé-Perthes Disease (LCPD) is described as an avascular necrosis of the femoral head. Although its etiology is still not fully understood, evidences suggest heritable thrombotic disorders and other factors may be implicated in its onset and progress. Our objective is to describe, in three enrolled families, the genetic, biochemical and environmental factors that may be associated with the etiology and development of LCPD. MethodsTherefore, we set out to evaluate the following alterations of collagen genes: MTHFR rs1801133, CBS rs115742905, and PT rs1799963 and their relationship with LCPD. Thrombophilia associated markers (FI, FII, FV, FVII, FVIII, FIX, FX, FXI, FXII, FvW, PC, PS, AT, and homocysteine) were evaluated using coagulometry methods. Results: Seven LCPD patients and 14 healthy volunteers were enrolled. Concentrations in hemoglobin (p ≤ 0.0001), fibrinogen (P ≤ 0.0001), homocysteine (p = 0.0414), factor IX activity percentage (p ≤ 0.0001), and protein S (p = 0.0478) showed statistically significant differences. None of the evaluated polymorphisms showed statistically significant differences. However, all patients presented the mutated MTHFR C677T polymorphism in a homozygous (T/T) or heterozygous manner (C/T).ConclusionsOur results show environmental elements from every family and hemostatic disorders may be involved in suffering and developing LCPD. Also, heritable factors could contribute to the onset of the disease. Clearly, environmental, genetic, and prothrombotic factors are involved in this pathology.

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Association between MTHFR C677T polymorphism and osteonecrosis of the femoral head: a meta-analysis

Molecular Biology Reports ◽

10.1007/s11033-012-1540-0 ◽

2012 ◽

Vol 39 (6) ◽

pp. 7089-7094 ◽

Cited By ~ 10

Author(s):

Xi-fu Shang ◽

Hong Su ◽

Wei-wei Chang ◽

Chen-cheng Wang ◽

Qin Han ◽

...

Keyword(s):

Femoral Head ◽

Meta Analysis ◽

Mthfr C677t ◽

C677t Polymorphism ◽

Mthfr C677t Polymorphism

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Association between MTHFR C677T polymorphism and non-traumatic osteonecrosis of the femoral head: An update meta-analysis

Pteridines ◽

10.1515/pteridines-2020-0005 ◽

2020 ◽

Vol 31 (1) ◽

pp. 38-45 ◽

Cited By ~ 1

Author(s):

Tao Zhang ◽

Shanshan Ye ◽

Zhenzhong Chen ◽

Yunmiao Ma

Keyword(s):

Femoral Head ◽

Publication Bias ◽

Meta Analysis ◽

Mthfr C677t ◽

Cochrane Central Register ◽

C677t Polymorphism ◽

Mthfr C677t Polymorphism ◽

Funnel Plot ◽

Central Register ◽

Statistical Heterogeneity

AbstractObjective To investigate the correlation between MTHFR C677T polymorphism and non-traumatic osteonecrosis of the femoral head.Methods Open published studies relevant to MTHFR C677T polymorphism and non-traumatic osteonecrosis of the femoral head were electronic systematic searched in the databases of cochrane central register of controlled trials, EMBSE and CNKI. The correlation between MTHFR C677T polymorphism and non-traumatic osteonecrosis of the femoral head was calculated by odds ratio (OR) and corresponding 95% confidence interval (95%CI). The publication bias for the included studies were assessed by Begg’s funnel plot and Egger’s line regression text.Results After systematic searching the electronic databases, 11 original studies were finally included the present work. The I2 test indicated significant statistical heterogeneity (I2=53.5%, P=0.018) across the included 11 publications. The polled results indicated that subjects of Caucasians with CC genotype had decreased risk of developing non-traumatic osteonecrosis of the femoral head (OR=0.65,95%CI: 0.44-0.96, P=0.031). However, there was no correlations between MTHFR C677T polymorphism and non-traumatic osteonecrosis of the femoral head in American Jewish and East Asian races(p>0.05). Sensitivity analysis indicated the pooled ORs were not sensitive to any included single study. The Begg’s funnel plot was generally left and right symmetrical which indicated no obviously publications. The Egger’s line regression test also demonstrated no statistical publication bias (t=1.57, P=0.15).Conclusion According to the present evidence, MTHFR C677T polymorphism was correlated with non-traumatic osteonecrosis of the femoral head especially for Caucasians race. Subjects of Caucasians race with CC genotype had decreased risk of developing non-traumatic osteonecrosis of the femoral head.

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Association of MTHFR rs1801133 and Homocysteine With Legg-Calvé-Perthes Disease in Mexican Patients

10.21203/rs.3.rs-966812/v1 ◽

2021 ◽

Author(s):

José Guillermo Buendía Pazarán ◽

Edgar Hernández Zamora ◽

Armando Odiseo Rodríguez-Olivas ◽

Leonora Casas Ávila ◽

Margarita Valdés Flores ◽

...

Keyword(s):

Mthfr C677t ◽

Recessive Model ◽

Perthes Disease ◽

C677t Polymorphism ◽

Avascular Osteonecrosis ◽

Mthfr C677t Polymorphism ◽

Mexican Children ◽

Hardy Weinberg Equilibrium ◽

Student’S T ◽

Unclear Etiology

Abstract Background: Legg-Calvé-Perthes disease (LCPD) is an avascular osteonecrosis of the femoral epiphysis. It is a rare disease of unclear etiology in children. Alterations in coagulation, or the collagen gene have been described and could be associated with its etiology. Therefore, we set out to evaluate the following alterations: COL1A1 (rs1107946, rs2412298), COL2A1 (rs121912891 and rs387106558), MTHFR rs1801133, CBS rs115742905, and PT rs1799963 and their relationship with LCPD.Methods: DNA was obtained and genotyped by real-time PCR with TaqMan probes. It was determined prothrombin and homocysteine (Hcy) 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. In addition, the Hardy-Weinberg equilibrium, and OR.Results: 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.Conclusion: 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.

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