Gene Polymorphism In Patients Research Articles

Association of serotonin transporter gene polymorphism with efficacy of the antidepressant drugs sertraline and mirtazapine in newly diagnosed patients with major depressive disorders.

We examined the association of serotonin receptor transporter gene polymorphism in patients with MDD with the clinical efficacy of mirtazapine (MZ) and sertraline (ST). Newly diagnosed, treatment naïve, 80 MDD patients (aged 18-45) diagnosed using DSM-5 criteria and with Beck's depression inventory score (BDI) score ≥21 were included and randomly divided into two groups of 40 participants and were administered MZ 15-45mg/day or ST 25-200mg/day respectively. Patients were followed up for 6weeks for evaluation of BDI scores. Genotypic evaluation was done and three allele variants were identified based on the polymerase chain reaction fragment sizes: short (S; 486bp), long (L; 529bp), or extralong (XL; 612 or 654bp) and classified into five genotypes: S/S,S/L, L/L, S/XL, and L/XL. We found that 32.5% patients belonged to the S/S genotype, suggesting that individuals with the SS genotype are at higher risk of developing MDD. No statistically significant association was seen with ST or MZ groups on the basis of genotypes. Clinically significant improvement was observed with a more than 50% reduction in BDI scores at 6weeks of treatment with both drugs. Identification of risk population can be carried out by genotype testing. Prior genotyping in MDD patients might help to predict a better clinical outcome with antidepressants.

PECAM1, COL4A2, PHACTR1, and LMOD1 Gene Polymorphisms in Patients with Unstable Angina.

Coronary artery disease (CAD) is a syndrome resulting from myocardial ischaemia of heterogeneous pathomechanism. Environmental and genetic factors contribute to its development. Atherosclerotic plaques that significantly narrow the lumen of coronary arteries cause symptoms of myocardial ischaemia. Acute coronary incidents are most often associated with plaque rupture or erosion accompanied by local activation of the coagulation system with thrombus formation. Plaque formation and stability are influenced by endothelial function and vascular smooth muscle cell function. In this study, we investigated the association between polymorphisms in genes affecting endothelial and vascular smooth muscle cell (VSMC) function and the occurrence of unstable angina pectoris. The aim of this study was to evaluate the association between the PECAM1 (rs1867624), COL4A2 (rs4773144), PHACTR1 (rs9349379) and LMOD1 (rs2820315) gene polymorphisms and the risk of unstable angina. The study included 232 patients with unstable angina diagnosed on the basis of clinical symptoms and coronary angiography and 144 healthy subjects with no significant coronary lumen stenosis at coronary angiography. There were no statistically significant differences in the distribution of COL4A2 rs4773144 and PECAM1 rs1867624 gene polymorphisms between patients with unstable angina and control subjects. In patients with unstable angina, there was an increased frequency of PHACTR1 rs9349379 G allele carriers (GG and AG genotypes) (GG+AG vs. AA, OR 1.71; 95% CI 1.10–2.66, p = 0.017) and carriers of the LMOD1 rs2820315 T allele (TT and CT genotypes) (TT+CT vs. CC, OR 1.65; 95% CI 1.09–2.51, p = 0.019) compared to the control group. The association between these alleles and unstable angina was confirmed by multivariate logistic regression analysis, in which the number of G (PHACTR1 rs9349379) and T (LMOD1 rs2820315) alleles was an independent risk factor for unstable angina. The results suggest an association between PHACTR1 rs9349379 and LMOD1 rs2820315 polymorphisms and the risk of unstable angina.

Investigation of eNOS G894T Gene Polymorphism in Patients with Pseudoexfoliation Syndrome: A Preliminary Study.

