scholarly journals Association of ADRB2 gene polymorphism with dilated cardiomyopathy

2021 ◽  
Vol 12 (1) ◽  
pp. 28-33
Author(s):  
Svetlana Y. Nikulina ◽  
Оksana O. Kuznetsova ◽  
Anna A. Chernova ◽  
Gennadiy V. Matyushin ◽  
Anna A. Gurazheva ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Molecular Genetic ◽  
Rare Allele ◽  
Control Group ◽  
Genetic Studies ◽  
Homozygous Genotype ◽  
Number Of Patients ◽  
History Of ◽  
The Common ◽  
Adrb2 Gene

Aim. To study the association of the rs1042713 polymorphism of the ADRB2 gene with cardiomyopathies of various origins. Material and methods. The study included patients with dilated cardiomyopathy (DCMP) and myocardial dilatation of ischemic genesis (DM IG).The total number of people surveyed is 221. The average age of the subjects was 55.309.69 years. Patients were divided into 2 groups: one of them patients with a diagnosis of dilated cardiomyopathy idiopathic (predictors of expansion of the heart cavities are excluded) and the other-patients with dilated myocardium of ischemic origin (a history of IHD). The number of patients in the first group was 111, including 99 (89.2%) men and 12 (10.8%) women. The average age of patients in this group is 51.739.74 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 (91.5%) men and 10 (8.5%) women. The average age of the respondents is 58.688.38 years. The control group consists of individuals who did not have any manifestations of cardiovascular diseases. Their number is 221 people (average age 53.64.8 years). Laboratory and instrumental studies, coronary angiography, and molecular genetic studies of the rs1042713 polymorphism of the ADRB2 gene were performed for all participants in the study. Those patients who were excluded predictors of the occurrence of dilation of the heart cavities were assigned to the first group. The second group included patients with a history of CHD. Results. In the group with DCMP, 10.8% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype 48.6%, and the rare homozygous GG genotype 40.5%. In the group of patients with DM IG, 16.4% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype 51.8%, and the rare homozygous GG genotype 31.8%. In the control group, 11.8% of patients were identified as carriers of the homozygous genotype for the common allele, 47.5% carriers of the heterozygous genotype, and 40.7% carriers of the homozygous genotype for the rare allele. No statistically significant results were obtained in the group of patients with DCMP and DM IG compared to the control group of the rs1042713 polymorphism of the ADRB2 gene. Conclusion. No association of ADRB2 gene rs1042713 polymorphism with DCMI and DM IG was revealed.

scholarly journals Association of ADRB2 gene polymorphism with dilated cardiomyopathy

2021 ◽  
Vol 10 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
SY Nikulina ◽  
OO Kuznecova
Keyword(s):  
Rare Allele ◽  
Public Institution ◽  
Control Group ◽  
Genetic Studies ◽  
Funding Sources ◽  
Idiopathic Cardiomyopathy ◽  
Homozygous Genotype ◽  
Number Of Patients ◽  
Adrb2 Gene ◽  
Medical University

