The investigation of BTLA single-nucleotide polymorphisms in patients with Behcet disease in Elazıg province

2020 ◽  
Vol 45 (3) ◽  
pp. 323-327
Author(s):  
Yasin Cetin ◽  
Nafiye Fulya Ilhan ◽  
Deniz Sen ◽  
Sevim Karakas Celik
Keyword(s):  
Lymphocyte Activation ◽  
Behçet Disease ◽  
Nucleotide Polymorphisms ◽  
Behcet Disease ◽  
Gene Encoding ◽  
Mortality And Morbidity ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Risk Of Disease ◽  
And Control

AbstractObjectiveBehcet Disease (BD) is a systemic chronic autoinflammatory disorder that significantly increases mortality and morbidity. Although B- and T-lymphocyte attenuator (BTLA) is important in regulating lymphocyte activation during inflammation and infection, it is unclear whether any polymorphism in the gene encoding the BTLA is associated with autoimmune diseases and cancer. The goal of the study was to research the relationship between the alleles, genotypes and haplotypes frequencies of chosen BTLA gene polymorphisms (rs184489 and rs9288952) and the risk of Behcet disease.Materials and methodsThe population of this study consisted of 108 patients with BD and 108 healthy controls. Genotyping for the rs184489 and rs9288952 polymorphisms were performed using PCR-RFLP method.ResultsIn terms of genotype and allele frequencies between the patient and control groups, there were no statistically significant differences (p > 0.05). However, there was a statistically significant difference in haplotype analysis between the two groups (p = 0.001). Moreover, carrying the T allele for the rs1844089 polymorphism and C allele for the rs9288952 polymorphism increase the risk of disease.ConclusionOur findings propose that CT haplotype might have a potential function in the susceptibility to BD.

scholarly journals Polymorphisms of ABCG2 and SLC22A12 Genes Associated with Gout Risk in Vietnamese Population

Medicina ◽  
2019 ◽  
Vol 55 (1) ◽  
pp. 8 ◽  
Author(s):  
Nguyen Thuy Duong ◽  
Nguyen Thy Ngoc ◽  
Nguyen Tran Minh Thang ◽  
Bach Thi Hoai Phuong ◽  
Nguyen Thanh Nga ◽  
...  
Keyword(s):  
Uric Acid ◽  
Serum Uric Acid ◽  
Nucleotide Polymorphisms ◽  
Ethnic Populations ◽  
Increased Risk ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Vietnamese Population ◽  
Hardy Weinberg Equilibrium ◽  
And Control

Background and objective: Gout is a common form of inflammatory arthritis caused by the crystallization of uric acid. Previous studies have demonstrated that the genetic predisposition of gout varies in different ethnic populations. However the association study of genetic variants with gout remains unknown in the Vietnamese population. Our study aimed to assess the relationship between polymorphisms in ABCG2 and SLC22A12 and gout susceptibility in Vietnamese. Materials and methods: Genomic DNA was extracted from blood of a total of 170 patients with gout and 351 healthy controls. We genotyped single nucleotide polymorphisms (SNPs): rs72552713, rs12505410 of the ABCG2 gene and rs11231825, rs7932775 of the SLC22A12 gene using polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) and then confirmed 10% of randomly selected subjects by Sanger sequencing. Results: Three SNPs (rs72552713 and rs12505410 and rs11231825) were in accordance with Hardy–Weinberg Equilibrium (HWE) (p > 0.05) while rs7932775 was not (p < 0.05). For rs72552713, CT genotype was significantly different between gout patient and control groups (p < 0.001) and the T allele was associated with an increased risk of gout (OR = 21.19; 95% CI: 3.00–918.96; p < 0.001). Serum uric acid and hyperuricemia differed significantly between CC and CT genotype groups (p = 0.004 and 0.008, respectively). For rs11231825, a protective effect against gout risk was identified in the presence of the C allele when compared with the T allele (OR = 0.712; 95% CI: 0.526–0.964 p = 0.0302). In contrast, no significant difference of allele frequencies between gout patients and controls was detected for rs12505410 (p > 0.05). However, significant differences in serum uric acid and systolic blood pressure were obtained among gout patients. Conclusion: Our results suggest that ABCG2 rs72552713 and SLC22A12 rs11231825 are likely associated with gout in the Vietnamese population in which T allele may be a risk factor for gout susceptibility.

