Distribution Of Genotype Frequencies Research Articles

The Significant Contribution of Interleukin-16 Genotypes, Smoking, Alcohol Drinking, and Helicobacter Pylori Infection to Gastric Cancer.

Elevated serum interleukin-16 (IL-16) levels have been reported in gastric cancer (GC) tissues; however, the role of IL-16 genotypes in GC susceptibility remains largely unexplored. This study aimed to investigate the contribution of IL-16 genotypes to GC susceptibility and to assess their interactions with smoking, alcohol drinking, and Helicobacter pylori (H. pylori) infection. Polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) methodology was employed to determine IL-16 rs4778889, rs11556218, and rs4072111 genotypic characteristics in 161 patients with GC and 483 controls. Significant differences were observed in the distribution of genotypic (p=0.0009) and allelic (p=0.0002) frequencies of IL-16 rs11556218 among cases and controls. Specifically, the frequencies of TG and GG genotypes of IL-16 rs11556218 were 37.3% and 6.8% among patients with GC, respectively, which were higher than those among the controls (26.7% and 2.7%). In contrast, no significant differences were found concerning IL-16 rs4778889 or rs4072111. Notably, individuals with IL-16 rs11556218 TT genotypes exhibited significant protective effects against GC when exposed to risk factors, such as smoking, alcohol drinking, and H. pylori infection. IL-16 rs11556218 T allele was associated with reduced susceptibility to GC. Furthermore, carriers of the TT genotype showed protection against GC risk factors, including smoking, alcohol drinking, and H. pylori infection. These findings provide valuable insights into the potential role of IL-16 genotypes in GC development and their interactions with lifestyle and infectious factors.

Features of the frequency distribution of alleles and genotypes of the IL5 gene polymorphism rs2069812 in various phenotypes of bronchial asthma of professional genesis

Despite the fact that occupational bronchial asthma has long been considered as a separate, independent disease, in recent years, more and more attention has been paid to its heterogeneity. Phenotyping of occupational asthma was initially based on identifying combinations of clinical characteristics of the disease, but now an increasing amount of data is emerging making it possible to understand the cause of clinical differences at the molecular genetic level. Thus, molecular genotyping opens up new opportunities in the search for a more targeted and personalized approach to the treatment of occupational bronchial asthma, as well as in the development of an individual strategy for its prevention. The purpose of the study is to determine genetic markers of the risk of developing occupational asthma under conditions of exposure to sensitizing substances by assessing the IL5 rs2069812 polymorphism. Materials and methods. The study was conducted on the basis of the Department of Occu pational Diseases and Clinical Pharmacology named after honored scientist of the Russian Federation professor V. V. Kosarev, FSBEI HE Samara State Medical University of the Ministry of Health of Russia, and the Department of Occupational Pathology, Regional Center of Occupational Pathology, SBHI SR Samara Medical and Sanitary Unit No. 5 of the Kirov District. The study was carried out on 170 patients with various phenotypes of occupational bronchial asth ma and 50 participants in the control group: group 1 (42 patients) — phenotype «occupational asthma, allergic form», group 2 (36 patients) — phenotype «occupational asthma, non-allergic form», group 3 (58 patients) — phenotype «occupational asthma — occupational chronic obstructive pulmonary disease», group 4 (34 patients) — phenotype «occupational asthma — metabolic syndrome», group 5 — control group (healthy), 50 participants. As part of the study of genetic predisposition to occupational bronchial asthma, IL5 rs2069812 polymorphism was determined. DNA samples were isolated from peripheral venous blood lymphocytes using phenol-chloroform extraction. Genotyping was performed by real-time polymerase chain reaction using primers and probes designed using PrimerQuest (Integrated DNA Technologies, Inc.). Results. Thus, for the first time, the genetic markers of the risk of occupational asthma under exposure to sensitizing substances, i.e. IL5 rs2069812 polymorphism, have been identified, which makes it possible to recommend the determination of this genetic marker during indepth periodic medical examinations of individuals working under conditions of exposure to sensitizing and irritating substances in the presence of clinical, functional, and immunological changes. Conclusion. The identified marker profiles of genotypes of occupational bronchial asthma can optimize the approach to diagnosis, treatment, and prevention of this pathology, as well as expand the range of criteria for predicting the course of the disease. When IL-5 polymorphism is detected during molecular genetic studies, patients need to be linked to care and undergo repeated pulmonary function tests once every 6 months and in-depth periodic medical exami nations in a specialized occupational pathology center with the mandatory participation of a pulmonologist, allergist/immunologist, and occupational pathologist, as well as with conducting extended functional and immunological studies once every 2 years.

