Nucleotide Polymorphisms In Patients Research Articles

Multi analytical approach to find out the risk factors in terms of single nucleotide polymorphisms in patients with coronary artery disease in Indian Asian Population

Background 
 Researches have revealed a connection between CAD (coronary artery disease) and genetics, with various biochemical tests established to evaluate its severity. The incorporation of bioinformatics has advanced biomedical research and improved data management efficiency. The current study's objective was to identify risk factors in terms of Single Nucleotide Polymorphisms, associated with CAD in an Indian Asian population, utilizing a combined approach
 Methods
 The present study was completed in two phases: First phase was a literature search for susceptible SNPs and Second comprised of a cross sectional study. In first phase, using bioinformatic techniques like PubMed parser and Natural Language Processing (NLP) and manual search, we tried to find out susceptible polymorphisms to CAD. In second step, Global Screening Array (GSA) (Illumina) was performed in extracted DNA samples of 97cases and 36 controls. Different biochemical tests like Hemogram, Lipids, Fasting Blood Sugar (FBS), LFT, KFT, Vitamin D and HbA1C were also done as per standard protocol.
 Results
 In literature search from 134 studies conducted across several continents and various populations with more a million cases and controls, we could retrieve a comprehensive dataset of 261 susceptible SNPs with pooled Odd’s ratio of 1.196.
 On observing 261susceptible SNPs in our GSA results, we could find 5 SNPs with significant p value including rs187238 of IL-18 gene at chromosome 11, rs731236 and rs2228570 of VDR gene at chromosome 12, rs11556218 of gene IL16 at chromosome 15 and rs5882 of CETP gene at chromosome 16. The earlier studies had reported association of these with several disease conditions and for CAD, pathways related to endothelial damage, susceptibility of vitamin D receptor (VDR) polymorphisms and lowering HDL-cholesterol and ultimately causing CAD. But among Indian population, all only rs5882 has been studied in CAD cases and that too has not shown any association. The polymorphisms regarding VDR gene are also novel in Indian population, further biochemical co-relation done in both cases and controls revealed more percentage of Vitamin D deficient in healthy controls.
 Conclusion
 To conclude, a set of 261 susceptible SNPs for CAD was gathered and out of which association of 5 SNPs in the Indian Asian population was observed. Further, this pool can be validated in different ethnic groups and may provide a valuable screening tool to separate the vulnerable high-risk population where primary prevention strategies can be implemented. We could find, the Vitamin D deficiency may be key reason for developing the disease and further, an alarming condition for seemingly healthy population.

Immunological consequences of CD91 Single Nucleotide Polymorphisms in patients with sarcomas

Abstract Tumor immunosurveillance is critically dependent on several immune cell types and proteins including CD91. CD91 is expressed on the surface of antigen presenting cells (APCs) and binds a select few heat shock proteins (HSPs) released by dying tumor cells. These HSPs carry tumor antigens and initiate anti-tumor immune responses in de novotumors. We have previously shown among multiple sarcoma types, osteosarcomas are poorly infiltrated by T cells and poorly immune edited. This correlates with reduced expression of CD91 on the surface of intratumoral APCs. CD91 is a highly polymorphic gene within the human population. Over 3500 single nucleotide polymorphisms (SNPs) have been identified, despite the relatively high conservation of CD91 throughout evolution. We have identified 155 of these SNPs within our sarcoma patient population, 11 of which are exonic and non-synonymous. We analyzed the immunologic data we obtained from patients with non-synonymous SNPs to patients with normal CD91 protein sequences. In addition, we used the computational modeling programs SIFT and PolyPhen-2 to predict the effects of these mutations on CD91 protein folding. SNPs rs746886209 and rs758644665 were indicated by both SIFT and PolyPhen-2 to have deleterious effects on CD91 folding and patients with these mutations had below average immune infiltration. While these data are currently correlative, we have developed an in vitromodel to obtain proof of concept.

Assessment of Angiopoietin-2 Single Nucleotide Polymorphism in Patients with Rheumatoid Arthritis.