Abstract Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University Aim. To evaluate the Association of rs1042713 polymorphism of the ADRB2 gene with dilated idiopathic cardiomyopathy (DCMP) and myocardial dilation of ischemic origin (DMI). Subjects and methods. The study included patients with ICMP and DMI in the number of 221 people. The average age of the subjects was in the range of 55.30 ± 9.69 years. We divided the patients into 2 groups: the first – patients diagnosed with idiopathic dilatation cardiomyopathy and the second-patients with myocardial dilatation of ichemic origin. The number of patients in the first group was 111, including 99 men (89.2%) and 12 women (10.8%). The average age of patients in this group is 51.73 ± 9.74 years, in men 51.00 ± 8.96 years, in women 57.75 ± 3.71 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 men (91.5%) and 10 women (8.5%). The average age of respondents is 58.68 ± 8.38 years, for men 58.29 ± 8.46 years, for women 62.90 ± 6.29 years. The control group included patients who had no manifestations of cardiovascular diseases. Their number is 121 people (average age 53.6 ± 4.8 years). The patients underwent laboratory and instrumental studies, as well as molecular and genetic studies of the 16 AG polymorphism of the ADRB2 gene (rs1042713). All patients underwent coronary angiography. Based on the anamnesis data and instrumental studies, those patients who could be said to have no risk factors for the development of dilatation of the heart cavities were identified in the first group. And those patients who were reliably diagnosed with CHD were in the second group, that is, dilatation of the heart cavities is due to a previous myocardial infarction, existing angina pectoris. Results. In the group with DCMP 10.8% of patients were carriers of the common homozygous 16AA genotype, the heterozygous 16AG genotype-48.6%, and the rare homozygous 16GG genotype-40.5%. In the control group 11.8% of patients were identified as carriers of a homozygous genotype by a common allele, and 47.5% were carriers heterozygous genotype, and homozygous genotype for a rare allele – 40.7%. The analysis non revealed a statistically significant decrease in the frequency of carrying the homozygous 16GG genotype in patients with DCMP compared to the control group of the rs1042713 polymorphism of the ADRB2 gene. In the group with DM IG, there was no association with the rs1042713 polymorphism of the ADRB2 gene. Conclusion. A statistically significant association of rs1042713 of the ADRB2 gene with DCMP was not found. The association of DMI c rs1042713 could not be confirmed.

scholarly journals Association of CTLA4 gene polymorphism with dilated cardiomyopathy

2021 ◽  
Vol 10 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
SY Nikulina ◽  
OO Kuznecova
Keyword(s):  
Rare Allele ◽  
Public Institution ◽  
Control Group ◽  
Genetic Studies ◽  
Funding Sources ◽  
Idiopathic Cardiomyopathy ◽  
Homozygous Genotype ◽  
Number Of Patients ◽  
Ctla4 Gene ◽  
Medical University

Abstract Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University Aim. To evaluate the Association of rs231775 polymorphism of the CTLA4  gene with dilated idiopathic cardiomyopathy (DCMP) and myocardial dilation of ischemic origin (DMI). Subjects and methods. The study included patients with ICMP and DMI in the number of 221 people. The average age of the subjects was in the range of 55.30 ± 9.69 years. We divided the patients into 2 groups: the first – patients diagnosed with idiopathic dilatation cardiomyopathy and the second-patients with myocardial dilatation of ichemic origin. The number of patients in the first group was 111, including 99 men (89.2%) and 12 women (10.8%). The average age of patients in this group is 51.73 ± 9.74 years, in men 51.00 ± 8.96 years, in women 57.75 ± 3.71 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 men (91.5%) and 10 women (8.5%). The average age of respondents is 58.68 ± 8.38 years, for men 58.29 ± 8.46 years, for women 62.90 ± 6.29 years. The control group included patients who had no manifestations of cardiovascular diseases. Their number is 121 people (average age 53.6 ± 4.8 years). The patients underwent laboratory and instrumental studies, as well as molecular and genetic studies of the 49A/G polymorphism of the CTLA4  gene (rs231775). All patients underwent coronary angiography. Based on the anamnesis data and instrumental studies, those patients who could be said to have no risk factors for the development of dilatation of the heart cavities were identified in the first group. And those patients who were reliably diagnosed with CHD were in the second group, that is, dilatation of the heart cavities is due to a previous myocardial infarction, existing angina pectoris. Results. In the group with DCMP 34.2% of patients were carriers of the common homozygous 49AA genotype, the heterozygous 49AG genotype-48.6%, and the rare homozygous 49GG genotype-17.1%. In the control group 33.5% of patients were identified as carriers of a homozygous genotype by a common allele, and 49.3% were carriers heterozygous genotype, and homozygous genotype for a rare allele – 17.2%. The analysis revealed a statistically non significant increase in the frequency of carrying the homozygous AA genotype in patients with DCMP compared to the control group of the rs231775 polymorphism of the CTLA4  gene. In the group with DMI, there was no association with the rs231775 polymorphism of the CTLA4  gene. Conclusion. A statistically significant association of rs231775 of the CTLA4 gene with DCMP was not  found. The association of DMI c rs231775 could not be confirmed.