Objectives:The aim of this study is to investigate the relationship between pseudoexfoliation syndrome (XFS) and pseudoexfoliative glaucoma (XFG) and endothelial nitric oxide synthase (eNOS) G894T polymorphism.Methods:Seventy-eight eyes of 78 patients who had undergone uncomplicated cataract surgeries for senile cataract were included in this study. Forty patients with XFS were included in the study group, and 38 patients without XFS constituted the control group. Patients with XFS were divided into two subgroups according to their XFG development, and subgroup analysis was performed. Venous blood samples were taken from all patients before surgery and 894 G>T (rs1799983) polymorphism on the eNOS gene was evaluated by RT-PCR.Results:While the mean age in the control group was 65.97±10.64 years (23 males and 15 females), the mean age in the study group was 73.05±6.79 years (30 males and 10 females), (p<0.001). Regression analysis of the risks caused by the genotype and alleles between the control and study groups revealed that the homozygous alleles were more common in the study group, and heterozygous or mutant alleles have reduced the development of XFS approximately 2-folds. However, this was not statistically significant (p=0.11). Similarly, when subgroup analysis was performed, it was found that there was no significant relationship between XFG in patients with XFS and gene polymorphism.Conclusion:In this study, it was observed that there was no relationship between the G894T polymorphism in the eNOS gene and the development of XFS/XFG.

Examination of IL-6 -174 gene polymorphism in patients diagnosed with primary knee osteoarthritis: A case-control study

Degenerative osteoarthritis (OA) is the most common joint disease. However, its etiology has not been clearly understood. We aimed to investigate the association between the IL-6-174G/C gene variant responsible for regulating IL-6 functions and primary knee osteoarthritis (PKOA). Patients older than 40 years who presented between February 2012 and April 2013 and were diagnosed with PKOA and had grade 3 (i.e., moderate) or 4 (i.e., severe) disease constituted the case group. Healthy volunteers formed the control group. Genomic DNA was extracted from blood leukocytes in both case and control groups, and the IL6-174 G/C genotypes were determined. Two groups were compared regarding demographic, clinical, radiological findings, and IL-6-174 genotyping results. Both case and control groups included 90 patients each. No statistically significant difference was found between the two groups regarding gender distribution, patient age, and body weight. The frequency of the mutant base pairs GC and CC in the IL-6-174 promoter region were significantly higher in controls than in cases. Women with genotypes including C alleles were genetically protected against the clinical disease. Similar findings were not detected in the male patient group. The IL6-174 G/C gene polymorphism does not increase the risk of PKOA. However, the mutant C allele can be protective against PKOA in female patients. Studies conducted on larger patient populations from different ethnic backgrounds are needed to confirm our findings since our sample size is relatively small.

Analysis of interferon gene polymorphism in patients with HDV infection in the Republic of Sakha (Yakutia)

Analysis of interferon gene polymorphism in patients with HDV infection in the Republic of Sakha (Yakutia)

THE EFFECT OF NOS3 AND AGTR1 GENOTYPES ON THE COURSE OF THE ARTERIAL HYPERTENSION FOR THE OVERWEIGHT OR OBESE PATIENTS

The aim: Objective of the research is to determine the effect of NOS3 and AGTR1 genotypes of patients with arterial hypertension and high body mass index in the course of the disease. Materials and methods: 58 patients (22 men and 36 women) with AH and high BMI were examined. The average age of the examined patients was 53.6±8.7 years. The analysis of rs1799983 polymorphisms of the NOS3 gene (localization 7q36.1; 7:150999023) and AGTR1 (type 1 receptor for angiotensin 2 1166 A&gt;C) was performed using TaqMan assay (Thermo Fisher Scientific, USA) by real-time PCR (Applied Biosystems, USA) using TaqMan probe amplification products. Genomic DNA samples were isolated from stabilized blood using a Genomic DNA Mini Kit reagent (Invitrogen, USA). The Statistica 10 program (StatSoft Inc.) was used for statistical processing of the obtained data, USA). The independent samples were compared using the Mann-Whitney (U) criterion. In all cases of statistical evaluation, the reliability of differences was taken into account at a value of p&lt;0.05. Results and conclusions: Polymorphism of the NOS3 and AGTR1 genes is associated with early development and complicated course of cardiovascular pathology. The combination of NOS3 and AGTR1 gene polymorphism in patients with the high body mass index increases the risk of complications in hypertension. Using a mathematical model to predict the probability (95%) of genetic mutations in two genes (NOS3 and AGTR1) increases the effectiveness of diagnosis for patients with the high risk of developing cardiovascular complications.

