The value of the MTHFR polymorphisms in pathogenesis of nontraumatic necrosis of femoral head

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Introduction. Among the etiological factors of non-traumatic avascular necrosis of the femoral head are the following: the prolonged use of corticosteroids, alcohol abuse, systemic lupus erythematosus, sickle cell anemia, the Legg – Calve – Perthes disease, ionizing radiation, cytotoxic agents, etc. At the same time necrosis of the femoral head might occur in the absence of the above factors (idiopathic necrosis). The reasons for idiopathic avascular necrosis could be a mechanical obstacle to the flow of blood, thrombotic occlusion of vessels, extravascular compression.

The purpose of this study is to examine the role of C677T gene mutation of the MTHFR gene in the development of non-traumatic avascular necrosis of the femoral head.

Materials and methods. During this study there was a comparative analysis of the frequency of the C677T gene allelic variants conducted in 41 patients with a verified diagnosis of non-traumatic avascular necrosis (main group) and 320 healthy individuals (control group). The survey program included the study of polymorphisms of MTHFR C677T gene by PCR.

Results. Differences in the frequency of occurrence of C allele of C677T gene MTHFR in the heterozygous state in case of non-traumatic avascular necrosis and in its absence were not statistically significant (51.2% against 37.2% respectively, χ2 = 3.014, p = 0.083). The genotype TT (T in the homozygous state) of the C677T MTHFR gene was detected in 19.5% of the main group patients. A similar index in the control group was two times lower and amounted to 9.0 percent, the differences between groups statistically significant, χ2 = 4.314, p = 0.038.

Conclusion. The study showed the importance of having the T C677T MTHFR gene in the pathogenesis of non-traumatic avascular necrosis of the femoral head. The data obtained and the analysis of the current literature suggests that this polymorphism is one of genetic predictors of non-traumatic avascular necrosis of the femoral head and other cardiovascular diseases as well.

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About the authors

Mikhail A. Panin

Peoples Friendship University of Russia


Russian Federation, Moscow

MD, associate Professor in the department of traumatology and orthopedics

Nikolai V. Zagorodnii

Peoples Friendship University of Russia


Russian Federation, Moscow

MD, PhD Professor, corresponding member of RAMS, head of traumatology and orthopedics department

Larisa M. Samokhodskaya

Lomonosov Moscow State University


Russian Federation, Moscow

MD, associate Professor, head of Department of laboratory diagnostics

Andrei V. Boiko

Peoples Friendship University of Russia

Author for correspondence.

Russian Federation, Moscow

resident of traumatology and orthopedics department


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Supplementary files

Supplementary Files Action
Fig. 1. Frequency of the C677T gene allelic variants in patients with non-traumatic avascular necrosis in the main and control groups

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Fig. 2. Family history of patients with non-traumatic avascular necrosis in the presence and absence of a homozygous variant of TT gene C677T MTHFR

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Copyright (c) 2020 Panin M.A., Zagorodnii N.V., Samokhodskaya L.M., Boiko A.V.

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