scholarly journals Association between IFN-γ+874A/T and IFN-γR1 (-611A/G, +189T/G, and +95C/T) Gene Polymorphisms and Chronic Periodontitis in a Sample of Iranian Population

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Zahra Heidari ◽  
Hamidreza Mahmoudzadeh-Sagheb ◽  
Mohammad Hashemi ◽  
Somayeh Ansarimoghaddam ◽  
Bita Moudi ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Genetic Polymorphisms ◽  
Chronic Periodontitis ◽  
Gene Polymorphisms ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Pcr Rflp ◽  
And Control

Background. Interferon gamma (IFN-γ) is an immune regulatory cytokine that acts through its receptor and plays important role in progression of inflammatory disease such as chronic periodontitis (CP). The purpose of this study was to determine the differences in the distribution of IFN-γ(+874A/T) and IFN-γR1 (-611A/G, +189T/G, and +95C/T) gene polymorphisms among CP and healthy individuals and to investigate relationships between these polymorphisms and susceptibility to CP.Materials and Methods. 310 individuals were enrolled in the study including 210 CP patients and 100 healthy controls. Single nucleotide polymorphisms at IFN-γ(+874A/T) and IFN-γR1 (-611A/G, +189T/G, and +95C/T) were analyzed by ARMS-PCR and PCR-RFLP methods.Results. The significant difference was found in genotype and allele frequency of IFN-γ(+874A/T) gene polymorphism in chronic periodontitis patients and healthy controls. The distribution of genotypes and allele frequencies for IFN-γR1 (-611A/G, +189T/G, and +95C/T) were similar among the groups and no differences in the frequencies of alleles or genotypes of IFN-γR1 genetic polymorphisms variants between case and control groups were detected.Conclusion.The finding of this study showed that IFN-γ+874A/T gene polymorphism may affect susceptibility to CP, whereas IFN-γR1 genetic polymorphisms at -611A/G, +189T/G, and +95C/T were not associated with this disease.

scholarly journals Association between EFHD2 gene polymorphisms and schizophrenia among the Han population in northern China

2020 ◽  
Vol 48 (6) ◽  
pp. 030006052093280
Author(s):  
Meng Gao ◽  
Kuo Zeng ◽  
Ya Li ◽  
Yong-ping Liu ◽  
Xi Xia ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Neurodevelopmental Disorder ◽  
Haplotype Frequency ◽  
Northern China ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Gene Encoding ◽  
Frequency Distributions ◽  
And Control

Objective Schizophrenia is a severe neurodevelopmental disorder with a complex genetic and environmental etiology. The gene encoding EF-hand domain-containing protein D2 ( EFHD2) may be a genetic risk locus for schizophrenia. Methods We genotyped four EFHD2 single-nucleotide polymorphisms (281 schizophrenia cases [SCZ], 321 controls) from northern Chinese Han individuals using Sanger sequencing and polymerase chain reaction-restriction fragment length polymorphism analysis. Differences existed in genotype, allele, and haplotype frequency distributions between SCZ and control groups. Results The rs2473357 genotype and allele frequency distributions differed between SCZ and controls; however, this difference disappeared after Bonferroni correction. Differences in rs2473357 genotype and allele frequency distributions between SCZ and controls were more pronounced in men than in women. The G allele increased schizophrenia risk (odds ratio = 1.807, 95% confidence interval = 1.164–2.803). Among six haplotypes (G–, A–, G-insC, A-C, G-C, and G-T), the G– haplotype frequency distribution differed between SCZ and controls in women; the A-C and G-C haplotype frequency distributions differed between SCZ and controls in men. Conclusions EFHD2 may be involved in schizophrenia. Sex differences in EFHD2 genotype and allele frequency distributions existed among schizophrenia patients. Further research is needed to determine the role of EFHD2 in schizophrenia.

scholarly journals Perceptions of caregivers on immunization in Ntungamo district, Uganda

2021 ◽  
Vol 8 (12) ◽  
pp. 5729
Author(s):  
Byamukama Topher ◽  
Keraka M. Margaret ◽  
Gitonga Eliphas
Keyword(s):  
Risk Factor ◽  
Intervention Group ◽  
Cost Effective ◽  
Systematic Sampling ◽  
Control Group ◽  
Post Intervention ◽  
Mortality And Morbidity ◽  
Significant Difference ◽  
Quasi Experimental ◽  
And Control