Rheumatoid arthritis (RA) is an inflammatory autoimmune disease that destroys joint cartilage and causes disability. Synovial inflammation, with angiogenesis, is an early event in the progression of the disease. Angiopoietin 2 (ANGPT2) is a cytokine with both inflammatory and angiogenic effects. Many genes can influence RA susceptibility and disease activity. The aim is to assess the relationship between ANGPT2 gene polymorphism (rs3020221) and RA. The study was a case-control study that included 212 RA patients and 238 age-and gender-matched healthy volunteers. RA disease activity was assessed using the Disease Activity Score 28 index. Erythrocyte sedimentation rate, C-reactive protein, rheumatoid factor, and antibody to cyclic citrullinated peptide were measured. ANGPT2 rs3020221 C > T SNP genotyping was done using real-time polymerase chain reaction (PCR). The TT genotype was more frequently represented in RA patients than in healthy controls (18.9% and 7.1%, respectively, p < 0.001) and increased the chance of developing RA four-fold, as compared to other genotypes (OR = 4.00, 95% CI = 2.09-7.63) (p < 0.001). The CT genotype was associated with elevated levels of the inflammatory markers ESR and CRP in RA patients (p = 0.012 and 0.037, respectively) as well as the DAS28 ESR Score (p < 0.001). The presence of the T allele either under the dominant model (for genotypes CT and TT) or the recessive model (for the genotype TT) predicts RA disease. Assessment of ANGPT2 gene polymorphism is useful to predict the patients with susceptibility to RA. The presence of T allele increased the risk of developing RA disease by two folds.

Oral lichen planus and the Thr102Cys polymorphism of HTR2A: a pilot case-control study

Oral cancer is one of the most common types of cancer in the world, leading to over 177 000 deaths worldwide annually. The literature suggests that oral cancer might be preceded by potentially malignant oral lesions, such as oral lichen planus, a multifactorial chronic inflammatory condition with an autoimmune component. Smoking and alcohol consumption are two of the many triggers of oral lichen planus and oral cancer. Both habits have likewise been associated with the Thr102Cys polymorphisms in the HTR2A gene, which codes the 5-hydroxytryptamine receptor 2A (5-HT-2A). The aim of this study was to investigate the Thr102Cys polymorphism rs6313 (NG_013011.1:g.6230C>T on GenBank) in the HTR2A gene in patients with oral lichen planus, and to explore its association with smoking and alcohol consumption. This case-control study took place in 2009-16 in the Centre of Diagnosis of Oral Diseases of the Federal University of Pelotas, Brazil, a national reference centre in histopathological diagnosis. Women aged 18 years or older with a histopathological diagnosis of oral lichen planus and healthy controls aged 18 years or older were included. Each group included patients with and without smoking or alcohol consumption habits. Men and patients with other conditions were excluded. Cell samples from oral lesions were collected with cytological brushes (QIAamp DNA FFPE Tissue Kit, Qiagen, Hilden, Germany) for DNA extraction, and the Thr102Cys polymorphism was genotyped using 40x Human Custom TaqMan Genotyping Assay primers and probes (Life Technologies, Foster City, CA, USA). The study was approved by the Research Ethics Committee of the Federal University of Pelotas (reference 058/2008) and written consent was obtained from all participants. Statistical analyses were done with the Statistical Package for Social Sciences version 16.0. Categorical variables were analysed with the Chi-square test. Logistic regression analysis was presented by odds ratios (OR) and 95% CIs to evaluate the risk of Thr102Cys single nucleotide polymorphism in patients with oral lichen planus. 108 individuals were included (46 cases and 62 controls). Median age was 58 years (IQR 51-68). Significant differences were noted between patients in the control and oral lichen planus groups: smoking habits (p<0·0001), alcohol consumption (p=0·035), and presence of the Thr allele (p=0·021) were all higher in the control group. The adjusted logistic regression analysis showed that smokers had a reduced risk (OR 0·18 [95% CI 0·05-0·60]; p=0·005) of developing oral lichen planus compared with non-smokers. Moreover, individuals carrying the Thr allele in the Thr102Cys polymorphism also had a reduced risk (0·19 [0·05-0·67]; p=0·010) of developing oral lichen planus. Our results show that oral lichen planus is associated with the presence or absence of the Thr102Cys polymorphism and smoking habits. Although tobacco is a known carcinogen, the presence of the Thr allele in smokers might offer a protective effect to oral lichen planus development. Serotonin induces signalling cascades and platelet aggregation via 5-HT-2A, so even slight mutations might modify the receptor's function. Also, studies suggest that tobacco could alter and suppress immunological mechanisms. Considering the sample median age and that aging also affects immunity function, it is possible that mutations on 5-HT-2A receptors along with the tobacco immunosuppression might be beneficial in preventing immune-mediated disorders such as oral lichen planus. Nevertheless, it is noteworthy that the adverse effects of smoking far outweigh any benefits shown by this association. None.

