Predicting the Development of Great Obstetric Syndromes Based on Multilocus Genetic Analysis: Results of a Retrospective Comparative Cohort Study

2021 ◽  
Vol 76 (3) ◽  
pp. 244-253
Author(s):  
Elena V. Kudryavtseva ◽  
Vladislav V. Kovalev ◽  
Igor I. Baranov ◽  
Igor V. Ugarov
Keyword(s):  
Cohort Study ◽  
Pregnancy Complications ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Mthfr C677t ◽  
Main Group ◽  
Control Group ◽  
Mtrr A66g ◽  
Comparative Cohort Study ◽  
Polymorphic Variants

Background. Great obstetric syndromes are pathological conditions, related to the level of maternal, perinatal and infant morbidity and mortality. There is a genetic component in the development of pregnancy complications, as evidenced by numerous clinical observations and research results. Purpose to study the frequency characteristics of the occurrence of polymorphic variants of various genes and their combinations in patients who underwent pregnancy complicated by great obstetric syndromes in comparison with women whose pregnancy proceeded without complications and successfully ended with the birth of a live full-term baby. Methods. A retrospective comparative cohort study was conducted. Molecular genetic research was carried out in 391 women: 279 women who underwent one of the verified clinical forms related to great obstetric syndromes (main group), 112 women were included in the control group. 37 polymorphisms in 33 genes were studied (FGB, F2, F5, F7, F13, GPIa, GPIIIa, GPVI, PROC, PAI1, PLAT, MTHFR, MTHFD, MTRR, MTR, SLC19A1, CBS, NOS3, END1, ACE, ADD1, AGT , CYP11B2, GSTM, GSTT, GSTP1, MnSOD, GPX1, IL1, TNF-a, ESR1, ESR2, PGR). Results. The most significant polymorphisms and their combinations were identified. In the main group, the following combinations were more common: ACE Alu I/D ID + AGT А704G GG, AGT А704G GG + MTRR A66G AG, F7 G10976A GG + AGT А704G GG, F7 G10976A GG + F13 G103A GG, F7 G10976A GG + GPIa С807T CC, F7 G10976A GG + MTHFR C677T CC, CYP11B2 G-344A GA + IL1 G+3953A GA, PAI1-657 5G/4G 5G4G + IL1 G+3953A AA, PAI1-657 5G/4G 4G4G + IL1 G+3953A AA, in control group AGT A704G AA + MTRR A66G AG, AGT A704G AG + MTRR A66G AG (the differences are statistically significant). To simplify the practical application of the analysis for genetic polymorphisms, a computer program named GOS RISK was created to assess the risk of pregnancy complications. The sensitivity and specificity were 70.8% and 78.8%, the efficiency of the method 74.8%. Conclusion. Analysis of individual polymorphic variants of genes indicates their role in the discussed pathology. Creation of computer programs based on multilocus genome analysis increases the predictive value of molecular genetic studies.

scholarly journals Mathematical modeling of pregnancy loss with normal embryo karyotype in the first trimester

2020 ◽  
Author(s):  
N. N. Potapov ◽  
E. V. Kudryavtseva ◽  
V. V. Kovalev
Keyword(s):  
Pregnancy Loss ◽  
Molecular Genetic ◽  
Perinatal Outcomes ◽  
Health Indicators ◽  
Normal Karyotype ◽  
Mthfr C677t ◽  
First Trimester ◽  
Normal Embryo ◽  
Control Group ◽  
Mtrr A66g

