Association of eNOS 27-bp VNTR, 894G&gt;T and 786T&gt;C polymorphisms with susceptibility to Legg-Calve-Perthes Disease in Iranian children

Azarpira, Mohammad Reza; Ghilian, Mohammad Mahdi; Sobhan, Mohammad Reza; Mahdinezhad-Yazdi, Masoud; Aghili, Kazem; Ahrar, Hossein; Neámatzadeh, Hossein

doi:10.1016/j.jor.2019.02.024

Cited by 14 publications

(9 citation statements)

References 25 publications

(34 reference statements)

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“…On the other hand, inflammation could play a central role in bone destruction and remodeling, leading to the appearance of LCPD as well as more severe forms of the disease [ 65 , 66 ].…”

Section: Discussionmentioning

confidence: 99%

“…Azarpira et al . , reported that the endothelial nitric oxide synthase (eNOS) polymorphisms 894G > T and -786 T > C increase the risk of suffering from LCPD (Table 3 ), and that the polymorphisms TNF-α -308G > A and TNF-α -238C > T could not be directly related to LCPD, but could be related to the development of osteonecrosis of the FH (Table 3 ) [ 65 , 66 ]. Furthermore, the eNOS is involved in numerous physiological processes, including angiogenesis, thrombosis, coagulation, and fibrinolysis, and, recently, the G894T mutation in the eNOS gene was described as a risk factor in LCPD (Table 3 ) [ 67 ].…”

Section: Methodsmentioning

confidence: 99%

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Legg–Calvé–Perthes disease overview

Rodríguez-Olivas

Hernández-Zamora

Maldonado

2022

Orphanet J Rare Dis

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Background Legg–Calvé–Perthes Disease (LCPD) is a necrosis of the femoral head which affects the range of motion of the hips. Its incidence is variable, ranging from 0.4/100,000 to 29.0/ 100,000 children. Although LCPD was first described in the beginning of the past century, limited is known about its etiology. Our objective is to describe the main areas of interest in Legg–Calve–Perthes disease. Methods A review of the literature regarding LCPD etiology was performed, considering the following inclusion criteria: Studies reporting clinical or preclinical results. The research group carried out a filtered search on the PubMed and Science Direct databases. To maximize the suitability of the search results, we combined the terms ‘‘Perthes disease” OR “LCPD” OR “children avascular femoral head necrosis” with “diagnostic” OR “treatment” OR “etiology” as either key words or MeSH terms. Results In this article been described some areas of interest in LCPD, we include topics such as: history, incidence, pathogenesis, diagnosis, treatment and possible etiology, since LCPD has an unknown etiology. Conclusions This review suggests that LCPD has a multifactorial etiology where environmental, metabolic and genetic agents could be involved.

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“…On the other hand, inflammation could play a central role in bone destruction and remodeling, leading to the appearance of LCPD as well as more severe forms of the disease [ 65 , 66 ].…”

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Legg–Calvé–Perthes disease overview

Rodríguez-Olivas

Hernández-Zamora

Maldonado

2022

Orphanet J Rare Dis

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“…Our study did not find these variants, CBS T833C rs5742905, neither in controls nor in patients. Azarpira et al showed that the MTHFR C677T polymorphism was not associated with the risk of LCPD in Iranian children [32]. When we analyzed the results for the MTHFR C677T rs1801133 polymorphism, they did not present a significant association with the risk of susceptibility to LCPD.…”

Section: Discussionmentioning

confidence: 64%

Association of MTHFR rs1801133 and homocysteine with Legg–Calvé–Perthes disease in Mexican patients

Buendía-Pazarán

Hernández-Zamora

Rodríguez-Olivas

et al. 2022

Orphanet J Rare Dis

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Background 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. Methods 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. 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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“…Our study did not nd these variants, CBS T833C rs5742905, neither in controls nor in patients. Azarpira et al showed that the MTHFR C677T polymorphism was not associated with the risk of LCPD in Iranian children [27]. When we analyzed the results for the MTHFR C677T rs1801133 polymorphism, it did not present a signi cant association with the risk of susceptibility to LCPD.…”

Section: Discussionmentioning

confidence: 66%

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

Pazarán¹,

Zamora

Rodríguez-Olivas³

et al. 2021

Preprint

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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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Association of eNOS 27-bp VNTR, 894G>T and 786T>C polymorphisms with susceptibility to Legg-Calve-Perthes Disease in Iranian children

Cited by 14 publications

References 25 publications

Legg–Calvé–Perthes disease overview

Legg–Calvé–Perthes disease overview

Association of MTHFR rs1801133 and homocysteine with Legg–Calvé–Perthes disease in Mexican patients

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

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