Clinical Impact of Platelet Reactivity and Gene Polymorphisms in Patients With Ischemic Heart Disease After Percutaneous Coronary Intervention

Clinical Impact of Platelet Reactivity and Gene Polymorphisms in Patients With Ischemic Heart Disease After Percutaneous Coronary Intervention

Role of interleukin gene polymorphism in patients with chronic and aggressive periodontitis: A narrative review

Role of interleukin gene polymorphism in patients with chronic and aggressive periodontitis: A narrative review

CYP3A4*2 Gene Polymorphism and its association with Clinical Phenotyping (temperament) Concept of Unani Medicine Philosophy in Indian Population

Phenotypic heterogeneity is one of the major concerns in personalized medicine. Variations in drug metabolism rates vary in every individual and have been associated with drug metabolizing gene polymorphism. CYP3A4*2 gene polymorphism in drug metabolism has been reported to be associated with a range of diseases. In this regard, the present investigation is aimed to determine the possible association of Unani philosophy of temperaments (clinical phenotypes) with CYP3A4*2 gene polymorphism in patients and controls. In the present study, 800 subjects were analyzed for CYP3A4*2 gene polymorphism by PCR-RFLP technique in four different clinical phenotypes (Sanguine, Phlegmatic, Choleric and Melancholic) as per unani philosophy. Mutant allelic frequencies of patients and controls of four unani temperaments are sanguine (Damavi) (0.19 vs 0.12), phlegmatic (Balghami) (0.21 vs 0.11), bilious (Safravi) (0.23 vs 0.11) and melancholic (Saudavi) (0.16 vs 0.11) subjects. Safravi (p&lt;0.04) and Balghami (p&lt;0.01) results are statistically significant. Bilious (Safravi) and phlegmatic (Balghami) patients showed significant association with CYP3A4*2 gene polymorphism with 1.76 and 2.04 odds risk. Further such studies are essential in unani regime for providing better treatment for many diseases which require personalized medicine based on phenotype-genotype correlation.

Determination of serum vascular endothelial growth factor (VEGF) and VEGF receptor levels with VEGF gene polymorphisms in patients with Behçet’s uveitis

Behçet's disease (BD) is a chronic inflammatory vasculitis affecting multiple organs. Uveitis is frequently seen in patients with BD, especially in Turkish population. To investigate vascular endothelial growth factor (VEGF) gene polymorphisms along with the levels of VEGF and VEGF receptors in patients with Behçet's uveitis (BU). Fifty-five BD-associated uveitis patients and 30 ageand sex-matched controls were included in this case-control study. The genotypes of the single nucleotide poymorphisms (SNPs): rs2010963 (+405G), rs3025039 (+936T) and rs699947 (-2598A) of the VEGF-A gene were determined using real-time polymerase chain reaction (RT-PCR) and serum levels of VEGF and VEGF receptors were measured using enzyme-linked immunosorbent assay (ELISA). No associations of the VEGF gene polymorphisms were observed in BD uveitis patients, but arthritis was present in 53.3% of patients not possessing CT genotype in C3025039→T polymorphism (p = 0.024). Although there were no statistically significant differences in serum VEGF-A, VEGF-C and soluble vascular endothelial growth factor receptor-3 (sVEGFR-3) levels (p < 0.05), serum vascular endothelial growth factor receptor-1 (VEGFR-1) and sVEGFR-3 levels were significantly higher in the BD group (p < 0.001 and p = 0.001, respectively). In addition, VEGF-C/soluble vascular endothelial growth factor receptor-2 (sVEGFR-2) ratio was significantly higher (p < 0.001), while VEGF-A/VEGFR-1 and VEGF-C/sVEGFR-3 ratios were significantly lower (p < 0.001 and p = 0.033, respectively) in BD patients compared to controls. Also, VEGF-C/sVEGFR-3 (p = 0.024, r = 0.37) and VEGF-C/sVEGFR-2 (p = 0.020, r = 0.38) ratios were positively correlated with disease duration. The significant changes in sVEGFR-3 levels and VEGF-C/sVEGFR-3 ratio has shown that lymphangiogenesis processes might take place in the pathogenesis of BD uveitis, and these parameters can be important indicators of evaluation of BD patients with uveitis together with disease duration.