Introduction. The risk of pregnancy loss in the first trimester is 12.5–18.7 %. The development of methods for predicting miscarriage is timely and relevant.Aim: to develop a predictive model for assessing the risk of miscarriage in the case of a normal embryo karyotype.Materials and Methods. The single-center cohort retrospective comparative study included 52 women with miscarriage at 6–12 weeks of gestation with a normal embrio karyotype (main group) and 126 women with physiologically progressing pregnancies and favorable perinatal outcomes (control group). All patients underwent general clinical and laboratory examination, analysis of genetic polymorphisms (FGBG -455A, F2 G20210A, F5 G1691A, F7 G10976A, F13 G103A, PAI1 -675 5G/4G, ITGA2 C708T, ITGB3 T176C, MTHFR C677T, MTHFR A1298C, MTR A2756G, MTRR A66G, NOS3 T-786C, NOS3 С894T), examination of the spouse.Results. The factors associated with the loss of pregnancy were a history of infertility, adenomyosis in the patient, a higher platelet count, and an abnormal spermogram of the partner. Significant differences were obtained between the studied groups in the frequency of occurrence of polymorphisms PAI-1 -675 5G/4G, MTHFR C677T, MTRR A66G, NOS3 G894T. On the basis of the revealed patterns, a mathematical model has been developed that makes it possible to determine the high risk of pregnancy loss in the first trimester (86.0 % efficiency).Conclusion. With a comprehensive assessment of clinical and anamnestic indicators, molecular genetic parameters, health indicators of the spouse, it is possible to determine risk groups for pregnancy loss with a normal karyotype of the embryo. Timely forecasting provides the basis for optimizing preconception care and timely prevention of miscarriage.

scholarly journals Association of rs3025058 polymorphism with the development of acute cerebrovascular event

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
S Nikulina ◽  
D Nikulin
Keyword(s):  
Risk Factors ◽  
Genetic Research ◽  
Statistical Processing ◽  
Main Group ◽  
Control Group ◽  
Cerebrovascular Event ◽  
Siberian Population ◽  
Cardiovascular Pathology ◽  
Daily Monitoring ◽  
Arterial Blood

Abstract Purpose To study SNP rs3025058 association (5a/6a) with development of Acute Cerebrovascular Event in the patients with cardiovascular pathology and risk factors of its development who are representatives of the east Siberian population. Material and methods 260 patients with Acute Cerebrovascular Event participated in a research (age [57.0; 51.0–62.0]) and 272 patients of control group (age [55.0; 51.0–62.0].). Among the patients who transferred Acute Cerebrovascular Event, 157 men and 103 women. The control group included 170 men and 102 women. Inspection of the main group included: collecting complaints, anamnesis, clinical examination, computer tomography of a brain, electrocardiography, echo, ultrasonic of arteries, daily monitoring of arterial blood pressure and cardiac rhythm, analysis of a coagulant system of blood. Patients of the main group had the following cardiovascular pathology and risk factors: arterial hypertension, supraventricular tachycardia, dislipidemiya, atherosclerosis brachiocephalic of arteries, disturbances of a system of a hemostasis. The control group is examined within the international HAPIEE project. The molecular and genetic research was conducted by PCR method in real time. Statistical processing of material was carried out with use of set of the Statistica for Windows 7.0, Excel and SPSS 22 application programs. Results In all analyzed groups and subgroups of patients statistically significant connection between a genotype of 5a/5a and an allele of 5a and in subgroup of women with Acute Cerebrovascular Event, subgroups of patients with AG and hypercoagulation of significant associations of polymorphism rs3025058 (5a/6a) with Acute Cerebrovascular Eventis not revealed. Conclusion A genotype 5a/5a and an allele 5a SNP rs3025058 (5a/6a) increase risk of development of an Acute Cerebrovascular Event in persons of the east Siberian population, including with such risk factors as atherosclerosis the brachiocephalic of arteries and a dislipidemiya. FUNDunding Acknowledgement Type of funding sources: None.

scholarly journals Experience of using the molecular genetic studies to assess the risk of suicide

2021 ◽  
Vol 18 (4) ◽  
pp. 483-490
Author(s):  
S. V. Davidouski ◽  
Zh. A. Ibragimova ◽  
A. S. Babenka ◽  
M. M. Skuhareuskaya ◽  
S. A. Kastsiuk ◽  
...  
Keyword(s):  
Suicidal Behavior ◽  
Control Method ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Control Group ◽  
Allelic Discrimination ◽  
Significant Difference ◽  
Self Harm ◽  
Bdnf Rs6265 ◽  
Suicide Group