Association Of IL-6, And IL-10 Gene Snps In Childhood Febrile Seizure

Background: Febrile seizure are typically defined as convulsions=that-occur in children, between/6 months to 5years, who have a fever of more,,than”38 degrees Celsius, that is not associated with an intracranial’ reason such as an infection, ,head .injury, or epilepsy. It is also known as the immature brain's response to fever, which is age-dependent. As a child’s brain develops, there is an increase in neuronal excitability which puts the child at the risk of febrile seizures. Aims: the aim of the present study is to find out the association of Inflammatory cytokines (IL-6, IL-10) SNP with the onset of childhood febrile seizure. Method- Blood samples from patients with childhood febrile seizure will be collected in a sterile condition, and the association of SNP for both IL-6 (-597) G/A, and IL-10 (-819) C/T with disease susceptibility will be studied by using allele specific PCR. Results: The case-control study of 40 patients with Febrile seizure and 40 control without Febrile seizure has revealed that a substantial difference in the frequency distribution of IL-6 genotypes between the patient group and the control group where (p =0.041). Besides, there was no discernible variation in the frequency distribution of IL-10 genotypes and alleles. (p > 0.05); therefore, none of genotypes or alleles can be regarded as risk factor or protective factor. Conclusion: The present study has concluded that IL-6(-597) G/A, (rs:1800797) single nucleotide polymorphism (SNP) was associated with Febrile seizure susceptibility, and GG, genotype considered as, risk factor, while genotype GA act as protective factor. However, it refers that the IL-10-819C/T (rs:1800871), genes may not represent the Febrile-seizure-associated genetic risk factor.

Spontaneous miscarriage driven by maternal genetic mutation at position of PAI-1-844G/A: shed light on a race-specific genetic polymorphism

ObjectiveAssociation between a genetic polymorphism and disease, either positively or negatively, within a population may not necessarily predict association in other race-ethnic populations. The aim of this study was to genotype well recognized thrombophilia associated polymorphisms as common risk factors for miscarriage and investigate their benefit to use as risk factors in southwest region of Iran females (Khuzestan) in the Arabs ethnic minority group with spontaneous miscarriage. We developed a Reverse Dot Blot Assay for the genotyping of four polymorphisms.ResultsThere were significant differences in the genotype distribution and allelic frequencies of the MTHFR 1298 A > C, MTHFR 677 C > T, Factor V Leiden 1691 G > A, PAI-1-844G > A polymorphisms between the case and control groups. The MTHFR 1298 A > C, MTHFR 677 C > T and Factor V Leiden 1691 G > A polymorphisms were significantly associated with spontaneous miscarriage risk. Unlike some other race-ethnic populations, PAI-1-844G > A polymorphism was associated with risk of developing unplanned miscarriage in Iranian Arabs ethnic minority group females.

Взаимосвязь полиморфизма C825T гена GNB3 с морфологическими факторами нарушения соматического здоровья у студентов северного вуза

Genetic polymorphisms, in combination with unfavourable external factors, cause dysfunction of the key life support systems in the body. Studying the C825T (rs5443) polymorphism of the GNB3 gene as a genetic marker for overweight and visceral obesity will help to identify the risks of somatic disorders in young university students. The purpose of this study was to investigate the relationship between the C825T polymorphism of the GNB3 gene and morphological parameters in students of a northern university. Materials and мethods. A total of 96 students of Surgut State Pedagogical University aged 17–20 years were examined. Alleles of the rs5443 polymorphism of the GNB3 gene were identified by means of real-time polymerase chain reaction using KardioGenetika kit (Russia). Body composition was assessed using Tanita BC-601 scales. Muscle, bone and fat mass as well as visceral fat and water content were determined. Correlations between the C825T alleles of the GNB3 gene and anthropometric parameters as well as body composition were established. Results. The mutant T allele of the rs5443 polymorphism of the GNB3 gene was found in 30 % of the total sample, which reflects the general population trend. The analysis of genotype frequency distribution for the C825T polymorphism of the GNB3 gene revealed a statistically significant prevalence of the homozygous C/C genotype in female and heterozygous C/T genotype in male subjects (Pearson’s χ2 test: χ2 = 7.75; p = 0.02). Overweight students were statistically significantly more likely to have a mutant T allele compared to students with normal BMI (χ2 = 5.62; p = 0.018). A moderate direct association (at p < 0.05) between certain anthropometric parameters and body composition and the C825T polymorphism of the GNB3 gene in the examined students was found.

Interleukin-8 Rs4073 Genotypes as Prognostic Predictors for Childhood Acute Lymphocytic Leukemia.