scholarly journals Association of SCN5A gene polymorphism with dilated cardiomyopathy

2021 ◽  
Vol 17 (4) ◽  
pp. 564-569
Author(s):  
S. Yu. Nikulina ◽  
O. O. Kuznetsova ◽  
A. A. Chernova ◽  
G. V. Matyushin ◽  
A. A. Gurazheva ◽  
...  
Keyword(s):  
Polymorphic Locus ◽  
Rare Allele ◽  
Control Group ◽  
Genetic Studies ◽  
Homozygous Genotype ◽  
The Common ◽  
Group 2 ◽  
Artery Disease ◽  
Scn5a Gene ◽  
Group 1

Subjects and methods. The study included patients with IDC (group 1; n=111, 89.2% men, average age 51.7±9.7 years) and ICM (group 2; n=110, 91.5% men, average age 58.7±8.4 years). All patients (IDC and ICM) underwent coronary angiography. Based on the anamnesis data and instrumental studies, those patients who could be said to have no risk factors for the development of dilatation of the heart cavities were identified in the group 1. And those patients who were reliably diagnosed with coronary artery disease were in the group 2, that is, dilatation of the heart cavities is due to a previous myocardial infarction, existing angina pectoris. The control group (n=121, average age 53.6±4.8 years) included patients who had no manifestations of cardiovascular diseases. The patients underwent laboratory and instrumental studies, as well as molecular and genetic studies of the A/G polymorphism of the SCN5A gene (rs1805124).Results. In the group with IDC 51.4% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype-40.5%, and the rare homozygous GG genotype-8.1%. In the control group 63.3% of patients were identified as carriers of a homozygous genotype by a common allele, and 33.5% were carriers heterozygous genotype, and homozygous genotype for a rare allele – 3.2%. The analysis revealed a statistically significant decrease in the frequency of carrying the homozygous AA genotype in patients with IDC compared to the control group of the rs1805124 polymorphism of the SCN5A gene. In the group of patients with ICM, the А allele (69.5% vs. 80.1%, p=0.003) and the AA genotype (50.9% vs. 63.3%, p=0.030) were significantly less common than in the control group. The rare homozygous GG genotype was statically more common in patients with ICM compared to the control group (11.8% vs. 3.2%, p=0.004). Also, the G allele in the group of patients with ICM was detected statically significantly more often than in the control group (30.5% vs. 19.9%, p= 0.003).Conclusion. The polymorphic locus rs1805124 of the SCN5A gene is associated with both IDC and ICM. Homozygous genotype AA and allele A are conditionally protective factors for the development of these conditions in men.

scholarly journals Association of SCN5A gene polymorphism with dilated cardiomyopathy

2021 ◽  
Vol 10 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
SY Nikulina ◽  
OO Kuznecova
Keyword(s):  
Rare Allele ◽  
Public Institution ◽  
Control Group ◽  
Genetic Studies ◽  
Funding Sources ◽  
Idiopathic Cardiomyopathy ◽  
Homozygous Genotype ◽  
Number Of Patients ◽  
Medical University ◽  
Scn5a Gene