Prevalence of CYP2C19 Gene Polymorphism in Patients with Coronary Artery Disease Undergoing Percutaneous Coronary Intervention.

Prevalence of CYP2C19 Gene Polymorphism in Patients with Coronary Artery Disease Undergoing Percutaneous Coronary Intervention.

Analysis of Association Between the Effects of Methylphenidate and DRD4 Gene Polymorphisms in Patients with Attention Deficit Hyperactivity Disorder

Background: Drug treatment is one of the most important treatments for attention deficit hyperactivity disorder (ADHD). The DRD4 gene is a transporter and receptor coding gene of dopamine and is one of the most important genes under investigation in the disorder and etiology of ADHD. In this study, the association between rs3758653 C/T and VNTR exon 3 repetition polymorphisms of the DRD4 gene and the effects of methylphenidate were investigated in patients with ADHD disorder consuming methylphenidate. Methods: The descriptive-analytical study was performed on 122 patients (5 - 18 years old) with ADHD who were treated with methylphenidate. DNA was extracted using salting out method. Subsequently, the rs3758653 polymorphism in the 5'UTR region of DRD4 gene was genotyped by PCR-RFLP method, and the VNTR fragment in exon III of DRD4 gene was investigated by electrophoresis gel on acrylamide gel method. After eight weeks from the start of drug treatment with methylphenidate, the intensity of symptoms was evaluated using the Conners scale. Finally, all data from questionnaires and information that were resulted from laboratory findings were analyzed using ANOVA and repeated measure analysis. Results: Of the 122 patients under study, 15 patients (12.3%) were responded to the drug treatment, and 107 patients (87.7%) were not responded. The significant differences were not revealed in genotype, and allele frequencies of between rs3758653 (C/T) and exon III 3'VNTR repeats polymorphisms of the DRD4 gene and responder and non-responder of ADHD groups to the drug treatment. Conclusions: The results showed that the reduction of ADHD symptoms with drug treatment is not related to DRD4 sub-types in patients with ADHD.

DRD4 Exon 3 Gene Polymorphisms in Patients Diagnosed with Polysubstance Use Disorder and Co-Occurrence of a Depressive Episode.