Interleukin 8 (IL-8) is highly expressed in refractory acute lymphocytic leukemia (ALL) cells. This study aimed to investigate the contribution of IL-8 polymorphisms to the risk of childhood ALL. The genotypes of IL-8 rs4073, rs2227306, rs2227543, and rs1126647 were determined in 266 childhood ALL cases and 266 controls using the PCR-RFLP method. Additionally, we assessed whether the interactions of these genotypes with age and sex contributed to childhood ALL risk. The distributions of genotypic and allelic frequencies of IL-8 rs4073, rs2227306, rs2227543, and rs1126647 were not significantly different between childhood ALL cases and controls (all p>0.05). However, carriers of the variant AA genotype at IL-8 rs4073 had a significantly higher risk of childhood ALL among those aged ≤3.5 years and among girls (OR=2.39 and 3.32, 95%CI=1.21-4.73 and 1.51-7.30, p=0.0182 and 0.0042, respectively). In the stratification analysis, IL-8 rs4073 AT and AA genotypes were associated with higher childhood ALL risk classification and shorter survival time (OR=2.21 and 4.13, 95%CI=1.29-3.78 and 1.87-9.10, p=0.0054 and 0.0002, respectively). There was no positive association for rs2227306, rs2227543, or rs1126647 (all p>0.05). The A allele of IL-8 rs4073 can serve as a diagnostic predictor for childhood ALL, but only in girls and patients younger than or equal to 3.5 years old. More importantly, it can serve as a prognostic marker for high-risk classification and shorter survival time. Further validation studies can help extend the use of this prognostic predictor in clinical practice.

Genetic association between ADRB2 rs1042713 and elite athletic performances in the Korean population

Athletic performance is a multifactorial trait influenced by environmental and genetic factors. Previous studies have identified various genes associated with athletic performance, including the β2-adrenergic receptor (ADRB2) gene, which has been consistently shown to be linked with elite athletic performance in diverse populations. The ADRB2 gene is known to play a key role in various biological systems, including cardiovascular, pulmonary, metabolic, and musculoskeletal functions. It acts by interacting with adrenaline. In particular, the ADRB2 rs1042713 (A > G) polymorphism has been associated with cardiovascular and respiratory functions. In addition, the association between the ADRB2 rs1042713 polymorphism and athletic performance has been reported. Thus, we conducted a case-control study to analyze the genetic association with ADRB2 rs1042713 polymorphism with 150 elite athletes, 116 college athletes, and 145 controls (control I) in the Korean population. The genotypes were determined by PCR-RFLP. As a result, we found significant differences in the distributions of genotype (p = 0.005) and allele (p = 0.002) frequencies between elite athletes and the control Ⅱ (control I + college athletes). We also found that the ADRB2 rs1042713 G/G genotype [odds ratio (OR) 2.42, 95% CI 1.384–4.235, p = 0.002] and the G allele (OR 1.58, 95% CI 1.184–2.098, p = 0.002) were significantly associated with elite athletic performance. Additionally, we observed a gender-specific association in female elite athletic performance (p = 0.0002 and p = 0.0002, respectively). In conclusion, our results suggest that the ADRB2 rs1042713 polymorphism may be associated with elite athletic performance in the Korean population. To validate these findings, additional studies with larger samples, including elite athletes from various sports types and diverse ethnic origins are needed.

The effect of genetic variation and mRNA expression of interleukin-17A gene on susceptibility to asthma.

Analyzing the genetic variation and mRNA expression of interleukin-17A (IL-17A) gene and its impact on asthma susceptibility was the purpose of this study. 120 asthma patients were selected as the asthma group, and another 120 healthy individuals who underwent physical examination were selected as the health group; Compare the cytokine levels and mRNA expression of IL-17A between two groups, as well as the clinical indicator total immunoglobulin E (TIgE) levels; The genotype and allele distribution frequency of IL-17A Single-nucleotide polymorphism locus rs2275913 and rs8193036 were compared between the two groups; Compare the serum IL-17A and TIgE levels of different genotypes at rs2275913 and rs8193036 loci; and logistic regression was used to evaluate the impact of IL-17A on asthma susceptibility. The serum levels of IL-17A, TIgE, and IL-17AmRNA expression in the asthma group were higher than those in the healthy group (P<0.05). There were three genotypes of AA, AG and GG at rs2275913 locus, and the frequency distribution between the two groups was significant (P<0.05), and the frequency of A Allele frequency in asthma group was higher than that in healthy group (P<0.05). There are three genotypes of CC, CT, and TT at the rs8193036 locus, and there was no significant difference in the frequency distribution between the two groups (P>0.05). There is no difference in the frequency distribution of alleles C and T between the two groups (P>0.05). The levels of IL-17A and TIgE in the rs2275913AA genotype were higher than those in the AG and GG genotypes (P<0.05); There was no difference in IL-17A and TIgE levels among different genotypes of rs8193036 (P>0.05). The rs2275913 polymorphism was associated with asthma susceptibility and is an independent risk parameter for asthma susceptibility. Upregulation of serum IL-17A and TIgE, as well as overexpression of IL-17A mRNA, were closely related to asthma susceptibility in asthma patients. The rs2275913 polymorphism had a significant role in increasing the risk of asthma, and variant allele A may be a susceptibility factor for increasing asthma risk.