Генетические аспекты неинфекционного эндокардита у пациентов с антифосфолипидным синдромом

Introduction. Antiphospholipid syndrome (APS) is an autoimmune thrombophilia in which patients with clinical criteria for recurrent arterial and venous thrombosis and/or pregnancy failure show positive laboratory results for the presence of antiphospholipid antibodies (aPL). The genetic predisposition to non-infectious endocarditis (NIE) in patients with APS remains a complex and poorly understood problem. Aim. Revealing of possible associations between polymorphisms of candidate genes and non-infectious endocarditis in patients with APS, as well as the development of possible thromboembolic complications. Materials and methods. The study involved 35 patients aged 43.0 ± 13.9 years. At the same time, the main signs characterizing NIE in APS were negative blood culture, normothermia, and the absence of obvious echoscopic signs of infection (thickening and induration calcification of the valve leaflets, minimal regurgitation). Polymorphisms of 18 genes were studied as possible molecular genetic markers for the development and/or protection of NIE in 35 patients with APS: the primary disorder was diagnosed in 15 patients (18.5%), secondary – in 20 patients with autoimmune patho¬logy (24.7%). Results. For the first time, for polymorphisms rs6025 (1691 G&gt;A) of the F5 gene, 4а/4b of the NOS3 gene, rs1800795 of the IL6 gene, rs1805087 (2756 A&gt;G) of the MTR gene, a significant association with the development of vegetations on the valvular heart apparatus in APS was revealed. Two polymorphisms, rs1126643 (807 C&gt;T) of the ITGA2 gene and rs1799889 (-675 5G&gt;4G) of the PAI1 gene (SERPINE1), were found to be associated with thromboembolic complications (acute cerebrovascular accident) in NIE. Conclusion. It is reasonable to perform genotyping of some single nucleotide polymorphisms in patients with APS.

Frequency of Lipoprotein (a) Single Nucleotide Polymorphisms in patients undergoing Familial Hypercholesterolaemia genetic testing

Frequency of Lipoprotein (a) Single Nucleotide Polymorphisms in patients undergoing Familial Hypercholesterolaemia genetic testing

Roles of endothelial lipase gene related single nucleotide polymorphisms in patients with coronary artery disease

The current work focused on evaluating the roles of endothelial lipase gene (LIPG) related single nucleotide polymorphisms (SNPs) in patients with coronary artery disease (CAD). This study involved 1,883 subjects with 959 CAD patients and 924 healthy controls. Data were harvested to assess the association of LIPG related SNPs including rs3744841, rs3744843, rs3813082 and rs2000813 with the risk of CAD. The CC+AC genotype in rs3813082 played a protective role for CAD [odds ratio (OR)=0.709, P=0.039]. Differences existed in apolipoprotein-A1 (Apo-A1) and high-density lipoprotein-cholesterol (HDL-C) levels in rs3744843 variant between control and CAD groups. The rs3744841 variant increased the levels of total cholesterol (TC), HDL-C, low-density lipoprotein cholesterol (LDL-C), Apo-A1 and Lipoprotein a (LPa) in the CAD group and TC, LDL-C, HDL-C, Apo-B, Apo-A1 in the control group. The triglyceride (TG) level was lower in rs2000813 variant in the CAD group and elevated in the control group. The rs2000813 variant decreased the number of vascular stenosis while rs3744843 and rs3744841 variants increased the number of vascular stenosis in CAD patients. This study explored the roles of LIPG related SNPs in CAD, showing that CC+AC genotype in rs3813082 was a protective factor for CAD. The rs3744843, rs3744841 and rs2000813 variants were associated with the levels of lipid parameters in CAD patients. The rs3744843, rs3744841 and rs2000813 variants influenced the number of vascular stenosis in CAD patients. The results of our study might be a promising reference for preventing CAD.

