Polymorphism Genotyping Research Articles

Extended sperm storage recorded in red-tailed phascogale (Phascogale calura) during a trial translocation to Vulkathunha-Gammon Ranges National Park, South Australia

We present a case of extended sperm storage in a female red-tailed phascogale (Phascogale calura) during a trial reintroduction in 2022. Parentage reported by single nucleotide polymorphism genotyping revealed the father of one litter had died approximately 50 days before the litter was born. The recorded gestation period for red-tailed phascogales is 28–32 days. Our record indicates sperm storage and/or diapause of up to 15–27 days, at least double the previously recorded sperm storage duration in this species.

Cardio-metabolic Disorders Affected by Genetic Polymorphisms Related to Premature Menopause.

Premature menopause (PM) is defined as the end of ovulation before the age of 40 years, a condition commonly referred to as primary ovarian insufficiency. It has been shown there is an association between early menopause and a high risk of cardiovascular disease. This study aimed to evaluate the effect of genetic polymorphisms related to premature menopause on cardio-metabolic disorders Objective: We aimed to investigate the single nucleotide polymorphisms associated with PM and the risk of cardio-metabolic disorders in the MASHAD cohort study. In this cross-sectional study, a total of 117 women with PM were recruited and compared with 183 healthy women. All participants were assessed for anthropometric indices and genotyped for eight selected polymorphisms within seven different genes. A significant difference was observed in physical activity level (PAL) between the groups. Individuals with rs4806660 CC genotype had a 3.63-fold increased risk of metabolic syndrome. Moreover, individuals with a TT genotype of the rs2303369 polymorphism had a 3.11-- fold increased risk of obesity. Our findings showed that genetic variations are risk factors related to cardio- metabolic disorders in women with premature menopause.

Genetic variants in BDNF (rs6265 and rs11030119) and stroke susceptibility: a case-control analysis in South India

Background Stroke occurs when the blood supply to part of the cerebral cortex is blocked, depriving it of oxygen and glucose, leading to cell death. It is a multifactorial disorder influenced by genetic, vascular, and environmental factors. Aim This study investigated the association between two polymorphisms of the brain-derived neurotrophic factor (BDNF) gene, rs6265 and rs11030119, and stroke risk in a South Indian population. Subjects and Methods The study included 163 stroke cases and 160 healthy controls. Genomic DNA was extracted, and genotyping of rs6265 and rs11030119 polymorphisms was done using ARMS-PCR. Allelic and genotype frequencies were calculated, and odds ratios (OR) with 95% confidence intervals (CI) were determined using SPSS version 21.0. Results The rs6265 polymorphism was significantly associated with stroke risk, with the GG genotype more frequent in controls (OR 1.79, 95% CI 1.05–1.76, p = 0.01). The rs11030119 polymorphism showed a positive association, with the AA genotype more prevalent in cases (OR 2.70, 95% CI 1.34–5.44, p = 0.003). Conclusion This study suggests an association between BDNF polymorphisms (rs6265, rs11030119) and stroke risk in a South Indian population. Further research in larger populations is necessary to confirm these findings and explore the mechanisms involved.

The rs2275738 variant of the adiponectin receptor 1 gene is associated with biopsy-proven nonalcoholic fatty liver disease.

Aim: Nonalcoholic fatty liver disease (NAFLD) is a significant health issue worldwide. This study investigated the effect of the adiponectin receptor 1 gene (ADIPOR1) polymorphism on susceptibility to NAFLD.Methods: Data from 330 participants, including 165 biopsy-proven NAFLD patients and 165 healthy controls, were collected. The PCR-RFLP method was used to detect the genotypes of ADIPOR1 rs2275738 or T-106C variant.Results: The "CC" genotype of the ADIPOR1 rs2275738 polymorphism, compared with the "TT" genotype and the "C" allele, compared with the "T" allele, are markers of increased NAFLD susceptibility (p=0.018; OR=2.07, 95% CI=1.43-2.01 and p=0.041; OR=1.52, 95% CI=1.24-2.35, respectively).Conclusion: This research suggests, for the first time, that the ADIPOR1 rs2275738 "CC" genotype is associated with a 107% increased risk for biopsy-proven NAFLD.