ACE and AT2R1 gene polymorphism in patients with chronic vascular encephalopathy: association with neuroimaging changes and cognitive functioning

Background. Given the synergistic effect of the ACE and AT2R1 genes and their impact on the maintenance of homeostatic processes, the aim of our research was to identify the associations of the studied polymorphic variants of the ACE and AT2R1 genes with neuroimaging changes, data from arterial duplex ultrasound and cognitive functioning in patients with chronic vascular encephalopathy (CVE). Materials and methods. A retrospective analysis of 145 medical records of patients with CVE was conducted, of which 18 patients underwent a molecular genetic study. The control group consisted of 12 people representative in terms of age and gender. Neuroimaging was performed using multislice computed tomography or magnetic resonance imaging. The state of cerebral blood flow was studied using transcranial duplex ultrasound of intracranial and extracranial vessels. The cognitive functioning was tested using the Montreal Cognitive Assessment. Results. When analyzing the associations of polymorphic I/D variants of the ACE gene and A1166C of the AT2R1 gene with neuroimaging changes and parameters of cerebral hemodynamics in CVE among carriers of I and D alleles of the ACE gene, a probable relationship was found between their frequency distribution and the presence/absence of gliosis phenomena (62.69 % of D allele carriers were diagnosed with gliosis, p &lt; 0.05); a probable relationship between the frequency distribution of the D/D genotype of the ACE gene and the presence of angiospasm (in 72.73 % of patients), insufficiency of blood flow in the carotid system (72.73 % of cases) and vertebrobasilar insufficiency (in 36.36 % of people). When evaluating the dependence of cognitive functions based on the Montreal Cognitive Assessment score in patients with CVE on the polymorphic I/D variants of the ACE gene and A1166C of the AT2R1 gene, probable changes were revealed in the frequency distribution of genotypes and alleles of the polymorphic I/D variant of the ACE gene (χ2 = 11.33; p = 0.023), while all carriers of the D/D genotype have impaired cognitive functioning (moderate in 36.36 % and mild in 63.64 % of cases), which also corresponds to the frequency of the D allele distribution in this cohort of patients (29.63 % of people have a moderate cognitive impairment and 70.37 % — a mild cognitive impairment, p = 0.013). Conclusions. The study results indicate that the ACE gene may be involved in the development of neuroimaging changes and cognitive decline in CVE.

Correlation of TGF-β signaling pathway gene polymorphisms with unexplained recurrent spontaneous abortion.

The association of key genes in the transforming growth factor-β (TGF-β) signaling pathway and their gene polymorphisms with unexplained recurrent spontaneous abortion (URSA) is unclear. To investigate the association of gene polymorphisms related to the TGF-β signaling pathway in URSA women. The study population consisted of 80 women with URSA and 90 normal control women, of which 10 women with URSA and 10 normal control women underwent high-throughput sequencing to select loci, and the remaining 70 women with URSA and 80 normal control women underwent flight mass spectrometry experiments to verify gene loci polymorphism. A total of 7 polymorphic loci in interleukin-6 (IL-6), TGF-β1, TNF-α, SMAD1, and TNFRSF4 genes were screened by high-throughput sequencing combined with a review of databases. An SNP flight mass spectrometer (Mass ARRAY detection system) was applied to detect the polymorphisms and their frequencies in 70 women with URSA and 80 normal control women at the 7 gene loci. Among the 7 loci of IL-6, TGF-β1, TNF-α, SMAD1, and TNFRSF4 genes, 2 loci were found to have significantly different allele and genotype frequency distributions between the 70 URSA and 80 normal controls, one was the IL-6 gene -174G/C locus (rs1800795), the risk of disease was 2.636 and 3.231 times higher in individuals carrying the C allele and CC genotype than in those carrying the G allele and GG genotype, respectively; the other was the TGF-β1 gene -509T/C locus (rs1800469), and the risk of disease was 1.959 and 3.609 times higher in individuals carrying the T allele and TT genotype than in those carrying the C allele and CC genotype, respectively. The remaining 5 genetic loci have no statistically significant. IL-6 gene -174G/C locus (rs1800795) genotype CC and allele C may be the causative factor of URSA, TGF-β1 gene -509T/C locus (rs1800469) genotype TT and allele T may be the causative factor of URSA, and polymorphisms of the 2 loci may be associated with URSA.