Interleukin 9 serum level and single nucleotide polymorphism in patients with asthma.

Background:Asthma is a chronic inflammatory disease of airways which accounts for a huge economic, morbidity, and mortality burden. There are different cytokines that contribute to asthma pathophysiology. Learning about these cytokines leads to attaining novel anti-inflammatory treatments for asthma control.Objectives:The objective of this study is to investigate the association between interleukin-9 serum level and gene polymorphism with asthma susceptibility.Methods:This was a case-control study of 70 asthmatic patients and 77 healthy control adults aged 18-60. Asthma diagnosis and severity were based on physician diagnosis, pulmonary function test (PFT) and 2016 guild line of Global Initiative for Asthma (GINA). Interleukin 9(IL -9) serum level was measured using sandwich enzyme linked immunosorbent assay. IL9 promoter single nucleotide polymorphism (SNP) (rs2069882) was also assessed using Real-Time PCR System.Results:There was no significant association between IL-9 SNP polymorphism and asthma. IL-9 serum level was significantly associated with asthma susceptibility (p value= 0.016) and absolute eosinophil count (AEC) (P value=0.033) however, its correlation with atopic asthma type, asthma severity and Immunoglubin E serum level were not statistically significant.Conclusion:Although there was no association between IL-9 SNP and asthma, but IL-9 serum level was significantly correlated with asthma susceptibility and AEC. (www.actabiomedica.it)

A pilot study on the relation between irisin single-nucleotide polymorphism and risk of myocardial infarction

BackgroundMyocardial infarction (MI) is the major cause of death and disability worldwide. Many recent studies revealed the relationship between circulating irisin levels, endothelial dysfunctions and subclinical atherosclerosis in adult patients. ObjectivesThe aim of this study was to investigate the distribution of Irisin gene single nucleotide polymorphism in patients with MI and its association with other clinical and laboratory variables in these patients. Patients and methodsThis study was carried out in 100 patients with MI, and 100 healthy subjects served as controls. All studied subjects underwent laboratory investigations, including measurement of total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-c) high-density lipoprotein cholesterol (HDL-c), creatinine kinase-MB (CK-MB), troponin I (TnI) and genotyping of rs 3480 and rs726344 of Irisin genes using the TaqMan Allelic Discrimination assay technique. ResultsThere was a significant difference of Irisin genotypes in patients when compared to controls. By estimating odd ratio (OR) an association was found between G allele of rs 3480 and A allele of rs726344with increase the risk of developing myocardial infarction by 4.03 and 3.47 fold respectively. GG of rs 3480 carriers had significantly increased Troponin I and triglyceride levels, while GA carriers of rs726344 had significantly increased CKMB, Total cholesterol, LDLc, HDLc, troponin I and triglyceride levels compared with other genotypes. ConclusionG allele of rs 3480 and A allele of rs726344can considered as genetic risk factors for MI; these findings could have an impact on preventive strategy for myocardial infarction.

INTERACTIONS AMONG INTERLEUKIN-6, C-REACTIVE PROTEIN AND INTERLEUKIN-6 (-174) G/C POLYMORPHISM IN THE PATHOGENESIS OF CROHN'S DISEASE AND ULCERATIVE COLITIS.