FCGR3A V158F gene polymorphism and trastuzumab response in HER2-positive breast cancer patients

Breast cancer is considered a multifactorial disease, with genetic factors playing an important role in diagnosis and treatment. FCGR3A encodes the receptor for the Fc portion of immunoglobulin G that has been linked to the trastuzumab response. Our study aimed to investigate the association of FCGR3A-V158F gene polymorphism with breast cancer and to evaluate the impact of FCGR3A-V158F gene polymorphism on trastuzumab response in HER2-positive breast cancer patients. The study was conducted on eighty breast cancer patients who were collected from the Department of Oncology at Ain Shams University Hospitals; in addition, twenty age-matched healthy subjects were taken as a healthy control group. Patients were further sub-classified according to their responses. The study showed that there were no statistically significant differences between patients and controls regarding FCGR3A-V158F gene polymorphism genotypes. However, there was a significant association between the concordance of this polymorphism and the response to trastuzumab therapy among the patient’s group. V/V is associated with better treatment response and overall survival (OS) compared to F/V and F/F alleles. Assessment of FCGR3A-V158F gene polymorphism might be useful in making a treatment decision in HER2-positive breast cancer patients.

Impact of HHIP gene polymorphisms on phenotypes, serum IL-17 and IL-18 in COPD patients of the Chinese Han population

BackgroundGenetic factors, including the Hedgehog Interacting Protein (HHIP) gene, play a crucial role in Chronic Obstructive Pulmonary Disease (COPD) susceptibility. This study examines the association between HHIP gene polymorphisms and COPD susceptibility, phenotypes, and serum IL-17 and IL-18 levels in a Han Chinese population.MethodsA case-control study was conducted with 300 COPD patients and 300 healthy controls in Chinese Han population. Participants underwent genotyping for HHIP gene polymorphisms, pulmonary function tests, and quantitative CT scans. DNA samples were sequenced using a custom chip targeting the HHIP gene. Serum IL-17 and IL-18 levels were measured by enzyme-linked immunosorbent assay. Associations between SNPs, COPD susceptibility, and phenotypes were analyzed using logistic and multiple linear regression models, adjusting for confounders.ResultsOur study identified the rs11100865 polymorphism in the HHIP gene as significantly associated with COPD susceptibility (OR 2.479, 95% CI 1.527–4.024, P = 2.39E-04) after screening 114 SNPs through rigorous quality control. Stratified analyses further indicated this association was particularly in individuals aged 60 or older. Serum levels of IL-17 and IL-18 were significantly elevated in COPD patients compared to controls, with rs11100865 showing a notable association with IL-18 levels (B = 49.654, SE = 19.627, P = 0.012). However, no significant associations were observed between rs11100865 and serum IL-17 levels, COPD-related imaging parameters, or clinical phenotypes.ConclusionThis study identified a significant association between HHIP gene polymorphisms and COPD susceptibility in a Han Chinese population, with connections to inflammation, but found no significant associations between this SNP and COPD-related imaging or clinical phenotypes.Trial registrationwww.chictr.org.cn ID: ChiCTR2300071579 2023-05-18.

Association of polymorphism of apolipoprotein e gene with acute myocardial infarction and its short term clinical outcome