SIRT5 rs12216101 T>G variant is associated with liver damage and mitochondrial dysfunction in patients with non-alcoholic fatty liver disease

Sirtuin 5, encoded by the SIRT5 gene, is a NAD+-dependent deacylase that modulates mitochondrial metabolic processes through post-translational modifications. In this study, we aimed to examine the impact of the SIRT5 rs12216101T>G non-coding single nucleotide polymorphism on disease severity in patients with non-alcoholic fatty liver disease (NAFLD). The rs12216101 variant was genotyped in 2,606 consecutive European patients with biopsy-proven NAFLD. Transcriptomic analysis, expression of mitochondrial complexes and oxidative stress levels were measured in liver samples from a subset of bariatric patients. Effects of SIRT5 pharmacological inhibition were evaluated in HepG2 cells exposed to excess free fatty acids. Mitochondrial energetics invitro were investigated by high-performance liquid chromatography. In the whole cohort, the frequency distribution of SIRT5 rs12216101 TT, TG and GG genotypes was 47.0%, 42.3% and 10.7%, respectively. At multivariate logistic regression analysis adjusted for sex, age >50 years, diabetes, and PNPLA3 rs738409 status, the SIRT5 rs12216101T>G variant was associated with the presence of non-alcoholic steatohepatitis (odds ratio 1.20, 95% CI 1.03-1.40) and F2-F4 fibrosis (odds ratio 1.18; 95% CI 1.00-1.37). Transcriptomic analysis showed that the SIRT5 rs12216101T>G variant was associated with upregulation of transcripts involved in mitochondrial metabolic pathways, including the oxidative phosphorylation system. In patients carrying the G allele, western blot analysis confirmed an upregulation of oxidative phosphorylation complexes III, IV, V and consistently higher levels of reactive oxygen species, reactive nitrogen species and malondialdehyde, and lower ATP levels. Administration of a pharmacological SIRT5 inhibitor preserved mitochondrial energetic homeostasis in HepG2 cells, as evidenced by restored ATP/ADP, NAD+/NADH, NADP+/NADPH ratios and glutathione levels. The SIRT5 rs12216101T>G variant, heightening SIRT5 activity, is associated with liver damage, mitochondrial dysfunction, and oxidative stress in patients with NAFLD. In this study we discovered that the SIRT5 rs12216101T>G variant is associated with higher disease severity in patients with non-alcoholic fatty liver disease (NAFLD). This risk variant leads to a SIRT5 gain-of-function, enhancing mitochondrial oxidative phosphorylation and thus leading to oxidative stress. SIRT5 may represent a novel disease modulator in NAFLD.

Analysis of Correlation Between Coronary Heart Disease and Genetic Polymorphism Detected by Gold Magnetic Nanoparticles Chromatography.

It aimed to explore the correlation of Glu504Lys locus mutation of aldehyde dehydrogenase-2 (ALDH2) with coronary heart disease (CHD) based on gold magnetic nanoparticles (GMNPs) chromatography and amplification refractory mutation system-PCR (ARMS-PCR). 120 CHD patients admitted to the cardiovascular Department of Wenling First People's Hospital affiliated to Wenzhou Medical University from December 2020 to December 2021 were selected as Case group and 80 non-CHD patients admitted during the same period were selected as Ctrl group. The venous blood and indexes of Total Cholesterol (TC), Triglyceride (TG), Low Density Lipoprotein Cholesterol (LDL-C), High Density Lipoprotein Cholesterol (HDL-C), and Fasting Blood Glucose (FBS) were collected. The ARMS-PCR GMNPs chromatography based on ARMS-PCR and immunochromatography assay was adopted to detect gene polymorphism of ALDH2. Correlation between ALDH2 gene polymorphism and risk factors of CHD was analyzed via logistic regression. In contrast to Ctrl group, the genotypes of GG, GA, and AA in Case group were evidently different (P < 0.05), and the frequency of A allelic gene was obviously increased (P < 0.05). Under the dominant model, frequency of GA + AA genotype in Case group was remarkably higher in contrast to Ctrl group (P < 0.05). Under the recessive model, there was no obvious difference in genotype frequency between two groups. In contrast to Ctrl group, TC, LDL-C, and FBS in Case group were notably increased (P < 0.05), while HDL-C was notably decreased (P < 0.05). The distribution frequency of abnormal LDL-C, HDL-C, and FBS in Case group was notably higher in contrast to Ctrl group (P < 0.05). LDL-C and FBS had no obvious effect on the genotypes and frequency distribution of alleles in CHD patients. However, the frequency distribution of genotypes of GA and AA and A allelic gene in patients with abnormal HDL-C was notably lower in contrast to those with normal HDL-C (P < 0.05). Logistic regression analysis showed that abnormal HDC-C with A allelic gene were independent risk factors for CHD (P = 0.001, OR = 1.934). The gene polymorphism of Glu504Lys locus of ALDH2 was closely related to the pathogenesis of CHD, A allelic gene may be a susceptibility gene for CHD, and patients with abnormal HDC-C and carried A allelic gene had relatively higher incidence of CHD.