SUMMARYInflammatory bowel diseases are multifactorial disorders the clinical manifestation of which depends on the interaction among immune response, genetic and environmental factors. There is growing evidence that cytokines and gene polymorphisms have an important role in disease pathogenesis in various populations although molecular mechanism of their signaling and interactions is not fully understood yet. The present study aimed at exploring the effects of interleukin-6, C-reactive protein and interleukin-6 rs1800795 polymorphism on the development of Crohn’s disease, ulcerative colitis and inflammatory bowel diseases overall and at determining differences between inflammatory bowel disease patients and healthy controls. A total of 132 inflammatory bowel disease patients and 71 healthy blood donors were investigated. In order to assess the clinical relevance of interleukin-6 and C-reactive protein serum concentration and interleukin-6 rs1800795 single nucleotide polymorphism in patients with Crohn’s disease and ulcerative colitis, we performed a cross-sectional, case-control study. Quantitative assessment of serum interleukin-6 and C-reactive protein was performed with solid-phase, enzyme-labeled, chemiluminescent sequential immunometric and immunoturbidimetric assay, respectively. A real-time fluorescence resonance energy transfer-based method on a LightCyclerTM PCR 1.2 was used for genotyping of IL-6 rs1800795 polymorphism. Both interleukin-6 and C-reactive protein serum levels were elevated in Crohn’s disease and ulcerative colitis patients. Positive correlations were observed between C-reactive protein and interleukin-6 serum concentration and ulcerative colitis activity index as measured by modified Truelove-Witt’s severity index scale. C-reactive protein serum level was higher in Crohn’s disease patients without intestinal resection than in Crohn’s disease patients with prior intestinal resection. In ulcerative colitis patients, interleukin-6 and C-reactive protein serum levels were statistically significantly higher in CC interleukin-6 genotype in comparison to GG+GC genotype. Analysis of the promoter region of the interleukin-6 rs1800795 gene polymorphism showed no statistically significant difference in allele frequency either between inflammatory bowel disease patients and healthy controls or between the two inflammatory bowel disease phenotypes and healthy controls. Associations presented in this study give a potentially important insight into the role of interleukin-6 and C-reactive protein signaling and interleukin-6 polymorphism in the pathogenesis of Crohn’s disease and ulcerative colitis disease.

Estimation of CYP3A4*1B single nucleotide polymorphism in patients with recurrent Major Depressive Disorder.

BackgroundMajor depression is the most common mental illness in the world. Failures in treatment may occur due to the presence of a subtype of depression called TRD (Treatment‐ Resistant Depression). CYP3A4 polymorphism (rs2740574) can increase the activity of Cytochrome P450 3A4, contributing to faster metabolism of xenobiotics and reduced response to treatment. The aim of the study was to assess the distribution of CYP3A4*1B in study and control group and to estimate the influence of particular genotypes on parameters such as: age at onset, severity of symptoms before treatment and on the effectiveness of therapy.MethodsTotal of 192 patients were enrolled in this study (102 patients suffering from recurrent Major Depression Disorder, 90 healthy blood donors). PCR Restriction Fragment Length Polymorphism method with MboII enzyme was performed. The presence of CYP3A4*1B allele was evaluated on the basis of agarose gel electrophoresis.ResultsThere was a tendency in frequency of genotypes distribution in the study group in comparison with the control group (p = 0.050). There were no statistically significant differences in the distribution mutant allele among these two groups, but there was a tendency for mutant allele to occur more often in the study group (p = 0.050). No significant correlations were found between the specific genotype and the studied parameters: age at onset (p = 0.232), severity of the symptoms (p = 0.946), and efficacy of treatment (p = 0.882).ConclusionThe study suggests that CYP3A4*1B polymorphism have no influence on the predisposition to depression, the severity of depressive symptoms and the efficiency of antidepressant therapy.