Background: There has been a noticeable and systematic growth of the use of psychoactive substances over the past few decades. Dual diagnosis is a clinical term referring to the occurrence of psychoactive substance use disorder comorbid with another psychiatric disorder in the same person. The most common type of dual diagnosis is the co-occurrence of alcohol use disorder and mood disorders in the form of a depressive episode. Co-occurrent substance use disorders are frequently influenced by genetic factors. In selecting our area of research, we focused on dopamine and the DRD4 (Dopamine Receptor D4) gene polymorphism as well as associations with personality features. The aim of the study: The aim of the study was to compare DRD4 exon 3 (DRD4 Ex3) gene polymorphisms in patients diagnosed with polysubstance use disorder and co-occurrence of a depressive episode to DRD4 exon 3 gene polymorphisms in patients diagnosed with polysubstance use disorder and without co-occurrence of a depressive episode and a group of healthy volunteers. The study also aimed at establishing associations between personality features and DRD4 exon 3 gene polymorphisms of male patients diagnosed with polysubstance use disorder with co-occurrence of a depressive episode which may present a specific endophenotype of this group of patients. Methods: The study group comprised 602 male volunteers: patients diagnosed with polysubstance use disorder comorbid with a depressive episode (PUD MDD) (n = 95; mean age = 28.29, standard deviation (SD) = 7.40), patients diagnosed with polysubstance use disorder (PUD) (n = 206; mean age = 28.13, SD = 5.97), and controls (n = 301; mean age = 22.13, SD = 4.57). The patients and control subjects were diagnosed by a psychiatrist using the Mini International Neuropsychiatric Interview (MINI), the NEO Five-Factor Personality Inventory (NEO-FFI), and the State-Trait Anxiety Inventory (STAI) questionnaires. An analysis of the DRD4 exon 3 polymorphism was performed. Results: The patients diagnosed with PUD MDD compared to the control group of healthy volunteers showed significantly higher scores on both the STAI status and features scale and the NEO-FFI Neuroticism and Openness Scale, as well as lower scores on the Extraversion, Agreeableness, and Conscientiousness NEO-FFI scales. In the DRD4 exon 3 gene polymorphism, the s allele was more frequent in the PUD MDD compared to the l allele, which was less frequent. The results of the 2 × 3 factor analysis of variance (ANOVA) in patients and controls and the variant DRD4 exon 3 interaction were found on the Extraversion Scale and the Conscientiousness Scale of the NEO-FFI. Conclusions: The associations show that psychological factors combined with genetic data create a new area of research on addiction, including the problem of dual diagnosis. However, we want to be careful and draw no definite conclusions at this stage of our research.

Study of common chromosomal abnormalities and Plasminogen activator Inhibitor(PAI-1) gene Polymorphism (5G/4G) and Prothrombin (F2)gene mutation(G20210A) in women with recurrent abortions in the North West of Iran

Background. Parental chromosomal abnormalities as well as changes in genes encoding thrombophilic factors are common causes of recurrent abortions. One of the causes of thrombophilia is Factor II (F2) gene mutation (G20210A) and plasminogen activator inhibitor gene (PAI-1) polymorphism (4G/5G). Therefore, the present study aimed to investigate the frequency of chromosomal abnormalities and the association of thrombophilic gene polymorphisms in patients with abortion in northwestern Iran. Methods. In the present case-control study, cytogenetic analysis of 60 couples with a history of recurrent abortions was performed by the standard 72-hour culture of lymphocytes and G-banding. The polymorphism (5G/4G) of PAI-1 gene and the mutation (G20210A) of F2 genes were evaluated using RFLP-PCR and ARMS-PCR molecular methods, respectively. The obtained data were analyzed using statistical software. Results. No significant abnormalities affecting abortion were observed in cytogenetic studies; in the molecular study, the frequency of the 4G allele in patients and control groups were 54.2% and 33.3%, respectively; the frequency of 5G allele in the patients and control groups were 45.8% and 66.8%, respectively. The frequency of 5G/5G and 4G/5G genotypes is 25.0% and 41.6% in the patient group, and 55.0% and 23.3% in the control group, respectively. Also, the frequency of 4G/4G genotype in patients and controls were 33.3% and 21.6%, respectively. Conclusion. The results of this study show that there is a significant relationship between the frequency of the 4G allele of the PAI-1 gene with susceptibility to recurrent abortions in northwestern women, while no was relationship between F2 gene mutation and recurrent abortions was observed.

MicroRNA146a gene polymorphism in patients with rheumatoid arthritis and the relevant value with disease activity and extra-articular manifestations