Abstract Background/Introduction Myocardial infarction (MI) is a multifactorial disease influenced by environmental and genetic factors. Apolipoprotein E (ApoE) is a protein incorporated into serum lipoproteins directing their catabolism via binding to receptors. It is a structural component of both chylomicrons and very low density lipoprotein (VLDL) remnants. ApoE is thought to play a central role in atherosclerosis by participating in overall plasma cholesterol homeostasis. In addition to other classical risk factors, positive family history of cardiovascular disease (CVD) has been found to be significantly and independently associated with MI in epidemiological studies (1). Besides traditional cardiovascular risk factors it is likely that additional genetic factors like ApoE gene polymorphism may interact with environmental factors to determine overall cardiovascular risk of an individual to develop MI. Purpose The purpose of our study was to determine the risk of association of variants of ApoE gene with Acute Myocardial Infarction. Moreover, we also wanted to study the impact of ApoE gene polymorphism in short term major adverse cardiac events (MACE) in patients with MI not willing for coronary intervention. Methods In this case control study a total of 200 consecutively admitted AMI patients admitted to the coronary care unit of our hospital were enrolled to the study along with 200 age and gender matched controls admitted during the same time period . ApoE gene polymorphism was detected by DNA extraction, DNA amplification by PCR in a DNA thermal cycler followed by restriction enzyme digestion(2). Chi square test was used to investigate the difference in genotype and allele frequencies in casend controls and also between observed and expected frequencies in the realm of Hardy-Weinberg equilibrium. Odds Ratio (OR) with 95 % confidence interval and p values were calculated while analysing the association of different genotypes of ApoE genetic polymorphism with the disease and MACE. Logistic regression analysis was carried out amongst the groups under consideration to find the unadjusted OR and adjusted OR of the genotypes in relation to the disease.p<0.05 was considered as significant Analysis was done in SPSS software. Results Besides the traditional risk factors Apo E4 allele (OR 2.298, CI 1.305-4.044 ) and Apo E3/E4 genotype (OR 2.116, CI 1.008-4.443, p=0.048) showed strong of association with the disease. There was a higher population of Apo E3/E4 genotypes and Apo E2/E3 genotypes with MACE events (25.6% and 28.6%), while the common ApoE3/E3 genotypes had a MACE event of 10.5 %. However, the difference was not significant (p=0.071, Χ 2 =8.63 df =4). Similarly, ApoE4 allele showed a non significantly higher MACE events (p=0.22, Χ 2 =3.01 df =4) Conclusion ApoE4 allele and ApoE3/E4 genotype are strongly and independently associated with AMI.RISK FACTORS AND RISK OF MIGenotype and MACE

Identification of quantitative trait locus and positional candidate loci influencing chicken egg quality under tropical conditions.

Egg quality is a vital factor in the poultry industry. High-quality eggs not only meet consumer expectations for appearance, taste, and nutritional value but also have high marketability, profitability, and consumer satisfaction. Accordingly, we executed our research with the purpose of determining chromosomal regions and genetic markers associated with egg quality in an F2 cross-bred chicken population under tropical conditions; we determined these through a genome-wide association study and quantitative trait locus (QTL) mapping. This population was created by cross-breeding the L2 line of Taiwan Country chickens, which is adapted to local conditions in Taiwan, with an experimental line (R-line) of Rhode Island Red layer chickens, which was developed by the French National Research Institute for Agriculture, Food and the Environment. A 60K single nucleotide polymorphism (SNP) genotyping array for chickens was employed to execute the analysis. Our analysis revealed 40 QTLs associated with egg quality under tropical conditions, namely 20 QTLs with genome-wide statistical significance and 20 QTLs with chromosome-wide statistical significance. Furthermore, we identified 93 SNPs exerting discernible effects on egg quality, with 10 of these effects exhibiting genome-wide significance and 83 exhibiting potential significance. The majority of the detected QTL regions and SNPs agreed with those identified as having an association with egg quality or production traits in previous studies, thus supporting the interrelationships determined between the studied characteristics. The findings of this study enhance the understanding regarding the genetic regulation governing chicken egg quality, thereby serving as a valuable reference for future functional investigations.

VDR gene polymorphisms rs731236 and rsS2228570 affect vitamin D levels in people of the Kaliningrad region

Vitamin D is an essential micronutrient that is involved in numerous biological processes. It not only keeps bones healthy, but also has a protective effect on the cardiovascular system, the pancreas and fatty tissue. Around 50% of the world’s population suffers from vitamin D deficiency or insufficiency. The prevalence of these diseases is significantly higher in obese people, regardless of age and place of residence. The presence of polymorphisms in the VDR gene (vitamin D receptor) can explain individual differences in the concentration of vitamin D 25(OH) in blood serum. Of particular interest are the effects of the polymorphisms rs731236 and rs2228570 on vitamin levels. Thus, the VDR polymorphism rs731236 is a synonymous substitution, whereas the polymorphism rs2228570 is a non-synonymous substitution. The article investigated the polymorphisms of the VDR gene rs2228570 (T/C), rs731236 (T/C) and determined their association with blood vitamin D levels in people from the Kaliningrad region with different body mass index (BMI). The material for the study was venous blood taken in the morning on an empty stomach from 232 people (mean age 50±13.5 years, 103 men and 129 women). The vitamin D content in the blood was determined by ELISA and the polymorphisms of the VDR gene were analyzed by PCR. In individuals with a BMI 30 kg/m2, changes in the lipid profile and liver function tests were recorded. The vitamin D level did not depend on the BMI of the study participants. Significant changes in blood vitamin D levels were found depending on the distribution of the VDR genotype. Vitamin D levels were higher in individuals with the CC genotype than in the TT and CT genotypes of the rs2228570 polymorphism and did not depend on BMI. In contrast, the presence of the rs731236 polymorphism in the VDR gene is associated with BMI. In obesity, vitamin D levels are therefore only reduced in people with the TT genotype of the rs731236 polymorphism, but not in people with the CC and TC genotype.