Association between IL-10 Gene -592(C→A) (rs1800872) SNP and GVHD after Allogeneic Hematopoietic Stem Cell Transplantation in Children

To study the association between IL-10 gene-592(C→A) (rs1800872) single nucleotide polymorphism (SNP) and the graft versus host disease (GVHD) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children. Ninety-seven childhood patients and seventy-one donors in the Hematology Oncology Center of Beijing Children's Hospital from Jan 2011 to Jul 2017 were enrolled in this study. The genomic DNA was extracted from peripheral blood cells and the SNP genotype was analyzed using TaqMan SNP genotyping assay. In malignant patients with AA genotype, the incidence of Ⅱ-Ⅳ grade acute GVHD (aGVHD) was lower than that in patients with AC and CC genotype (9.1% vs 43.5%) (P＜0.01), and the gastrointestinal aGVHD rate was also lower (9.1% vs 39.1%) (P＜0.05). There's no significant association between patients' genotype and Ⅱ-Ⅳ grade aGVHD in total patients and non-malignant patients. Also, the genotype in patients did not corelate with chronic GVHD (cGVHD) and 1 year transplantation-related mortality (TRM). In cases who received HSCT of donors with AA genotype, the liver aGVHD rate was higher than that in cases who received HSCT of donors with AC and CC genotype (23.1% vs 0.0%) (P＜0.05), but the genotype in donors did not correlate with Ⅱ-Ⅳ grade aGVHD, cGVHD and 1 year TRM. AA genotype in the IL-10 gene-592 (C→A) (rs1800872) single nucleotide polymorphism in patients protects pediatric malignant patients against Ⅱ-Ⅳ grade aGVHD and gastrointestinal aGVHD after allo-HSCT. AA genotype in donors is a risk factor for liver aGVHD after allo-HSCT in non-malignant disease.

APPLICATION OF THE REAL – TIME PCR FOR THE DETECTION OF CYP2C19*2 SINGLE NUCLEOTIDE POLYMORPHISM IN PATIENS WITH GASTRITIS AT TRA VINH GENERAL HOSPITAL

The aim of this study is to identify CYP2C19*2 single nucleotide polymorphisms in patients with gastritis at TraVinh General Hospital. A cross-sectional study was conducted in 280 endoscopic gastric biopsy samples of patients with gastritis at TraVinh General Hospital. CYP2C19*2 genotypes were determined by realtime PCR method using TaqMan probes. Data were stored and analyzed by IBM SPSS Statistic (version 20.0; Armonk, New York, USA) and Excel 2010. The prevallelece of GG, AG and AA genotypes were 51.8, 39.6 and 8.6% correspondingly. The ratio of allele G and A were 0.716 and 0.284 respectively. The correlation of CYP2C19*2 polymorphisms with age (p=0.891), gender (p=0.652) was not significantly distinguished

TET2 rs2454206, TET2 rs12498609 and ASXL1 rs3746609 single nucleotide polymorphisms in patients with myelodysplastic syndromes

To study the association between TET2rs2454206, TET2rs12498609 and ASXL1rs3746609 and Myelodysplastic syndromes (MDS), a total of 90 MDS patients and 143 healthy volunteers were included. The clinical data, bone marrow samples of patients and peripheral blood samples of volunteers were obtained. We found TET2rs2454206 G/A genotype, TET2rs12498609 G/C genotype and ASXL1rs3746609 A/G genotype in 13.3%, 11.1%, 10.1% MDS patients and in 42.7%, 22.4%, 23.8% healthy volunteers (P < 0.001; P = 0.029; P = 0.009, respectively). TET2 rs2454206 G/A genotype was associated with higher serum LDH level in MDS (P = 0.025). Patients with TET2rs12498609 G/C genotype were characterized with higher frequency of mutated SRSF2 gene (P = 0.042) and lower occurrence rate of anemia (P = 0.026) than those with C/C genotype. ASXL1rs3746609 A/G genotype linked with higher thrombocyte counts (P = 0.02) and percent of total T lymphocyte (P = 0.029), whereas with lower percent of NK cell (P = 0.032) and B lymphocyte (P = 0.007). None of these three SNPs had impact on the overall survival and disease progression to AML. We concluded that People with TET rs2454206 G/A genotype, TET2rs12498609 G/C genotype or ASXL1rs3746609 A/G genotype were related to lower prevalence of MDS. All of the three SNPs were associated with certain laboratory features in MDS patients.