In the recent decades, there has been widespread the opinion that genetic markers of the suicidal behavior (suicide, suicidal attempts, suicidal thoughts) can be used to predict the suicidal behavior.The purpose of the study was to determine the possibility of using the method of molecular genetic research to assess the risk of suicide in men of 18‒27 years.The study used the case-control method. The control group included 100 men of 18‒27 years who never had mental disorders. The suicide group included the persons who committed highly traumatic methods of self-harm and were motivated to commit suicide (30 persons). DNA isolation was performed using a NucleoSpin Blood kit (Macherey‒Nagel, Germany) according to the manufacturer’s protocol. Each DNA sample was analyzed for polymorphism by allelic discrimination using the real-time polymerase chain reaction (PCR).The frequencies of occurrence of genotypes and alleles of the following genes were analyzed: HTR1A, rs6295 (G/C); BDNF, rs6265 (G/A); COMT, rs4680 (G/A); SKA2, rs7208505 (C/T); SLC6A4 (5HTT), rs25531 (T/C); 5HTR2A, rs6313 (G/A); TPH2, rs4570625 (G/T); TPH1, rs1800532 (G/T).A statistically significant difference was found for the frequency of occurrence of genotypes and alleles of the rs25531 polymorphism of the SLC6A4 (5HTT) gene. The chance of being in the suicide group with a heterozygous genotype (T/C) carriage was 2.346 times higher.The significance of the rs25531 polymorphism of the SLC6A4 (5HTT) gene for the formation of the suicidal behavior was confirmed.

THE NEW GENETIC ASPECTS OF ATRIAL FIBRILLATION IN PERSONS OF THE RUSSIAN POPULATION

2020 ◽  
pp. 27-33
Author(s):  
Aksyutina N.V. ◽  
Shulman V.A. ◽  
Aldanova E.E. ◽  
Nikulina S.Yu. ◽  
Mordovskii V.S. ◽  
...  
Keyword(s):  
Heart Failure ◽  
Atrial Fibrillation ◽  
Chronic Heart Failure ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Heart Rhythm ◽  
Control Group ◽  
Atrial Remodeling ◽  
Cardiovascular Pathology ◽  
Heart Rhythm Disorders

Atrial fibrillation (AF) is one of the most common and dangerous heart rhythm disorders. Lone AF is due to a genetic predisposition. Foreign studies have proven the association of rs2200733 polymorphism of chromosome 4q25 with AF. No such studies have been conducted in the Russian Federation. Purpose of the study: to determine the association of the rs2200733 polymorphism of chromosome 4q25 with the development of AF, and to exclude the possible connection of the studied polymorphic marker with concomitant cardiovascular pathology. A total of 247 patients with AF were examined (113 from lone AF, 134 from secondary). Control group - 182 healthy people. Behavior: ECG, EchoCG, Holter ECG monitoring, blood test for thyroid hormones, VEM, CAG, molecular genetic research. In the group of patients with AF, the TT genotype was detected in 12.95%, which is statistically significant more often than in the control group (4.94%), p<0.05. In the presence of a genotype with a rare T allele, the risk of developing AF increases by 1.5 times. The TT genotype was statistically significant more often in the subgroup of patients with isolated AF (17.70%) in comparison with the control group (4.94%), p<0.05. The risk of developing isolated AF in the presence of a genotype with a rare allele T is 1.8 times increased. Chronic heart failure, no statistically significant differences were found (p>0.05). In patients with the TT genotype, the mean LA size was 3.738 ± 0.494 cm, it was statistically significantly smaller than in patients with the CC genotype, which corresponded to 3.925 ± 0.629 cm, p<0.05; and than in individuals with a heterozygous CT genotype, its value in this subgroup is 4.018 ± 0.639 cm, p<0.05. Conclusions: Homozygous genotype for the rare TT allele and the T allele of the rs2200733 polymorphism of chromosome 4q25 are predictors of lone AF. The rs2200733 polymorphism has no association with any cardiovascular pathology, such as hypertension, ischemic heart disease and chronic heart failure. The TT genotype and the T allele of the rs2200733 polymorphism do not affect left atrial remodeling in patients with AF.