Abstract Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University Aim. To evaluate the Association of rs1805124 polymorphism of the SCN5A gene with dilated idiopathic cardiomyopathy (DCMP) and myocardial dilation of ischemic origin (DMI). Subjects and methods. The study included patients with ICMP and MD IG in the number of 221 people. The average age of the subjects was in the range of 55.30 ± 9.69 years. We divided the patients into 2 groups: the first – patients diagnosed with idiopathic dilatation cardiomyopathy and the second-patients with myocardial dilatation of ichemic origin. The number of patients in the first group was 111, including 99 men (89.2%) and 12 women (10.8%). The average age of patients in this group is 51.73 ± 9.74 years, in men 51.00 ± 8.96 years, in women 57.75 ± 3.71 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 men (91.5%) and 10 women (8.5%). The average age of respondents is 58.68 ± 8.38 years, for men 58.29 ± 8.46 years, for women 62.90 ± 6.29 years. The control group included patients who had no manifestations of cardiovascular diseases. Their number is 121 people (average age 53.6 ± 4.8 years). The patients underwent laboratory and instrumental studies, as well as molecular and genetic studies of the A/G polymorphism of the SCN5A gene (rs 1805124). All patients underwent coronary angiography. Based on the anamnesis data and instrumental studies, those patients who could be said to have no risk factors for the development of dilatation of the heart cavities were identified in the first group. And those patients who were reliably diagnosed with CHD were in the second group, that is, dilatation of the heart cavities is due to a previous myocardial infarction, existing angina pectoris. Results. In the group with DCMP 51.4% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype-40.5%, and the rare homozygous GG genotype-8.1%. In the control group 63.3% of patients were identified as carriers of a homozygous genotype by a common allele, and 33.5% were carriers heterozygous genotype, and homozygous genotype for a rare allele – 3.2%. The analysis revealed a statistically significant decrease in the frequency of carrying the homozygous AA genotype in patients with DCMP compared to the control group of the rs1805124 polymorphism of the SCN5A gene. In the group with DM IG, there was no association with the rs1805124 polymorphism of the SCN5A gene. Conclusion. A statistically significant Association of rs1805124 of the SCN5A gene with DCMP was found. The Association of DM IG c rs1805124 could not be confirmed.

scholarly journals Association of ADRB1 gene polymorphism with dilated cardiomyopathy

2021 ◽  
Vol 10 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
SY Nikulina ◽  
OO Kuznecova
Keyword(s):  
Statistical Significance ◽  
Rare Allele ◽  
Public Institution ◽  
Control Group ◽  
Significance Level ◽  
Funding Sources ◽  
Idiopathic Cardiomyopathy ◽  
Homozygous Genotype ◽  
Number Of Patients ◽  
Medical University

Abstract Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University Aim. To evaluate the Association of rs1801252 polymorphism of the ADRB1 gene with dilated idiopathic cardiomyopathy (DCMP) and myocardial dilation of ischemic origin (DMI). Subjects and methods. The study included patients with ICMP and MD IG in the number of 221 people. The average age of the subjects was in the range of 55.30 ± 9.69 years. We divided the patients into 2 groups: the first – patients diagnosed with idiopathic dilatation cardiomyopathy and the second-patients with myocardial dilatation of ichemic origin. The number of patients in the first group was 111, including 99 men (89.2%) and 12 women (10.8%). The average age of patients in this group is 51.73 ± 9.74 years, in men 51.00 ± 8.96 years, in women 57.75 ± 3.71 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 men (91.5%) and 10 women (8.5%). The average age of respondents is 58.68 ± 8.38 years, for men 58.29 ± 8.46 years, for women 62.90 ± 6.29 years. The control group included patients who had no manifestations of cardiovascular diseases. Their number is 121 people (average age 53.6 ± 4.8 years). The patients underwent laboratory and instrumental studies, as well as molecular and genetic studies of the A145G polymorphism of the ADRB1 gene (rs1801252 ). All patients underwent coronary angiography. Based on the anamnesis data and instrumental studies, those patients who could be said to have no risk factors for the development of dilatation of the heart cavities were identified in the first group. And those patients who were reliably diagnosed with CHD were in the second group, that is, dilatation of the heart cavities is due to a previous myocardial infarction, existing angina pectoris. Results. In the group with DCMP 70.3% of patients were carriers of the common homozygous A145A genotype, the heterozygous A145G genotype-27.0%, and the rare homozygous G145G genotype-2.7%. In the control group 71.9% of patients were identified as carriers of a homozygous genotype by a common allele, and 25.3% were carriers heterozygous genotype, and homozygous genotype for a rare allele – 2.7%. Statistical analysis showed no achievement of statistical significance level across any of the genotypes. In the group with DM IG, there was no association with the rs1801252 polymorphism of the ADRB1 gene. Conclusion. A statistically significant association of rs1801252 of the ADRB1 gene with DCMP was not found. The association of DM IG c rs1801252 could not be confirmed.