Association between HLA-DRB1 gene polymorphisms and genetic susceptibility of early-onset severe preeclampsia

To explore the correlation between the single nucleotide polymorphisms (SNP) of rs3135388, rs114293611 and rs142804168 of HLA-DRB1 gene and early-onset severe preeclampsia (sPE). Blood samples were collected from 102 early-onset sPE mothers and their neonates (sPE group), as well as 120 normotensive mothers and their neonates (control group). Sanger sequencing was performed to compare the genotype distribution, allele frequencies, and differences in genotype distribution after maternal-infant compatibility between the two groups. Statistically significant differences in genotype distribution at rs114293611 of HLA-DRB1 gene were observed between sPE and control groups in both mothers and neonates (P<0.05). The frequency of the T allele at rs114293611 was higher in the sPE group of neonates than that in the control group (P<0.05), while no significant difference was found between the two groups of mothers (P>0.05). The maternal-infant genotype compatibility analysis showed significant differences in genotype distribution between sPE and control groups (P<0.05). There were no significant differences in genotype distribution and allele frequencies at rs3135388 and rs142804168 of HLA-DRB1 gene between the two groups of mothers and neonates (P>0.05). The SNP at rs114293611 of HLA-DRB1 gene may be associated with the development of early-onset sPE in mothers. Maternal-infant genotype compatibility abnormality at rs114293611 of HLA-DRB1 gene may be a predisposition factor for the development of sPE.

Study of the Association of Polymorphic Variants rs2295080 and rs1883965 of the &lt;i&gt;MTOR&lt;/i&gt; Gene with the Development of Pulmonary Sarcoidosis

The aim of the study was to study the association of polymorphic variants rs2295080 and rs1883965 of the MTOR gene with the risk of developing pulmonary sarcoidosis. The study included 253 people (122 patients diagnosed with morphologically verified sarcoidosis with lung involvement (average age – 41.00 ± 12.56 years) and 131 healthy people (control group) (average age – 44.00 ± 14.23). The distribution of alleles and genotypes of polymorphic markers rs2295080 and rs1883965 of the MTOR gene was analyzed in the study groups. There was a statistically significant increase in the level of mRNA expression of the MTOR gene in PBL of patients with pulmonary sarcoidosis compared with the control group (p = 0.007). A decrease in the number of transcripts of this gene was noted in patients receiving therapy compared with patients without therapy (p = = 0.025). There were no statistically significant differences in the distribution of allele and genotype frequencies for polymorphic markers rs2295080 and rs1883965 of the MTOR gene in the group of patients with pulmonary sarcoidosis and in the control group: (χ2 = 0.196, d.f. = 1, p = 0.658 and χ2 = 0.637, d.f. = 2, p = = 0.728) and (χ2 = 0.034, d.f. = 1, p = 0.855 and χ2 = 0.051, d.f. = 2, p = 0.975) respectively. Conclusion: аn increased level of expression of the MTOR gene in peripheral blood leukocytes of patients with pulmonary sarcoidosis may indicate the involvement of this gene in the pathogenesis of this disease. Polymorphic markers rs2295080 and rs1883965 of the MTOR gene are not associated with the risk of developing pulmonary sarcoidosis. Probably, an increase in the expression level of the MTOR gene in patients with pulmonary sarcoidosis is due to the development of inflammation.

Evaluation the -174G>C Genetic Polymorphism of Interleukin-6 in Iranian Patients with Chronic Lymphocytic Leukemia.

Interleukin-6 (IL-6) is involved in inflammation and has a significant role in chronic lymphocytic leukemia (CLL) progression. Accordingly, IL-6 level may increase in CLL-affected patients compared to healthy individuals. The -174G>C single nucleotide polymorphism (SNP) in IL-6 promoter region has been related to differences in IL-6 transcription. Therefore, we investigated the possible association of IL-6 polymorphism with CLL. We examined the -174G>C SNP in IL-6 gene and studied its possible relationship with CLL in affected patients and in healthy controls using Amplification Refractory Mutation System- polymerase chain reaction genotyping method. IL-6 plasma level was measured in both studied groups. According to the results, IL-6 mean plasma concentration was increased significantly in the CLL patients compared to the controls. However, 174G>C genotype of the IL-6 gene was not associated with CLL. Furthermore, there were no significant differences in the distribution of allele and genotype frequencies between the CLL-affected patients and the controls (P>0.05). Our study showed that -174G>C SNP in promotor of IL-6 gene could not be considered a risk factor for CLL. Larger prospective studies should be performed to confirm our results.