scholarly journals Association of rs3025058 polymorphism with the development of stroke in patients with cardiovascular pathology

2020 ◽  
Vol 92 (12) ◽  
pp. 25-30
Author(s):  
S. Yu. Nikulina ◽  
V. A. Shulman ◽  
A. A. Chernova ◽  
S. V. Prokopenko ◽  
D. A. Nikulin ◽  
...  
Keyword(s):  
Risk Factors ◽  
Arterial Hypertension ◽  
Genetic Research ◽  
Main Group ◽  
Coagulation System ◽  
Control Group ◽  
Siberian Population ◽  
Single Nucleotide ◽  
Cardiovascular Pathology ◽  
Brachiocephalic Arteries

Aim.To study the association of single-nucleotide polymorphismrs3025058(5а/6а) with the development of stroke in patients of the East Siberian population with cardiovascular pathology and risk factors for its development. Materials and methods.The study involved 260 patients with stroke (age [57.0; 51.062.0]) and 272 patients of the control group (age [55.0; 51.062.0]). Among the patients who underwent stroke, 157 men and 103 women. The control group included 170 men and 102 women. The examination of the main group included: collection of complaints, anamnesis, clinical examination, computed tomography of the brain, electrocardiography, echocardioscopy, ultrasound duplex scanning of the extracranial brachiocephalic arteries, 24-hour monitoring of blood pressure and heart rate, analysis of the blood coagulation system. The patients of the main group had the following cardiovascular pathology and risk factors: arterial hypertension, paroxysmal supraventricular tachycardias, dyslipidemia, atherosclerosis of extracranial brachiocephalic arteries, disorders of the hemostasis system. The control group was examined within the framework of the international project HAPIEE. Molecular genetic research was carried out by real-time PCR. Statistical processing of the material was carried out using the Statistica for Windows 7.0, Excel and SPSS 22 application software. Results.The study established statistically significant associations between the 5a/5a genotype and the 5a allele and stroke in the general group of patients, as well as in the subgroup of men, subgroups of patients with extracranial brachiocephalic arteries atherosclerosis and dyslipidemia. In the subgroup of patients with cardiac arrhythmias, statistically significant results were obtained only for allele 5a, and in the subgroup of women with stroke, subgroups of patients with arterial hypertension and hypercoagulation, no significant associations ofrs3025058(5a/6a) polymorphism with stroke were found. Conclusion.Genotype 5a/5a and allele 5a of the single-nucleotide polymorphismrs3025058(5а/6а) increase the risk of stroke in individuals from the East Siberian population, including those in the presence of such risk factors as extracranial brachiocephalic arteries atherosclerosis and dyslipidemia.

scholarly journals Clinical manifestation features of chronic heart failure with comorbid obesity in consideration of cytochrome P450 system CYP2D6*4 gene polymorphism

2020 ◽  
Vol 86 (1) ◽  
pp. 9-16
Author(s):  
I.C. Gasanov ◽  
I.S. Ryduk ◽  
O.O. Medentseva ◽  
T.V. Lozyk
Keyword(s):  
Quality Of Life ◽  
Heart Failure ◽  
Cytochrome P450 ◽  
Chronic Heart Failure ◽  
Clinical Manifestation ◽  
Genetic Research ◽  
Main Group ◽  
Control Group ◽  
Cytochrome P450 System