Aim of the workTo analyze the relationship between miRNA-146a rs2910164 and rheumatoid arthritis (RA) susceptibility and clarifying its association with disease activity and extra-articular involvement. Patients and methodsThe study enrolled 50 RA patients and 40 controls. DNA extraction from whole blood was done. Genotyping was performed by real-time polymerase chain reaction. The selected single nucleotide polymorphism was rs2910164 in the miRNA-146a gene. Genotyping was performed on genomic DNA samples by allelic discrimination assay. Disease activity score (DAS28) and health assessment questionnaire-disability index (HAQ-DI) were assessed. ResultsThe mean age of patients was 44.8 ± 9.9 years while age at onset was 37.2 ± 9.8 years. Female:male was 5.3 vs 1. Females had significantly higher DAS28, visual analogue scale and rheumatoid factor (RF) than males (p = 0.04, p = 0.009, p = 0.03). The frequency of GC genotype was more in both males and females (62.5 vs 47.6%). GC genotype and G allele were the most frequent in patients. No significant difference in the frequency distribution of genotypes and alleles was observed between patients and controls. There was a significant difference in the number of swollen joints (p = 0.04) and sicca symptoms (p = 0.01) being higher in those with CC genotype with a tendency of increased DAS28, HAQ-DI, deformities and rheumatoid nodules with CC genotype and interstitial pulmonary fibrosis and RF with GG genotype. ConclusionsCC genotype was associated with sicca symptoms and swollen joints, deformities, disease activity and functional disability. miRNA-146a may be a potential biomarker for extra-articular manifestations of RA that need more attention and warrant aggressive therapy.

Investigation of macrophage migration inhibitory factors and gene polymorphisms in patients with psoriasis

Investigation of macrophage migration inhibitory factors and gene polymorphisms in patients with psoriasis

Transcription Factor 7-Like-2 (TCF7L2) rs7903146 (C/T) Polymorphism in Patients with Type 2 Diabetes Mellitus

Abstract Background Type 2 diabetes mellitus (T2DM) is a heterogeneous group of metabolic disorders characterized by the incapability of pancreatic beta cells to increase insulin secretion to compensate for insulin resistance in the peripheral tissues. T2DM is a multi-factorial disease including several environmental factors with the presence of genetic predisposition. The transcription factor 7-like-2 gene (TCF7L2) rs7903146 (C/T) polymorphism is one of the most susceptible genes to T2DM discovered to date, with contribution to the disease through the Wnt/β –catenin signaling pathway affecting pancreatic islet development, expression of several genes involved in insulin granules exocytosis and the incretin glucagon-like peptide 1 (GLP-1) gene. Aim of the Work In this study we aimed to investigate the potential association of the transcription factor 7-like-2 (TCF7L2) rs7903146 (C/T) gene polymorphism in patients with type 2 diabetes mellitus. Patients and Methods The study was a case- control study conducted on 70 T2DM patients recruited from the endocrinology clinic at Ain Shams University Hospitals, and 30 non diabetic healthy controls matched with the patients in age and sex. All subjects underwent full history taking, thorough clinical examination, routine laboratory investigations including haemoglobin A1c (HbA1c), lipid profile; total cholesterol (TC), triglycerides (TG), high density lipoprotein-cholesterol (HDL-C) and low density lipoprotein-cholesterol (LDL-C) and determination of TCF7L2 gene polymorphism by real-time quantitative polymerase chain reaction (RT-PCR). Results The minor T allele of the rs7903146(C/T) SNP was associated with high risk of development of T2DM with an OR of 1.35 (95% CI: 0.68-2.6), the heterozygous genotype (CT) with an OR 1.16 (95% CI: 0.49-2.7) and the homozygous mutant genotype (TT) with OR of 3.16 (95% CI: 0.15-6.31), however, they were statistically insignificant (p-value &amp;gt;0.05). Conclusion Our study did not confirm the presence of significant association between the TCF7L2 rs7903146(C/T) polymorphism and T2DM, however, it pointed to the possibility of presence of high risk of development of T2DM in patients with TT genotype. Further studies with higher sample size are needed to clarify the association.

Evaluation of vitamin D receptor gene polymorphisms in patients with differentiated thyroid carcinomas and nodular goiter.