scholarly journals β-1-adrenoreceptor gene polymorphism role in the development of dilated cardiomyopathy

2020 ◽  
Vol 4 (7) ◽  
pp. 394-398
Author(s):  
O.O. Kuznetsova ◽  
◽  
S.Yu. Nikulina ◽  
A.A. Chernova ◽  
V.N. Maximov ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Dilated Cardiomyopathy ◽  
Ischemic Cardiomyopathy ◽  
Polymorphic Locus ◽  
Receptor Gene ◽  
Idiopathic Dilated Cardiomyopathy ◽  
Control Group ◽  
Additional Risk Factor ◽  
Number Of Patients ◽  
The Common

Aim: to identify patterns of development of idiopathic dilated cardiomyopathy (IDC) and ischemic cardiomyopathy (ICM) by studying the rs 1801252 (Ser49Gly) polymorphic variant of the ADRB1 gene.Patients and Methods: a cohort of 221 patients (mean age — 55.30±9.69 years) was examined. All respondents underwent a standard set of laboratory and instrumental examinations, including coronary angiography. The first group included 111 patients with IDC, 99 of them (89.2%) were men, who were excluded from probable factors of dilated cardiomyopathy. The second group included 110 patients with IDC, including 100 (91.5%) men who had reliable signs of CHD. The control group included 221 people (mean age — 53.6±4.8 years) without signs of cardiovascular diseases. A molecular genetic study of the rs 1801252 (Ser49Gly) polymorphism of the ADRB1 gene was performed in all patients and in the control group. Results: among patients with IDC of both gender, 70.3% were carriers of the common homozygous A145A genotype, 27.0% of the heterozygous A145G genotype, and 2.7% of the rare homozygous G145G genotype. In the control group, there was also a predominant number of patients who carried the homozygous genotype for the common A145A allele — 71.9%. Carriers of the heterozygous A145G genotype were 25.3%, and the homozygous G145G genotype for a rare allele — 2.7%. The analysis of the genotypes frequency distribution of the polymorphic locus rs 1801252 (Ser49Gly) of the ADRB1 gene in patients with IDC and in the control group showed no differences. In the group of patients with ICM, the frequency of the common homozygous A145A genotype was 68.2%, there were fewer patients with the heterozygous A145G genotype — 29.1%, and the rare homozygous G145G genotype was detected in 2.7% of cases. There was no association with the ICM 1801252 (Ser49Gly) polymorphism of the ADRB1 gene in the group of patients with ICM, since the results of comparison with the control group data showed no statistically significant differences. At the same time, there were differences in the frequency of alleles of the polymorphic locus rs1801252 (Ser49Gly) of the ADRB1 gene: in male patients with IDC and ICM, the 145A allele was statistically significantly more common (p=0.0001) than in the control group.Conclusion: the data obtained suggest that the carrier of the 145A allele of the ADRB1 gene may serve as an additional risk factor for the development of dilated cardiomyopathy.KEYWORDS: dilated cardiomyopathy, ischemic cardiomyopathy, genetic polymorphism, β-1-adrenergic receptor gene, heart failure, genetic predisposition.FOR CITATION: Kuznetsova O.O., Nikulina S.Yu., Chernova A.A. et al. β-1-adrenoreceptor gene polymorphism role in the development of dilated cardiomyopathy. Russian Medical Inquiry. 2020;4(7):394–398. DOI: 10.32364/2587-6821-2020-4-7-394-398.