Relationship between Parameters Linked to Surgery, Hospitalization and Single Nucleotide Polymorphism in Patients with Colorectal Cancer.

Colorectal cancer (CRC) is the third most common type of cancer, the fourth leading cause of cancer related deaths worldwide and a major public health issue. Management is difficult, especially in elderly patients, and efforts for an individualized treatment are an asset for patients' wellbeing. Factors such as cumulated comorbidities, disease stage, and operative time may increase the length of hospitalization (LOH) and overall costs. The aim of this paper is to assess the impact of a single nucleotide polymorphism (SNP) - rs6983267 - on CRC risk in Romanian individuals. A case-control genotyping molecular study was performed on 32 patients diagnosed with CRC (median age 67.5 years) who underwent elective surgery and 30 patients withour CRC (median age 66 years). Genotyping rs6983267 was performed on DNA extracted from peripheral venous blood. Twenty fice patients were diagnosed with colonic cancer with different localizations, whereas seven had rectal cancers. Median LOH was 16.5 days. Genotyping for rs6983267 revealed no heterozygous (G/T) individuals within the control group, with all patients showing homozygous profiles (76.67% G/G, and 23.33% T/T), but the heterozyhous (G/T) genotype was present in 59.38% of the patients in the study group (with 21.88% G/G and 18.75% T/T genotypes). A higher percentage of CRC patients had at least one G allele (81.21%) when compared to controls (76.57%), although G allele frequency was higher in the control group due to an increased percentage of G/G homozygosity. When comparing clinical data between groups, we found an association between the lenght of hospitalization and factors that influenced operating time. Further research is still necessary to accurately calculate a CRC risk associated with the presence of this SNP in a Romanian population.

Single Nucleotide Polymorphism in Patients with Vein Thrombosis in the Population of Latvia

Single Nucleotide Polymorphism in Patients with Vein Thrombosis in the Population of Latvia

Antiphospholipid antibodies and single nucleotide polymorphisms in patients with venous ulcer in the population of Latvia

Background: Chronic venous insufficiency (CVI) may lead to leg ulceration (CVI stage C6) (Nicolaides A.N. et al., 2000). Some authors published that genetic risk factors are observed more frequently in patients with CVI stage C6. Also, an increased level of anticardiolipin antibodies (ACA) is observed in patients with CVI stage C6. CVI stage C6 more frequently develops in CVI stage C3 patients with positive antiphospholipid antibodies (APA) when compared to CVI stage C3 patients without APA. Objective: To identify the association of single nucleotide polymorphisms (SNPs) of genes F5 (rs6025), F2 (rs1799963), SELE (rs5361), SERPINC1 (rs2227589), FGG (rs20066865), CYP4V2 (rs13146272), F11 (rs2289252), GP6 (rs1613662) and APA antibodies with CVI stage in the population of Latvia. Methods: The study group consisted of 188 CVI patients. APA was detected in 89 CVI patients. The diagnostics of CVI was based on clinical and duplex ultrasound data (Philips Sparq, 2012). APA was detected using ELISA assay (according to the manufacturer’s protocol (Demeditec Diagnostics GmbH, Germany)). Statistical analysis was performed using Plink 1.06. Software and Fisher exact tests. Results: Polymorphism of gene F11 (rs2289252) showed an association with CVI stage C6 (OR=1.81 (p=0.024). A statistically significant elevation of APA was observed in patients with CVI stage C6 when compared to patients with CVI stage C3 (p=0.05). Conclusions: The polymorphism of gene F11 (rs2289252) and positive APA showed an association with CVI stage C6.