Association of the AspP298Asn polymorphism in the MC4R gene with fattening productivity of immunologically castrated and uncastrated gilts

The study was aimed at establishing the presence of MC4R (c.1426 A&gt;G) gene polymorphism among the population of immunologically castrated and native gilts (Large White × Landrace) × Maxgro. Asp298Asn polymorphism affects the economic rate of growth and fattening productivity of commercial lines of pigs. Since the polymorphism of the MC4R gene correlates with the concentration of androstenone, skatole, and indole, the possible use of polymorphism as a molecular DNA marker MC4R for genetic selection in order to reduce the level of boar odor in gilts meat and fat. This will establish which alleles and genotypes in general will be determined as desirable in the marker dilution of hybrid pigs. With this in mind, the purpose of the study was to determine the effect of the MC4R genotype on fattening performance indicators and correlation with boar odor in hybrid gilts based on population-genetic variability. Genomic DNA was isolated from the ear hair follicle of native gilts (n=42) and epithelial tissue from the ear of immunologically castrated ones (n=52). Genotyping was performed using polymorphism of the lengths of restrictive fragments (RFLP). Genetic-correlation parameters for native and immunologically castrated gilts were evaluated by ADG/AGE30 and ADG/AGE100. However, the polymorphism of the c.1426 A&gt;G gene did not significantly affect the ADG/AGE100 performance of hybrid gilts. The predominance of the frequency of allele A (0.55) is established above the frequency of the allele G (0.45). Analysis of the frequency distribution of genotypes showed the saturation of micropopulation with heterozygotes AG (0.51) with a small proportion of GG carriers (0.19). Immunologically castrated and uncastrated gilts with an MC4RA allele are characterized by a sufficiently high ADG/AGE100 and are probably characterized by a high level of boar-specific odor compared to gilts with lower ADG/AGE100 with an MC4RG allele. According to the data obtained, the desired genotype for an equilibrium of the concentration of boar odor without compromising physiological development, growth rate, and productivity formation is heterozygous offspring with the MC4RAG genotype.

Association between interleukin-12B gene polymorphisms and multiple sclerosis in turkish population

Elevated levels of IL-12p40 have been observed in the cerebrospinal fluid and serum of MS patients, and it has been suggested that genetic variants in the IL-12B gene may contribute to MS susceptibility and/or pathogenesis. In this study, we investigated the association between MS and IL-12B gene rs17860508 and rs3212227 polymorphisms in the Turkish population. We identified two polymorphic regions in the IL-12B gene using bioinformatics tools and genotyped 351 MS patients and 221 healthy controls for these variants. Our results showed a significant association between the IL-12B rs17860508 polymorphism and MS, but no significant relationship between rs17860508 genotype distribution and allele frequency and MS age onset or subtypes. Genotype distribution and allele frequency of IL-12B rs3212227 polymorphism did not show any significant association with MS directly. However, AC genotype of IL-12B rs3212227 polymorphism in early-onset multiple sclerosis (EOMS) was a risk factor according to age of onset. Additionally, we observed a higher risk for the relapsing-remitting multiple sclerosis (RRMS) subtype in females. This is the first study to investigate the association between IL-12B polymorphisms and MS in the Turkish population.

Polymorphism of the coding gene LGALS-3 rs2274273 as an endogenous factor of the predictive effectiveness of the plasma concentration of galectin-3 in relation to the risk of development of chf on the background of eh in women