scholarly journals Molecular genetic verification of isolated mineralocorticoid deficiency due to aldosterone synthase deficiency

2009 ◽  
Vol 55 (1) ◽  
pp. 28-30
Author(s):  
N Yu Kalinchenko ◽  
N A Zubkova ◽  
A N Tyulpakov
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Adrenal Hyperplasia ◽  
Genetic Studies ◽  
Aldosterone Synthase ◽  
Salt Wasting ◽  
History Of ◽  
17 Hydroxyprogesterone ◽  
Aldosterone Synthase Deficiency

Isolated mineralocorticoid deficiency is a rare hereditary autosomal recessive disorder that is characterized by salt wasting and that has the severest manifestations in infants. This paper is the first in the Russian literature to describe cases of isolated aldosterone deficiency. In both cases, the patients were monitored and treated for misdiagnosed congenital adrenal hyperplasia; however, the permanently low level of 17-hydroxyprogesterone could put in doubt the diagnosis and suspect isolated mineralocorticoid deficiency, by keeping in mind a history of salt wasting. By using the presented cases as an example, the authors give an algorithm for the examination and differential diagnosis of this condition and other diseases that have the similar clinical picture. Aldosterone synthase deficiency in patients was verified by molecular genetic studies - there were mutations in the CYP112 gene.

Primary Pure Angiosarcoma of the Testis: A Case Report

2014 ◽  
Vol 1 ◽  
Author(s):  
Samay Jain ◽  
Richard Cantley ◽  
Justus Philip
Keyword(s):  
Germ Cell ◽  
Molecular Genetic ◽  
Malignant Neoplasm ◽  
Cell Precursor ◽  
Cell Component ◽  
Genetic Studies ◽  
Spindle Cell Neoplasm ◽  
Primary Angiosarcoma ◽  
History Of ◽  
Vascular Channels

Angiosarcoma is a rare and aggressive, malignant neoplasm of endothelial-cell origin.   A primary angiosarcoma originating in the testicle is extremely rare, with only five previous cases reported in the current literature. We report a case of primary, pure angiosarcoma of the testis in a 63-year-old patient with no history of previous chemotherapy or radiation therapy. By histology, the tumor was a high-grade spindle cell neoplasm, arranged in sheets and poorly-formed vascular channels. The tumor cells were positive for vascular markers (CD31, CD34) by immunohistochemical staining. No evidence of a germ cell component was seen by morphology, immunohistochemistry, or molecular genetic studies. This finding is unique in that it is one of only three reported cases of primary angiosarcomas of the testicle without a germ cell precursor or component.

scholarly journals Risk of Cancer Onset in Sub-Saharan Africans Affected with Chronic Gastrointestinal Parasitic Diseases

2005 ◽  
Vol 18 (3) ◽  
pp. 503-511 ◽  
Author(s):  
M. Waku ◽  
L. Napolitano ◽  
E. Clementini ◽  
T. Staniscia ◽  
C. Spagnolli ◽  
...  
Keyword(s):  
Intestinal Tuberculosis ◽  
Clinical History ◽  
Parasitic Infections ◽  
Control Group ◽  
Gi Tract ◽  
Chronic Group ◽  
Acute Group ◽  
Number Of Patients ◽  
History Of ◽  
Risk Of Cancer