Background: Immunization is one of the most cost-effective public health interventions to reduce child mortality and morbidity associated with infectious diseases. The objective of this study was to determine the perceptions of caregivers on immunization in Ntungamo district.Methods: Quasi-experimental study was used with health centres assigned to intervention and control groups. Purposive sampling was used to select the two counties where the study was done. Proportional sampling was done to get study samples from each health facility, while systematic sampling was done to get study participants. A total of 787 children from twelve health facilities provided the study sample. A post intervention evaluation was conducted to determine the effect of these interventions. Association of variables was tested using Mann Whitney U-test and Chi-square.Results: On benefits, most caregivers in the intervention group (85.3%) and in the control group (54.3%) regarded immunization as very highly and moderately beneficial to their children respectively. On risks, most caregivers in the intervention group (85.5%) and control group (43.1%) regarded the risk factor associated with immunization as very low and moderate respectively. From hypothesis testing, there was a significant difference on the perceived benefits and risks of immunization between the intervention and control group.Conclusions: Most caregivers in the intervention and control group regarded immunization as very highly beneficial and moderately to their children respectively. Most of the caregivers in the intervention and control group regarded the risk factor associated with immunization as very low and moderate respectively. 

scholarly journals Association of rs780094 polymorphism of glucokinase regulatory protein with non-alcoholic fatty liver disease

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Saba Mohammadi ◽  
Safar Farajnia ◽  
Masoud Shadmand ◽  
Fatemeh Mohseni ◽  
Roghayyeh Baghban
Keyword(s):  
Regulatory Protein ◽  
Single Nucleotide ◽  
Alcoholic Fatty Liver ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Study Population ◽  
Northwest Of Iran ◽  
And Control ◽  
The Relationship ◽  
Tabriz City

Abstract Objective GCK rs780094 polymorphism is a single nucleotide polymorphism that has been associated with obesity, type II diabetes and dyslipidemia in some populations, conditions that highly related to NAFL etiology. The present study aimed to evaluate the relationship between NAFLD and rs780094 polymorphism in patients with NAFLD in Tabriz city, northwest of Iran. The rs780094 polymorphism was determined in 74 patients with NAFLD by PCR–RFLP technique. Demographic information was collected using a questionnaire and biochemical analysis was performed using standard laboratory methods. Results There was a significant difference between case and control subjects for alanine aminotransferase, aspartate aminotransferase, HDL-C and triglycerides (P < 0.05). Analysis by PCR–RFLP method revealed that there were no significant differences between NAFLD and healthy subjects for rs780094 polymorphism in the study population. The results of this study indicated that rs780094 polymorphism is not associated with NAFLD in subjects from Tabriz city.

Association of SLCO1B1 and ABCB1 Genetic Variants with Atorvastatin-induced Myopathy in Patients with Acute Ischemic Stroke

2019 ◽  
Vol 25 (14) ◽  
pp. 1663-1670 ◽  
Author(s):  
Limin Zhang ◽  
Hong Lv ◽  
Qian Zhang ◽  
Dongzhi Wang ◽  
Xixiong Kang ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Acute Ischemic Stroke ◽  
Genetic Variants ◽  
Reference Laboratory ◽  
Nucleotide Polymorphisms ◽  
Significant Difference ◽  
Definition Of ◽  
Patients Experience ◽  
And Control ◽  
Mutant Frequency

Background:Certain patients experience muscle-related adverse effects after taking atorvastatin. Genetic factors play an important role in the occurrence of statin-induced myopathy.Aim:We aimed to identify genetic variants associated with statin-induced myotoxicity.Methods:We prospectively enrolled 1,102 acute ischemic stroke patients who underwent atorvastatin treatment for the first time after admission. Patients were separated into case and control groups after a follow-up of 3 months. We used a biochemical definition of myopathy consisting of serum creatine kinase values more than ten times the upper limit of normal for the reference laboratory (150 U/L). Fifty single nucleotide polymorphisms (SNPs) from seven genes of ABCB1, CoQ2, HTR3B, RYR2, CYP3A5, HTR7 and SLCO1B1 were selected and genotyped. The effects of genetic polymorphisms on myopathy were observed.Results:61 cases and 110 controls were recruited in the study. Compared with the controls, the cases had a significant higher mutant frequency of the allele A (ABCB1, rs2373588) (OR = 2.01, 95%CI = 1.10-3.67, P = 0.001) and a significant lower mutant frequency of the allele A (SLCO1B1, rs976754) (OR = 1.85, 95%CI = 1.12-3.03, P = 0.042). Genotypes or alleles of the other SNPs had no significant difference between the two groups (P > 0.05).Conclusion:Our findings reveal that SLCO1B1 and ABCB1 genetic variants are associated with statin-induced myopathy. These are valuable biomarkers for the evaluation of atorvastatin safety.