Objective. The purpose of the study is to improve the early diagnosis of the development of left ventricular myocardial hypertrophy (LVH) and the formation of prerequisites for chronic heart failure (CHF) in women with essential hypertension, residents of the Podillya region of Ukraine by determining the plasma concentration of galectin-3 in carriers of different polymorphic variants of the LGALS-3 (rs2274273) gene. Material and methods. 180 women of postmenopausal age, average age of 57.34±0.45, residents of the Podillya region of Ukraine, who lived in this territory in the third generation, were examined. The control group consisted of 67 women, average age of 56.43±0.64 years, without signs of cardiovascular pathology and signs of left ventricular hypertrophy (LVH) for other reasons were detected. The main group included 113 women with essential hypertension, of which 62 had essential hypertension with LVH without heart failure (EH II), 51 had essential hypertension with chronic heart failure stage C according to the ESH/ESC 2023 classification. General clinical examination, enzyme immunoassay method for determining the level of galectin-3 in blood plasma, genotyping of the LGALS3 (rs2274273) gene using polymerase chain reaction, and ultrasound of the heart were performed. The statistical processing of the obtained results was carried out using the package of statistical programs SPSS, STATISTICA v. 10.0. Mathematical methods were used: multiple regression stepwise analysis of proportional risks with 95% CI confidence interval, Fisher's linear discriminant analysis with the creation of a mathematical prognostic model, and cluster analysis. Compliance of the frequency distribution of genotypes in the studied populations to the Hardy-Weinberg equilibrium was checked using the MedCalc Software Ltd. Odds ratio calculator. https://www.medcalc.org/calc/odds_ratio.php and calculated the odds ratio (OR) of developing left ventricular myocardial hypertrophy (LVH) and chronic heart failure (CHF).Results. In patients with EH and CHF, carrying the A allele of the LGALS-3 (rs2274273) gene was associated with a more severe degree of diastolic dysfunction and reduced LVEF compared with carriers of the GG genotype, and higher plasma levels of galectin-3 were also recorded, which were associated with a more significant deterioration structural and functional indicators of the myocardium. With the help of cluster analysis, it was found that carriers of the A allele of the LGALS-3 (rs2274273) gene are more likely to be included in unfavorable cluster 1. In contrast, in cluster 2, with a more favorable course of the disease, carriers of the GG genotype and carriers of the A allele occur with almost the same frequency. Conclusions. In postmenopausal women, residents of the Podillya region of Ukraine, carrying the A allele of the LGALS-3 (rs2274273) gene is associated with a more severe course of EH with the development of LVH, a higher concentration of galectin-3 in the blood plasma, and the formation of CHF with reduced LVEF when compared with carriers of the genotype GG.

The role of galectin-3 in patients with permanent and paroxysmal Atrial Fibrillation and echocardiographic parameters of left atrial fibrosis.

Biochemical markers and imaging tests have been used with the aim of stratifying the risk and detecting atrial fibrosis. Speckle-tracking echocardiography (STE) is used for the detection of atrial fibrosis and Gal-3 provides an important prognostic value. The objective of the study was to assess the association between atrial fibrosis markers and serum levels, genetic polymorphisms and genic expression of galectin-3. 206 patients with permanent AF and 70 patients with paroxysmal AF were included in the study. Real time PCR (TaqMan) system was used to study SNPs rs4652 and 4644 of the gene LGALS3. Serum levels of Gal-3 were determined by ELISA and STE was performed to assess fibrosis. Mean age of individuals with permanent AF was 66.56 ± 12 years. As for the echocardiography results, those patients showed an decrease in the following parameters peak atrial longitudinal strain (PALS) (p = 0.002) when compared to the same parameters from the paroxysmal AF group of patients. There was a correlation between serum levels of Gal-3 and PALS in the group of patients with permanent AF; the lower the levels of gal-3, the lower the LA strain (r = 0.24; p = 0.01). Echocardiographic findings showed association with the groups, and with serum levels of Gal-3 in patients with permanent AF. The distribution of allelic and genotypic frequencies, and of the haplotypes of polymorphism LGALS3 rs4652 and rs4644 did not present statistical variation, which suggests that those SNPs are not associated with the AF clinical forms (permanent and paroxysmal).

Genetic predisposition to nonalcoholic fatty liver disease: insights from ANGPTL8 gene variants in Iranian adults

Nonalcoholic fatty liver disease (NAFLD) is a prevalent chronic liver disease with a global prevalence, and modulation of ANGPTL8 expression has emerged as a promising predictor of NAFLD susceptibility. This research was conducted to scrutinize ANGPTL8 protein expression in NAFLD patients and elucidate the interplay between ANGPTL8 gene polymorphisms and their lipid profiles, thus shedding new light on the pathophysiology of this complex disease. The study comprised 423 unrelated participants, including 222 healthy controls and 201 individuals with NAFLD, screened using FibroScan/ultrasonography and laboratory tests. The main goal focused on the genotype and allele frequency distribution in the ANGPTL8 gene, specifically analyzing two genetic variations: rs737337 (T/C) and rs2278426 (C/T). The participants diagnosed with NAFLD were slightly younger (P ≥ 0.05) and had a higher body mass index (BMI) than the individuals in the control group. Notably, there was a significant difference in the occurrence of the rs737337 polymorphism between the NAFLD and control groups, with a lower frequency observed in the NAFLD group. Our results indicated that individuals with the TC + CC genotype and C allele of rs737337 (T/C) had a decreased risk of higher levels of ALT and AST. Conversely, those with the CT, CT + TT genotype, and T allele of rs2278426 (C/T) exhibited an increased risk of higher levels of ALT and AST. The results imply that the rs2278426 (C/T) variant of the ANGPTL8 gene is more strongly linked to an increased risk of NAFLD compared to the rs737337 polymorphism. However, additional research is needed to understand the specific molecular mechanisms responsible for the upregulation of ANGPTL8 in individuals with NAFLD.