Abstract
Introduction Non-traumatic avascular necrosis of the femoral head (ANFH) is a poly-etiologic and socially significant disease in the age of 20 to 50 years and is associated with disability. Research on the identification of necrosis causes/predictors is a relevant issue. Purpose To study the contribution of polymorphisms in the genes of coagulation factors F7 and F13 in the aetiology of non-traumatic avascular necrosis of the femoral head. Methods Polymorphisms of the genes of coagulation factors F7 and F13 were studied; comparative analysis of the frequency of important allelic variants of F7genes (Arg353Gln) and F13 (Val134Leu) in patients with a verified diagnosis of aseptic necrosis (study group) and in healthy patients (control group) was performed. The study group included 41 patients (all males) with aseptic necrosis of the femoral head of unknown etiology. Results The frequency of gene alleles in the F7 Arg353Gln in the study group were: GG in 30 out of 41 patients (73.2 %), GA in 11 out of 41 patients (26.8 %), and none of 41 patients had a polymorphic variant AA. The frequency of alleles of this type of gene in the control group was as follows: GG in 7 out of 320 subjects (2.2 %), GA in 66 out of 320 patients (20.6 %), AA in 247 out of 320 (77.2 %). Significant differences were identified in the frequencies of homozygous genotypes, AA (χ2 = 100.215, p < 0.001) and GG (χ2 = 205.770, p < 0.001) in the study and control groups respectively. As for the heterozygous GA genotype, the differences were not significant (χ2 = 0.834, p = 0.362). The GG genotype of the gene Val134Leu F13 WAS 2.8 times more frequent in patients of the study group, differences were statistically significant (26.8 % against 9.7 %, χ2 = 10.388; p = 0.002). The presence of the TT genotype of the gene Val134Leu F13 was almost five times more frequent (χ2 = 18.956, p < 0.001) in healthy individuals (control group). Differences in the frequency of allele T in homo/ and heterozygous combinations (TT and GT) in the study and control groups was also significant (72.7 % vs 90.1 %, respectively, χ2 = 4.946, p = 0.027). Discussion Polymorphisms of coagulation factors genes F7 and F13 have a significant effect on the genesis of non-traumatic avascular necrosis of the femoral head. Risk factor of ANFH development is homozygous GG genotype in the gene Arg353Gln F7. Low probability of the disease is due to a protective role of AA genotype of the gene Arg353Gln F7 and TT genotype of the gene Val134Leu F13.
Highlights
Non-traumatic avascular necrosis of the femoral head (ANFH) is a poly-etiologic and socially significant disease in the age of 20 to 50 years and is associated with disability
Allele G in the genotype was noted in 73.2 % of patients with ANFH and in 22.8 % of individuals from the control group; the differences are statistically significant (Table 1)
We found significant differences in the frequencies of homozygous genotypes, AA (χ2 = 100.215, p < 0.001) and GG (χ2 = 205.770, p < 0.001) in the study and control groups (Fig. 1)
Summary
Non-traumatic avascular necrosis of the femoral head (ANFH) is a poly-etiologic and socially significant disease in the age of 20 to 50 years and is associated with disability. Purpose To study the contribution of polymorphisms in the genes of coagulation factors F7 and F13 in the aetiology of non-traumatic avascular necrosis of the femoral head. Non-traumatic aseptic necrosis of the femoral head (ANFH) is a disease characteristic for males aged 20 to 50. Disability of young people due to this disease is a socially significant issue [1, 2]. It is known that necrosis of the femoral head can be observed in the absence of the abovementioned factors – the so-called "idiopathic ANFH". A lot of patients with ANFH feature a combination of unfavorable external risk factors with hereditary ones such as hypercoagulation, hemoglobinopathies, angiogenesis disorders, oxidative stress [6]
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