scholarly journals Evaluation of the Association between Programmed Cell Death-1 Gene Polymorphisms and Hepatocellular Carcinoma Susceptibility in Turkish Subjects. A Pilot Study

2020 ◽  
Author(s):  
Abdullah Fatih Demirci ◽  
Coskun Ozer Demirtas ◽  
Fatih Eren ◽  
Demet Yilmaz ◽  
Caglayan Keklikkiran ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Cell Death ◽  
Programmed Cell Death ◽  
Turkish Population ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Programmed Cell Death 1 ◽  
Significant Difference ◽  
And Control

Background and Aims: Programmed cell death-1 (PD-1) has a vital role in regulating T-cell function, and immune escape mechanism of cancer cells. It was shown that there could be a relationship between single nucleotide polymorphisms (SNPs) in the PD-1 gene and susceptibility to hepatocellular carcinoma (HCC) based on various studies. We aimed to investigate the role of three SNPs within the PD-1 gene in susceptibility to HCC in the Turkish population. Methods: Single nucleotide polymorphisms of PD-1.1, 1.5, and 1.6 were genotyped by using TaqMan Allelic Discrimination Assays in blood samples of 137 HCC and 136 control subjects, matched for age and gender. The genotype, allele and haplotype frequencies were compared in HCC and control groups using logistic regression analysis. Results: Genotype distributions of PD-1.1, PD-1.5 and PD-1.6 SNPs were in Hardy-Weinberg equilibrium. No significant difference was observed in the genotype distribution of PD-1.1, PD-1.5 and PD-1.6 polymorphisms among gender and age-matched HCC (M/F: 96/41; mean age: 61.4 ±11.7 years) and control group (M/F: 94/42; mean age: 61.4±10.1). In the haplotype analysis of PD-1.1/PD-1.5/PD-1.6, no significant difference was found among HCC and control group adjusted for sex and age (all p values>0.1). Conclusion: Our findings, firstly reporting the association of PD-1.5 polymorphism with HCC, and PD-1.1 and PD-1.6 with HCC in the Turkish population, suggest that PD-1 polymorphisms are not predisposing factors for HCC development. Future studies with larger sample sizes and different ethnic populations are required to validate our findings.

scholarly journals The rs13075270 and rs13092160 polymorphisms of CCR1 and CCR3 genes on oral aphthous-like lesions in PFAPA syndrome

2022 ◽  
Vol 67 (4) ◽  
pp. 328-333
Author(s):  
Weiwei Li ◽  
Na Li ◽  
Guohai Yang ◽  
Yanhua Li
Keyword(s):  
Periodic Fever ◽  
Common Symptom ◽  
Control Groups ◽  
Periodic Fever Syndromes ◽  
Cervical Adenitis ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Fever Syndromes ◽  
Pfapa Syndrome ◽  
And Control

Fever is a common symptom of infection in children. Periodic fever syndromes are less common but more complex. One of these Periodic fever syndromes is PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome which is known as the most benign syndromes. The cause of this disease is unknown. Various factors, including environmental and genetic factors, are involved in the development of this disease. In this study, the association of rs13075270 and rs13092160 polymorphisms were investigated in CCR1 and CCR3 genes with susceptibility to this syndrome in the Chinese population. In this regard, 38 patients with PFAPA syndrome and 100 healthy individuals were selected. After DNA sampling and extraction, polymorphisms of CCR1 and CCR3 receptor genes were examined by the PCR-RFLP method. Findings were analyzed using SPSS software version 22 with a significant level of P <0.05. The frequency of T/T genotype rs13092160 polymorphism in the patient and control groups was 78.95% and 83%, respectively, C/T genotype was 21.05% and 17% (P = 0.421). The frequency of the C/C genotype was 0 in both groups. Regarding rs13075270 polymorphism, the frequency of T/T genotype in patient and control groups was 15.79% and 81%, C/T genotype was 78.95% and 18% and C/C genotype was 5.26% and 1%, respectively (P<0.05). Thus, in rs13075270 polymorphism, the C/T genotype was associated with the risk of PFAPA syndrome (P<0.05), but rs13092160 polymorphism did not show a significant difference between individuals with PFAPA syndrome and controls.