Gastrointestinal Schistosomiasis and Amebiasis are uncommon in the western world, while such infections are frequent in the African community. In addition to the problems associated with the clinical symptoms of these parasitic infections, it is important to stress the increase in cancer of the Gastro-Intestinal (GI) tract. In this study we evaluate the prevalence of cancer in patients affected by chronic inflammatory diseases caused by the above named parasites. In three years, from January 2000 to December 2003, we observed a total of 1199 subject. Of these, 950 presented with complaints of diarrhoea, vomiting, abdominal pain, melena, hematemesis, rectal discharges and alteration of bowel habits. A total of 818 patients were evaluated in Uganda (Mulago and Arua hospitals) and 381 at Luisa Guidotti Hospital in Zimbabwe. An exhaustive clinical history was collected for each patient and then physical and laboratory examinations were performed. The clinical files of all patients previously admitted to the respective hospitals were obtained and the information taken from these files was then integrated with our clinical findings. Subjects who were found free of gastro-intestinal disease after examinations and did not have a clinical history of infective GI disease but presented with other pathologies, were regarded as control group. The control group was composed of 249 subjects. The subjects who were positive on examination underwent further investigations. The number of patients affected by schistosomiasis and amoebiasis were 221 and 224 respectivelly. The number of patients who suffered from aspecific enterocolitis was 454, intestinal tuberculosis was present in 21 patients and we found 30 patients with esophageal candidiasis. Patients who had the above mentioned GI diseases were then divided into 3 groups. First group was composed of patients who had a clinical history of infective GI diseases and were re-admitted for similar symptoms, and on examination were positive for the presence of the same infective GI diseases. Such patients were placed in the “Chronic group”. The second group was formed of patients who had previously undergone treatment for infective GI diseases but on re-admission were found free of infective GI disease, and this group was described as the “Cured group”. They had symptoms associated with other pathologies. A third group, which we described as the “Acute group” was composed of patients who did not have any previous case of GI infection and were admitted for the first time. Such patients were found positive on examination for infective GI diseases. In the 950 patients, we found a total of 45 tumors. The tumors were prevalent (42 tumours) in the chronic group. In 34 patients the tumor was in the colo-rectal region, in 3 patients in the stomach, in 4 patients in the oesophagus and 1 patient had cancer in the small bowel. Our results show a strong association between the chronic infection of the GI tract and the likelihood to develop tumours. However, it is not clear which biological mechanisms are implicated in such transformations. They may depend on the chronic inflammation of the GI mucous which permits the entrance of carcinogenic materials or on the effects of mutagenic products produced by the parasites or both.

scholarly journals The Role Of rs1799883 Polymorphism Of The FABP2 Gene In The Pathogenesis Of Nosological Syntropy Of Gallstone Disease And Metabolic Syndrome

2021 ◽  
Vol 03 (06) ◽  
pp. 46-51
Author(s):  
Raximov Anvar Pulatboevich ◽  
◽  
Ismailov O’ktam Safaevich ◽  
Batirov Davronbek Yusupovich ◽  
◽  
...  
Keyword(s):  
Gallstone Disease ◽  
Molecular Genetic ◽  
Case Control ◽  
Control Model ◽  
Molecular Medicine ◽  
Genetic Studies ◽  
Homozygous Genotype ◽  
Risk Of Disease ◽  
Fabp2 Gene

Objective: to study the role of the rs1799883 polymorphism of the FABP2 gene in the pathogenesis of gallstone disease in combination with MS. Material and methods. Molecular genetic studies were carried out in the Department of Molecular Medicine and Cell Technologies of the RSNPMC Hematology. The analysis of the associations of the rs1799883 polymorphisms of the FABP2 gene was carried out using a case-control model. The main group consisted of 118 patients with cholelithiasis in combination with MS living in the Khorezm region. Results: As a result of our research, we identified a significant association of the homozygous genotype for the Thr allele with the development of gallstone disease in combination with MS. The indicator of the ratio of the chances of developing gallstone disease in combination with MS in carriers of this genotype was OR = 2.9 at 95% CI: 1.122- 7.424. The relative risk of disease was RR = 2.5 with 95% CI: 1.11-5.76. Conclusion: Our results allow us to conclude that the homozygous Thr/Thr genotype plays an important role in the formation of gallstone disease and obesity in people of Uzbek nationality.

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