Association between genetic variants (rs2839698, and rs217727) in lncRNA H19 and Acute lymphoblastic leukemia susceptibility: a case-control study in the Iranian population

Leukemia is a cancer affecting the hematopoietic system with an unclear pathogenesis. Recent studies suggest a correlation between several long non-coding RNAs (lncRNAs) and leukemia development. This study focuses on the potential link between H19 (rs2839698 and rs217727) polymorphisms and Acute Lymphoblastic Leukemia (ALL) susceptibility. The study involved 150 patients with clinically confirmed ALL and 150 controls. This research included 150 Iranian patients, who were confirmed to have clinical ALL, and 150 healthy people as the control group. A kit was utilized to extract the DNA of all the samples. After preparing the samples, DNA genotyping was done by using the tetra-primer ARMS-PCR method. After adjusting for age using multivariate logistic regression analysis, individuals carrying the CT genotype of rs2839698 were found to have a significantly 0.32-fold reduced risk of ALL compared with carriers of the CC genotype. Furthermore, a significant 0.48-fold reduction in ALL risk was observed in patients with CT+TT genotype rs2839698 compared with CC. Moreover, the over-dominant model was applied to compare the CT genotype of rs2839698 with its CC+TT genotype, which showed a significant 0.36-fold reduction of ALL risk. Notably, the cases of ALL and the control group were not significantly different in terms of their genotype and allele frequencies of rs217727 polymorphism. Yet, the TT haplotype was significantly associated with ALL risk (OR: 1.64, p = 0.025). Following the findings of this study, it can be concluded that H19 SNP rs2839698, rather than rs217727, might act as an innovative susceptibility marker for ALL leukemia.

Genetic polymorphism involved in major depressive disorder: a systemic review and meta-analysis

Background and objectiveGenetic polymorphism studies in families and twins indicated the heritability of depression. However, the association between genes with genetic polymorphism and depression provides various findings and remains unclear. Therefore, we conducted a systematic review and meta-analysis to determine the genes with their polymorphism associated with the symptomatic depression known as major depressive disorder (MDD).Materials and methodsPubMed and Scopus were searched for relevant studies published before May 22, 2023 (1968–2023), and 62 were selected for this review. The study’s bias risk was investigated using the Newcastle–Ottawa scale. Gene functional enrichment analysis was investigated for molecular function (MF) and biological process (BP) and pathways. A meta-analysis of the studied genes that were replicative in the same single nucleotide polymorphism was conducted using a random-effect model.ResultsThe 49 genes involved in MDD were studied and engaged in several pathways, such as tryptophan metabolism or dopaminergic and serotonergic synapses. Based on gene overlapping in MF and BP, 13 genes with polymorphisms were identified as related to MDD. Most of them were only studied once. Solute carrier family 6 member 4 (SLC6A4) overlapping between MF and BP and brain-derived neurotrophic factor (BDNF) as unique to BP were replicative studied and used in the meta-analysis. The polymorphism of SLC6A4 SS and LS genotypes increased the occurrence of MDD development but not significantly [odd ratio (OR) = 1.39; 95% confidence interval (CI) = 0.87–2.22; P = 0.16 and OR = 1.13; 95% CI = 0.84–1.53; P = 0.42, respectively]. A similar result was observed for BDNF rs6265 GG (OR = 1.26; 95% CI = 0.78–2.06; P = 0.35) and BDNF rs6265 AA genotypes (OR = 1.12; 95% CI = 0.77–1.64; P = 0.56). These studies indicated low bias and significant heterogeneity.ConclusionAt least 13 studied genes with polymorphisms were involved in MDD development according to MF and BP, but not significantly. These results suggest that MDD development risk factors might require genetic and other factors for interaction and induction.