In order to assess the characteristics of the clinical manifestation of CHF with obesity, taking into account the polymorphism of the CYP2D6*4 gene of the cytochrome P450 system in terms of patient’s quality of life a prospective randomized controlled trial was conducted, 127 people (93 men and 34 women) aged 32-87 (61) years with CHF of II—III stages, 1^1 functional class according to the classification of the New York Heart Association (NYHA) have been examined. The main group consisted of 73 patients with obesity of 1 degree and higher, the comparison group consisted of 54 patients without obesity, the control group consisted of 21 people without cardiovascular disorders. Research methods included estimation of clinical symptom score scale, 6-minute walk test, quality of life (with the Minnesota questionnaire for patients with heart failure), assessment of subjective symptoms and course of the disease, anthropometric data, determination of objective signs of the disease; instrumental methods (Doppler echocardiography, basic laboratory examination, etc.), as well as genetic research (G1846A variants of the CYP2D6 gene real-time polymerase chain reaction), statistical non-parametric methods (with 0.05 p-value thresold). It is shown, that in the clinical aspect, patients of the main group have been characterized by a tendency to more expressive pathological manifestations of CHF, especially in carriers of the heterozygous GA variant of the CYP2D6*4 gene of the cytochrome P450 system. According to the Minnesota questionnaire, the clinical condition of patients and the quality of life in case of GG polymorphism variant was better than in GA carriers of the CYP2D6*4 genotype variant of the cytochrome P450 system. Keywords: chronic heart failure, quality of life, obesity, genetic polymorphism, treatment, prognosis.

scholarly journals Prevention of pregnancy complications and delivery at low placentation

2021 ◽  
Vol 25 (3 (99)) ◽  
pp. 83-88
Author(s):  
S. Pecheriaha ◽  
I. Marynchyna
Keyword(s):  
Pregnant Women ◽  
Pregnancy Complications ◽  
Uterine Cavity ◽  
Main Group ◽  
Late Gestation ◽  
Lower Percentage ◽  
Control Group ◽  
Early Gestation ◽  
Placental Dysfunction ◽  
Pregnancy And Delivery

Objective is to evaluate the effectiveness of the developed method of preventing pregnancy complications with low placentation from early gestation.Material and methods. We have examined 119 pregnant women with low placentation. This diagnosis was made at 6-7 weeks of gestation on the basis of echographic research. The main group consisted of 64 pregnant women with low chorionic location who underwent prevention from pregnancy complications in early gestation by the complex of medicines developed by us and a control group -55 women with low placentation who had not undergone complications prophylaxis from early gestational periods. The prophylactic complex included Luteina, ginkgo biloba extract, folio and biolectra. To assess the effectiveness of the therapy in the study groups, we analyzed the course of pregnancy in early and late gestation, as well as complications of pregnancy and delivery.Results. The frequency of pregnancy pathologies in the main group, where the prevention of pregnancy complications from early gestation with low placentation, was significantly lower than in the control group. According to the study, the risk of abortion with bleeding and without bleeding in the first and second trimesters significantly decreased in the main group of pregnant women (p<0.05). In the third trimester of gestation in the group where the prevention of pregnancy complications was significantly reduced, the incidence of preterm birth, premature detachment of the low-lying placenta, fetoplacental dysfunction, fetal developmental delay syndrome and fetal distress during pregnancy (p<0.05). Also, in the main group there was a lower percentage of premature births and births that ended by cesarean section.Conclusions. 1. The place of attachment of the placenta in the uterine cavity is closely related to its function, the development of placental dysfunction, pregnancy and delivery. 2. Studies have shown the effectiveness of our proposed comprehensive drug prevention of complications of pregnancy with low placentation, which in turn has led to improved pregnancy and delivery and has become an effective means of preventing placental dysfunction.

Features of gene expression of Toll-like receptors in the placenta and fetal membranes during full-term pregnancy, complicated by premature rupture of membrane

2021 ◽  
Vol 19 (2) ◽  
pp. 55-60
Author(s):  
M. A. KAGANOVA ◽  
Keyword(s):  
Mrna Expression ◽  
Molecular Genetic ◽  
Main Group ◽  
Full Term ◽  
Fetal Membranes ◽  
Control Group ◽  
Term Pregnancy ◽  
Premature Rupture ◽  
Tlr2 Expression ◽  
Reverse Transcription Pcr