The role of vitamin D has previously been determined in autoimmune and malignant thyroid diseases. We aimed to identify the haplotype distribution of single nucleotide polymorphisms (SNPs) in the vitamin D receptor (VDR) gene, which has been suggested to play a role in the pathogenesis of differentiated thyroid cancers and benign thyroid diseases. Two hundred and sixteen patients, 113 with benign and 103 with differentiated thyroid cancers, together with the same number of healthy controls, were included in the study. FokI, BsmI, ApaI, and TaqI SNPs in VDR were analyzed in all participants using the PCR-RFLP method. When the patients with differentiated thyroid cancers or the patients with nodular goiter and control cases were compared for BsmI, ApaI or TaqI polymorphisms, three genotype distributions (BB, Bb, bb; AA, Aa, aa; TT, Tt, tt) were found to not differ significantly. When the patients with differentiated thyroid cancers and control cases were compared for the FokI polymorphism in the VDR gene, the three genotype distributions (FF, Ff, ff) did not differ. However, in patients with nodular goiter, the FF genotype in the FokI polymorphism of the VDR gene was found to be statistically significantly higher (P=0.033). This is the first study in the literature evaluating the role of VDR gene SNPs in nodular goiter. We can suggest that SNP distribution in the VDR gene is not associated with malignancy but may cause some alterations in thyrocyte morphology and functions.

ABCA1 rs1883025 and CYP4F2 rs2108622 Gene Polymorphism Association with Age-Related Macular Degeneration and Anti-VEGF Treatment.

Background and Objectives: The age-related macular degeneration (AMD) pathophysiology is multifactorial, as it consists of interactions between aging, genetic, and environmental factors. We aimed to determine a relationship between AMD and the genes controlling lipid metabolism, and to assess its association with treatment results. The purpose was to find the ABCA1 rs1883025 and CYP4F2 rs2108622 gene polymorphisms in patients with exudative AMD (eAMD) treated with anti-VEGF. Materials and Methods: The study enroled 104 patients with eAMD and 201 healthy persons in a control group. The genotyping of rs1883025 and rs2108622 was performed using the RT-PCR method. The best-corrected visual acuity (BCVA) and central retinal thickness (CRT) were measured before anti-VEGF therapy, then at three and six months during the therapy, using optical coherence tomography (OCT). The patients were grouped to responders and non-responders according to the changes in BCVA and CRT. Results: The T allele at rs1883025 was more frequent in non-responder eAMD patients compared to responder eAMD patients (41.7% vs. 21.1%; p = 0.009). The analysis of rs2108622 gene polymorphism did not reveal any differences in the distribution of C/C, C/T, and T/T genotypes between the eAMD group and the control group (56.35%, 39.78%, and 3.87% in the eAMD group and 53.33%, 39.05% and 7.62% in the control group, respectively, p = 0.286). The comparison of CRT and BCVA between the rs2108622 genotypes revealed statistically significant differences: CRT was thicker for the CC carriers than for those with CT and TT genotypes (p = 0.030). Conclusion: The rs1883025 T allele was found to play a more significant role in non-responder eAMD patients compared to responder eAMD patients. The rs2108622 genotypes revealed statistically significant differences: CRT was thicker for the CC carriers than for those with CT and TT genotypes.

Investigation of HLA-DRB1 and IL28 gene polymorphism in patients with varying severity of COVID-19 infection

The work analyzed the polymorphisms of the HLA-DRB1 and IL28 genes in 100 patients who underwent COVID-19 with the development of infection with varying degrees of severity. To a mild degree of severity were patients without complications in the form of infectious pneumonate, to moderate and severe degrees - with the development of pneumonate with varying degrees of lung damage. In general, the distribution of alleles in patients with COVID-19 did not differ from the distribution of average values in Russia. However, the HLA-DRB1 *01 и *07 alleles were more common. Comparison of the frequency of HLA-DRB1 alleles in patients with COVID-19 with varying severity revealed more common alleles of *13 and *07 in the severety severe group. However, with OR of 3.2 and 1.8, their confidence intervals (CL) were in the range of 0.9-9.8 and 0.7-4.5 respectively. At severe severity, the presence of homozigotic variants of allele *07 is noted. (Fisher exact test, r.0.04). As for the IL28B gene, no statistically significant differences from the control group were found.