Genotyping Error Detection and Customised Filtration for SNP Datasets.

A major challenge in analysing single-nucleotide polymorphism (SNP) genotype datasets is detecting and filtering errors that bias analyses and misinterpret ecological and evolutionary processes. Here, we present a comprehensive method to estimate and minimise genotyping error rates (deviations from the 'true' genotype) in any SNP datasets using triplicates (three repeats of the same sample) in a four-step filtration pipeline. The approach involves: (1) SNP filtering by missing data; (2) SNP filtering by error rates; (3) sample filtering by missing data and (4) detection of recaptured individuals by using estimated SNP error rates. The modular pipeline is provided in an R script that allows customised adjustments. We demonstrate the applicability of the method using non-invasive sampling from the Asiatic wild ass (Equus hemionus) population in Israel. We genotyped 756 samples using 625 SNPs, of which 255 were triplicates of 85 samples. The average SNP error rate, calculated based on the number of mismatching genotypes across triplicates before filtration, was 0.0034 and was reduced to 0.00174 following filtration. Evaluating genetic distance (GD) and relatedness (r) between triplicates before and after filtration (expected to be at the minimum and maximum respectively) showed a significant reduction in the average GD, from 58.1 to 25.3 (p = 0.0002) and a significant increase in relatedness, from r = 0.98 to r = 0.991 (p = 0.00587). We demonstrate how error rate estimation enhances recapture detection and improves genotype quality.

Single nucleotide polymorphism discrimination and genotyping based on cascade strand displacement reaction mediated label-free Cas12a system

Single nucleotide polymorphism (SNP) discrimination plays an important role in precision medicine by providing insights into an individual’s genetic information. The low abundance of the mutant target and the minimal impact caused by SNP on the whole nucleic acid sequence remain a challenge during discrimination. Herein, a cascade strand displacement reaction mediated label-free Cas12a sensing platform is established for SNP analysis. Split G-quadruplex (G4) motif is recruited as label-free signal output for Cas12a sensing system, and hence overcomes relying of fluorescence labeled substrates like conventional method. The established platform exhibits excellent single base difference discrimination ability attributing to the cascade strand displacement process, during which, single-base mismatch will affect the strand-exchange rate significantly. The limit of detection reaches 1 copy / test after integration with isothermal preamplification. The proposed method can discriminate as low as 0.1 % single base variation and perform robustly in biological matrixes. Human buccal swab samples are successfully genotyped with high accuracy.

Association between the G/G genotype of the lncRNA MEG3 rs7158663 polymorphism and proliferative diabetic retinopathy

Association between the G/G genotype of the lncRNA MEG3 rs7158663 polymorphism and proliferative diabetic retinopathy

Molecular epidemiology of seborrheic dermatitis/dandruff associated Malassezia species from northern India.

Malassezia is a commensal that sometimes become pathogenic under the influence of diverse factors. Several species of Malassezia are difficult to culture, making traditional methods of identification challenging. The problem with molecular typing of Malassezia in association with seborrheic dermatitis/dandruff (SD/D) arises due to the unavailability of these fastidious yeast cultures. The aim of the study was to investigate the association between fluorescent amplified fragment length polymorphism (FAFLP) genotypes, disease state (SD/D), and the geographic distribution of M. globosa, M. restricta and M. arunalokei. In total 154 isolates representing M. globosa (n=85), M. restricta (n=55), and M. arunalokei (n=14) from lesional/non-lesional areas of SD/D patients and healthy controls residing in the rural (n=77) and urban (n=77) areas of northern India were included. A strategy based on the FAFLP methodology was developed using two endonuclease enzymes (EcoRI and HindIII). M. globosa, M. restricta, and M. arunalokei formed eleven, three, and two FAFLP clusters respectively. Disease-specific strains of M. restricta and M. arunalokei preferentially tend to cause SD/D. M. restricta and M. arunalokei showed less genetic variation. M. globosa showed higher genetic diversity. FAFLP clusters revealed the existence of geographically specific strains in M. restricta, M. arunalokei, and M. globosa. Our findings suggest that certain Malassezia strains are not only disease-specific but also geographically distinct.