The purpose — to assess the level of mRNA expression of TLR2, TLR4, TLR7 genes by the placenta and fetal membranes during full-term physiological pregnancy complicated by premature rupture of the membranes (tPROM). Material and methods. The placental and fetal membranes’ samples were collected during cesarean section to assess the level of mRNA expression of TLR2, TLR4, TLR7 genes in 35 women with full-term pregnancy in City Clinical Hospital No. 1 named after N.I. Pirogov (Samara). The main group consisted of 20 pregnant women with tPROM, 15 women were included in the control group (without tPROM or the onset of labor). The level of mRNA expression of the TLR2, TLR4, TLR7 genes was determined by the method of reverse transcription PCR in real time (RT-PCR) in the laboratory of molecular genetic methods of DNA-Technology LLC, using a Proba NK set of reagents. Results. The level of TLR2 expression in the fetal membranes in the main group was 1,87 times higher than in the control group, of TLR4 — 0,69 times lower and of TLR7 — 1,57 times higher. In the placenta, the expression of mRNA TLR2, TLR4, TLR7 genes did not differ. When compared by loci, a significant increase in TLR7 expression in the placenta was noted compared to the fetal membranes. Conclusion. The expression of mRNA TLR2 and TLR7 was increased with PROM in the fetal membranes, while the placenta remained intact and apparently did not participate in the pathogenesis of PROM, but has a higher level of placental TLR7 in both groups, which is apparently associated with more intense antigenic viral stimulation of placental tissues during pregnancy compared with the membranes.

scholarly journals Alleles Frequency and Polymorphic Genes Genotypes Associated with Alcoholism in Kazakh Population

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Svetlana Kaliullaevna Sakhanova ◽  
Gulnara Salavatovna Svyatova ◽  
Valery Petrovich Pavlenko ◽  
Akmaral Adietovna Ramazanova ◽  
Stanislav Vladimirovich Zaynullin ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Genetic Diagnostics ◽  
Control Group ◽  
Asian Populations ◽  
Kazakh Population ◽  
Increased Risk ◽  
Polymorphic Variants ◽  
Molecular Genetic Diagnostics ◽  
Aldh2 Gene ◽  
Adh1b Gene

Background: There is a category of people with a congenial predisposition to alcohol abuse among the total population. The identification of such persons by molecular genetic diagnostics and the implementation of appropriate preventive measures can significantly reduce the incidence of alcoholism. Objectives: This research aimed to study the genetic foundations of alcohol dependence development in Kazakhs based on the analysis of population frequencies of polymorphic variants of predisposition to alcoholism genes. Materials and Methods: The material for the research was the DNA recovered from the peripheral blood of the recruited control group population, which was represented by 1,800 conditionally healthy individuals of Kazakh nationality. Isolated DNA samples were genotyped by PCR. Conclusions: Kazakhs take an intermediate position between the previously studied European and Asian populations by allele frequencies of nine polymorphic variants of ADH1B (rs2066701, rs1789891), ADH1C (rs1693425, rs698), HTR2C (rs6318), ALDH2 (rs671), CADM2 (rs9841829), KLB (rs11940694), DRD2 (rs1076560) genes. Possible markers of an increased risk of alcoholism development in Kazakhs are G alleles of polymorphic loci rs2066701 of the ADH1B gene and rs671 of the ALDH2 gene, and the protective effect is possible in the presence of A alleles rs2066701 of the ADH1B gene and rs671 of the ALDH2 gene.

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

2020 ◽  
Vol 27 (2) ◽  
pp. 19-23
Author(s):  
Mikhail A. Panin ◽  
Nikolai V. Zagorodnii ◽  
Larisa M. Samokhodskaya ◽  
Andrei V. Boiko
Keyword(s):  
Femoral Head ◽  
Avascular Necrosis ◽  
Lupus Erythematosus ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Main Group ◽  
Cytotoxic Agents ◽  
Control Group ◽  
Mthfr Polymorphisms ◽  
C677t Mthfr

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, 2 = 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, 2 = 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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