scholarly journals Association of p53Pro72Arg (rs1042522) and MDM2309 (rs2279744) polymorphisms with risk for cervical intraepthelial lesions and cervical cancer development in Macedonian women

2016 ◽  
Vol 62 (2) ◽  
pp. 49-58
Author(s):  
Sotirija Duvlis ◽  
Marija Hiljadnikova Bajro ◽  
Dijana Plaseska Karanfilska
Keyword(s):  
Cervical Cancer ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Promoter Gene ◽  
The Republic ◽  
Cervical Cancer Development ◽  
Negative Controls ◽  
And Control ◽  
Intraepithelial Lesions

High risk Human Papillomavirus (HPV) is an important etiological factor in initiation of squamous intraepithelial lesions (SIL), but not enough for malignant progression to cervical cancer (CCa). Single nucleotide polymorphisms (SNPs): rs1042522 within the codon 72 of p53 and rs2279744 within MDM2 promoter gene are plausible factors for development of SIL or CCa conferring increased attenuation of p53 pathway. We investigated the association of these SNPs with the HPV positive SIL and CCa among women from the Republic of Macedonia. Using a multiplex PCR SNaPShot analysis we genotyped rs1042522 and rs2279744 in 131 HPV positive women with SIL or CCa and 110 HPV and cytologicaly negative controls subject. No significant difference in either genotype or allelic frequencies for rs1042522 and rs2279744 between cases and control was found. The stratification of patients on the basis of the lesion grade revealed lower frequency of CC genotype and C allele of rs1042522 in HSIL and CCa compared to LSIL [GG vs CC; p=0.001, OR=0.4; CG vs CC; p=0.04, OR=0.03 and CG+ GG vs CC; p=0.004, OR=0.2]. Additionally TT genotype and T allele of MDM2 309 showed significantly lower frequency in HSIL and CCa group then in LSIL [G vs T p=0.02, OR=0.52; GG vs TT; p=0.04, OR=0.29; ТТ vs ТG+GG; p=0.007, OR=0.34].The Arg variant of rs1042522 and T allele/TT genotype of rs2279744 are associated with progression to LSIL to HSIL or CCa and may be used as prediction markers in CCa management, but the clinical relevant warrants further validation in large and well-designed studies

scholarly journals Genetic polymorphisms of Vascular Endothelial Growth Factor (VEGF) associated with endometriosis in Nigerian women

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Ochuwa Adiketu Babah ◽  
Oyesola Oyewole Ojewunmi ◽  
Akinniyi Adediran Osuntoki ◽  
Melissa A. Simon ◽  
Bosede Bukola Afolabi
Keyword(s):  
Enzyme Linked Immunosorbent Assay ◽  
Vascular Endothelial ◽  
Nucleotide Polymorphisms ◽  
Nigerian Women ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
Elisa Technique ◽  
Genomic Dnas ◽  
And Control ◽  
Endothelial Growth Factor

Abstract Objective To determine if genetic polymorphism of VEGF is associated with the development of endometriosis in Nigerian women. Study design Case control study of 100 women (50 healthy controls and 50 with endometriosis). Serum VEGF concentration of participants were determined using enzyme-linked immunosorbent assay (ELISA) technique. Genomic DNAs were isolated from peripheral blood samples and quantified by nanodrop spectrophotometer one. Single nucleotide polymorphisms genotyping was carried out by polymerase chain reaction and restriction fragment length polymorphism (PCR–RFLP). Results Mean age of participants was 32.96 ± 6.91 years for control and 32.04 ± 7.56 years for cases. VEGF levels in case and control groups were not statistically different (82.68 pg/ml [69.11–121.11 pg/ml] vs. 82.81 pg/ml [72.90–113.82 pg/ml] respectively; p = 0.967). All four genotypes examined were in Hardy–Weinberg equilibrium. Minor allele frequency of − 460T > C, − 1154G > A, + 936C > T and + 2578C > A were 24%, 8%, 6% and 10% in the control and 19%, 9%, 5% and 14% in endometriosis patients. However, allele and genotype distributions of − 460T > C, − 1154G > A, + 936C > T and + 2578C > A VEGF polymorphisms in endometriosis patients and control were not significantly different (p > 0.05). Conclusion Our preliminary findings revealed no association between endometriosis and − 460T > C, − 1154G > A, + 936C > T and + 2578C > A of VEGF genes among Nigerian women.

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