Investigation of the effect of catechol-o-methyltransferase gene rs4680 polymorphism on trigeminal neuralgia susceptibility

Research has been conducted to explore the genetic basis of trigeminal neuralgia, a persistent pain condition that impacts the trigeminal nerve. COMT is an enzyme responsible for inactivating substances and hormones containing catechol and catecholamines. Previous research has linked COMT gene polymorphism with various pain conditions, including migraine. Our research aimed to investigate the correlation between trigeminal neuralgia and the rs4680 polymorphism of the COMT gene. We conducted a research project which included 10 individuals diagnosed with trigeminal neuralgia and 30 healthy individuals as controls. Following collection of blood samples, we isolated DNA from the samples and then genotyping of COMT rs4680 polymorphism was performed with Real-Time PCR, using TaqMan SNP Genotyping Assay. Among the trigeminal neuralgia patients, 2 of them exhibited the AA genotype, 6 had the AG genotype, and 2 had the GG genotype for COMT rs4680. The AG genotype was notably prevalent. No statistically significant differences in the distributions of COMT genotypes and allele frequencies were found between the experimental (patients) and the control group. However, the AG genotype appeared to be more frequent in the patient group. Moving forward, we plan to expand our study by increasing the number of patients and control subjects. This will enable us to further elucidate the potential relationship between COMT gene polymorphism and trigeminal neuralgia.

Prevalence of Autosomal Monosomy and Trisomy Estimated Using Single Nucleotide Polymorphism Genotype Intensity Chip Information in a Large Population of Juvenile Dairy and Beef Cattle.

Aneuploidy, a genetic condition characterised by the deletion (monosomy) or duplication (trisomy) of a chromosome, has been extensively studied in humans, particularly in the context of trisomy on chromosome 21, also known as Down syndrome. Research on autosomal aneuploidy in live-born cattle has been limited to case reports, resulting in a lack of prevalence estimates of aneuploidy in cattle. Furthermore, the viability or lethality of aneuploidy on specific autosomes in cattle has not been well documented. The objective of this study was to estimate the prevalence of autosomal aneuploidy in a large population of new-born and juvenile beef and dairy cattle using single nucleotide polymorphism (SNP) chip genotype intensity data. Of the population of 779,138 cattle genotyped when younger than 15 months of age, 139 cattle (i.e., 0.017%) were diagnosed with one case of autosomal trisomy. Trisomy in only 10 different autosomes were detected (BTA 4, 6, 12, 15, 20, 24, 26, 27, 28 and 29) albeit the one case of trisomy detected on Bos taurus autosome (BTA) 4 was in an additional population of 341,927 cattle that were genotyped at > 15 months of age and was therefore excluded from prevalence estimates to minimise bias. The prevalence of trisomy per chromosome was generally inversely related to the length of the chromosome. Although the number of affected individuals was few, there was no evidence of differences in prevalence by breed, inbreeding level or parental age. The parental origin of the detected cases of trisomy was maternal for 92% of the cases. No cases of monosomy were detected despite the large dataset, which included calves genotyped at birth, indicating the potential lethal nature of monosomy in cattle. Cytogenetic testing was used to verify three of the animals with detected autosomal trisomy who were still alive. Eighteen of the 139 animals identified with autosomal trisomy were recorded as being stillborn, resulting in a prevalence of autosomal aneuploidy in live-born cattle of 0.015%. Of the 121 live-born cattle with autosomal trisomy, a total of 68 died on farm at, on average (standard deviation), 6.8 (8.7) months of age. All animals with autosomal trisomy on BTA 6, 12, 15, 20 or 24 were either stillborn or died on farm within 15 days of birth. This study is the first report of trisomy on BTA 4, 6, 15, 20 and 27 in live-born cattle, as well as the first to document fertile cows with trisomy on BTA 4, 27 or 28. Given that genotype intensity SNP data from SNP-chips are readily available, identifying animals affected with autosomal aneuploidy as well as quantifying and monitoring the incidence can be easily undertaken.