Evaluation of STAT3 rs1053004 single nucleotide polymorphism in patients with chronic hepatitis B and hepatocellular carcinoma

Chronic infection with hepatitis B (CHB) virus is one of the most important risk factors for Hepatocellular carcinoma (HCC). Hepatitis B virus (HBV) causes liver cancer in various ways. One of these ways is increasing the expression of the signal transducer and activator of transcription 3 (STAT3) in Hepatocytes by HBV. The purpose of this research is to evaluate the single nucleotide polymorphism (SNP) rs1053004 in the STAT3 gene in CHB patients and individuals who suffer from HCC. In this research, 33 patients CHB-related HCC, 50 patients infected with chronic hepatitis B infection (CHB) without HCC and 50 healthy individuals were investigated for the presence of rs1053004 in the STAT3 gene according to the PCR-based differentiation of alleles test. Data analysis presented a different and significant distribution of alleles and genotypes (p&lt;0.05). When the HCC and CHB groups were compared from the point of the frequency of alleles, the frequency of the C allele and CC genotype in the HCC group were higher CHB and control groups. Analysis of our data in the genotype model (CC vs. TT + TC) showed, this meaningful relationship remained between the HCC group and the three groups of CHB, healthy and all controls. These results illustrate that perhaps rs1053004 polymorphisms in the STAT3 gene participated in the progression of hepatitis B to HCC in Iranian people.

Evaluation of STAT3 rs1053004 single nucleotide polymorphism in patients with chronic hepatitis B and hepatocellular carcinoma.

Chronic infection with hepatitis B (CHB) virus is one of the most important risk factors for Hepatocellular carcinoma (HCC). Hepatitis B virus (HBV) causes liver cancer in various ways. One of these ways is increasing the expression of the signal transducer and activator of transcription 3 (STAT3) in Hepatocytes by HBV. The purpose of this research is to evaluate the single nucleotide polymorphism (SNP) rs1053004 in the STAT3 gene in CHB patients and individuals who suffer from HCC. In this research, 33 patients CHB-related HCC, 50 patients infected with chronic hepatitis B infection (CHB) without HCC and 50 healthy individuals were investigated for the presence of rs1053004 in the STAT3 gene according to the PCR-based differentiation of alleles test. Data analysis presented a different and significant distribution of alleles and genotypes (p&lt;0.05). When the HCC and CHB groups were compared from the point of the frequency of alleles, the frequency of the C allele and CC genotype in the HCC group were higher CHB and control groups. Analysis of our data in the genotype model (CC vs. TT + TC) showed, this meaningful relationship remained between the HCC group and the three groups of CHB, healthy and all controls. These results illustrate that perhaps rs1053004 polymorphisms in the STAT3 gene participated in the progression of hepatitis B to HCC in Iranian people.

The profile of selected single nucleotide polymorphisms in patients with hypertension and heart failure with preserved and mid-range ejection fraction

The study aimed to assess the clinical significance of selected single nucleotide polymorphisms (SNPs) in patients with diastolic heart failure (HF): inflammation [-174 G/C Interleukin -6 (IL-6) rs1800795, tumor necrosis factor (TNF)-608 G/A rs1800629], fibrosis [Arg25Pro transforming growth factor β (TGF β) rs1800471], endothelial function [-786 T/C nitric oxide synthase (NOS) rs2070744], glucose and lipid metabolism [Pro12Ala peroxisome proliferator activated receptor (PPAR)γ rs1801282], and vitamin D metabolism [cytochrome P450 27B1 (CYP27B1) C-1260A].110 patients with HF with preserved and mid-range ejection fraction (HFpEF and HFmrEF) were recruited. GG homozygotes in 174 G/C of IL6 polymorphism are characterized by higher values of estimated glomerular filtration rate based on the study Modification of Diet in Renal Disease (eGFR MDRD) and C allele in the NOS polymorphism and AA profile in C-1260A of CYP27B1 polymorphism correlated with a lower eGFR (MDRD). In multivariate analysis the CG genotype for 174 G/C of IL-6 and allele A in C-1260A of CYP27B1 are the only SNPs independently associated with worse course of HFpEF and HFmrEF. These data confirm the importance of the selected SNPs in aggravation and complications of hypertension.