Influence of polymorphisms on the phenotype of TLR1, TLR4 and TLR9 genes and their association with cervical cancer: Bioinformatics prediction analysis and a case-control study

Susceptibility to cervical cancer has been associated with Toll-like receptors (TLRs), which is an important component of innate immunity. According to previous studies, polymorphisms in TLRs genes can affect immune response pathways and lead to the development of cervical cancer. The present study aims to evaluate the functionality of polymorphisms in TLR1, TLR4 and TLR9 genes and their associations with cervical cancer. To identify the functionality of polymorphisms, we used the following tools: MUpro, ChimeraX, SNP2TFBS and GTEx. A case-control study including 57 cases (11 High-grade Intraepithelial Lesion - HSIL and 46 cervical cancer) and 67 clinically healthy controls was conducted in the Brazilian population. Polymorphisms genotyping was performed by real-time PCR, using TaqMan probes, using the allelic discrimination method. Bioinformatics prediction showed that the TLR1 rs4833095 [NM_003263.4 (TLR1):c.743T>C (p.Asn248Ser)] and TLR4 rs4986790 [NM_138554.5 (TLR4):c.896A>G (p.Asp299Gly)] polymorphisms alter the structure and stability of their respective proteins. TLR9 rs187084 [NM_017442.3(TLR9):c.-1486A>G] polymorphism seems to affect the THAP1 binding site and modify gene expression. In the case-control study, the c.743TC heterozygous genotype of the rs4833095 SNP in the TLR1 gene was associated with an increased risk for HSIL/cervical cancer. No association of TLR4 rs4986790 and TLR9 rs187084 SNPs with HSIL/cervical cancer was found in the studied population. Allelic combination CAG (rs4833095/ rs4986790/ rs187084) increased the risk of cervical cancer. In conclusion, the present study identified that polymorphisms in TLRs genes can affect the phenotype of their respective genes and contribute to the development of HSIL or cervical cancer.

Features of prooxidant/antioxidant balance disorders in patients with diabetic nephropathy — carriers of different genotypes of G894T polymorphism of eNOS gene

Objective — to determinate the state of prooxidant‑antioxidant balance in patients with type 2 diabetes mellitus with nephropathy — carriers of different genotypes of G894T (rs 1799983) polymorphism of eNOS gene. Materials and methods. 126 patients with diabetic nephropathy (DN) were examined. The control group included 20 healthy individuals. Patients with type 2 diabetes mellitus (DM) were divided into two groups depending on the eNOS rs 1799983 gene polymorphism: group I — patients with DN and G/G genotype eNOS G894T gene (n=80); group II — patients with DN and G/T and T/T genotypes eNOS G894T gene (n=46). Results. The distribution of genotypes of the rs1799983 polymorphism of the eNOS gene corresponded to the Hardy‑Weinberg equilibrium. Data analysis demonstrated a significant difference in the frequency of occurrence of genotypes and alleles of the studied polymorphism in the group of patients with DN compared with controls, which corresponds to the dominant model of inheritance (odds ratio 0.31 (95% confidence interval 0.09—0.99), p=0.045). There were significant gender differences in the frequency of genotypes and alleles of the studied polymorphism in the group of patients with type 2 DM with DN: women had a significantly lower risk of the G/T polymorphism genotype than men. The study of total antioxidant activity (TAA) revealed significantly lower values of this parameter in patients with G/G genotype of the rs1799983 polymorphism of the eNOS gene compared to carriers of the T allele (G/T+T/T genotypes). In diabetic patients with different genotypes of the rs1799983 polymorphism of the eNOS gene, the levels of total hydroperoxides (THP) did not differ significantly. Homozygous and heterozygous carriers of the T allele of the rs1799983 polymorphism of the eNOS gene had a significant increase in the prooxidant‑antioxidant balance. Conclusions. In patients with DN, the distribution of genotypes of the G894T polymorphism (rs 1799983) of the eNOS gene corresponds to the Hardy‑Weinberg equilibrium in all studied groups and does not differ significantly from European populations. In men, the risk of having a heterozygous G/T genotype of the G894T (rs 1799983) polymorphism of the eNOS gene is 3 times higher than in women (according to the dominant model of inheritance, odds ratio 0.41 (95% confidence interval 0.20—0.83), p=0.013). In carriers of G/T and T/T genotypes, a significant increase in prooxidant‑antioxidant balance was observed against the background of a decrease in total antioxidant activity, compared with carriers of G/G genotype (p<0.05).

Comparison of MCM6 rs4988235 Polymorphism Allele and Genotype Frequencies in Professional Football Players and a Sedentary Control Group

Comparison of MCM6 rs4988235 Polymorphism Allele and Genotype Frequencies in Professional Football Players and a Sedentary Control Group