scholarly journals Association of MMP-2 (–1306 C/T) Gene Polymorphism with Predisposition to Optic Neuritis and Optic Neuritis Together with Multiple Sclerosis

Medicina ◽  
2018 ◽  
Vol 54 (2) ◽  
pp. 29 ◽  
Author(s):  
Rasa Liutkevičienė ◽  
Alvita Vilkevičiūtė ◽  
Mantas Banevičus ◽  
Raminta Miežytė ◽  
Loresa Kriaučiūnienė
Keyword(s):  
Multiple Sclerosis ◽  
Gene Polymorphism ◽  
Optic Neuritis ◽  
Vision Loss ◽  
Matrix Metalloproteinase 2 ◽  
Control Group ◽  
Autoimmune Inflammatory Disease ◽  
Pcr Method ◽  
Polymerase Chain ◽  
The Relationship

Background and objective: Optic neuritis (ON) is characterized by painful, usually monocular vision loss with decreased visual acuity and defects of the visual field and color vision. The etiology and pathophysiology of ON is not completely clear. It is thought that a matrix metalloproteinase 2 (MMP-2) gene plays an essential role in this autoimmune inflammatory disease. The aim of this study was to determine the relationship between the MMP-2 (-1306 C/T) rs243865 gene polymorphism and ON, and that of ON with multiple sclerosis. Materials and methods: Patients with ON/ON and multiple sclerosis and a control group of healthy individuals were enrolled in this study. The genotyping test of the MMP-2 (-1306 C/T) was carried out using a real-time polymerase chain reaction (PCR) method. Results: Analysis revealed that T allele at the MMP-2 (-1306 C/T) was less frequent in the ON group compared to the control group (14.5% vs. 23.3%, p = 0.031), and was associated with decreased likelihood of ON development (OR = 0.566; 95% CI: 0.333-0.962; p = 0.036). No significant associations were revealed while comparing the subgroups of ON patients with and without multiple sclerosis. Conclusion: The MMP-2 (-1306 C/T) gene polymorphism was found to be associated with ON development.

scholarly journals Frequency of HLA-DRB1 Gene Alleles in Patients With Multiple Sclerosis in a Lithuanian Population

Medicina ◽  
2012 ◽  
Vol 48 (1) ◽  
pp. 2
Author(s):  
Renata Balnytė ◽  
Daiva Rastenytė ◽  
Dalia Mickevičienė ◽  
Antanas Vaitkus ◽  
Erika Skrodenienė ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Case Control Study ◽  
Case Control ◽  
Chain Reaction ◽  
Female Patients ◽  
History Of ◽  
Male Patients ◽  
Polymerase Chain ◽  
The Relationship ◽  
Control Study

The aim of the present study was to investigate the influence of HLA-DRB1 alleles on the genetic susceptibility to multiple sclerosis in the Lithuanian population. Material and Methods. A total of 120 patients with multiple sclerosis and 120 unrelated healthy controls were enrolled in this case-control study. Allelic frequencies were compared between the groups. HLA-DRB1 alleles were genotyped using the polymerase chain reaction. Results. HLA-DRB1*15 was present in 55.8% of the patients with multiple sclerosis and 10.0% of the controls (OR, 5.58; 95% CI, 3.19–9.77; P<0.0001). The protective alleles that were found to be more prevalent among the controls compared with the patients with multiple sclerosis were HLADRB1* 01 (26.7% vs. 7.5%, P<0.0001), *03 (17.5% vs. 8.3%, P=0.034), and *16 (11.7% vs. 3.3%, P=0.014). HLA-DRB1*15 was more common among the female patients with multiple sclerosis than among the male patients (68.4% vs. 34.1%; OR, 4.18; 95%, CI 1.90–9.22; P=0.001). The heterozygous inheritance of HLA-DRB1*15 allele was more common in the patients with a history of maternal multiple sclerosis than in those with a history of paternal multiple sclerosis (29.4% vs. 9.8%; P=0.045). Conclusions. HLA-DRB1*15 was found to be associated with multiple sclerosis in the Lithuanian population. This allele was more prevalent among the female patients with multiple sclerosis. Maternal multiple sclerosis was more common than paternal multiple sclerosis, but the relationship with HLA-DRB1*15 allele was not established. HLA-DRB1*01, *03, and *16 appeared to be the protective alleles in this series.

Treatment with azathioprine and cyclic methylprednisolone has little or no effect on bioactivity in anti-interferon beta antibody-positive patients with multiple sclerosis

2009 ◽  
Vol 15 (3) ◽  
pp. 323-328 ◽  
Author(s):  
M Ravnborg ◽  
K Bendtzen ◽  
O Christensen ◽  
PEH Jensen ◽  
D Hesse ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Neutralizing Antibodies ◽  
Primary Outcome ◽  
Protein A ◽  
Control Group ◽  
Interferon Β ◽  
Gene Assay ◽  
Resistance Protein ◽  
Polymerase Chain

Background It is unknown whether immunosuppression of patients who have developed interferon-β (IFN-β) neutralizing antibodies (NAbs) hastens disappearance of NAbs in the blood. Objective We wanted to test whether immunosuppression with cyclic methylprednisolone (MP) in combination with azathioprine (AZA) for 6 months accelerates recovery of IFN-β bioactivity in patients with multiple sclerosis (MS) with abolished in-vivo myxovirus resistance protein A (MxA) mRNA response to IFN-β. Methods We included 13 patients with MS with NAbs and a low IFN-β bioavailability detected by the MxA-mRNA response in a descriptive, non-randomized trial. Another 14 NAb-positive patients with a low MxA-mRNA response served as controls. The primary outcome was the fraction of patients who regained an MxA-mRNA response to IFN-β. NAbs were measured by means of a clinically validated cytopathic effect assay and a new reporter gene assay. The in-vivo MxA-mRNA response was measured by real-time polymerase chain reaction. Results A total of 11 patients in the treatment group completed the trial. In all, two of these 11 patients regained an in-vivo MxA-mRNA response as compared to one of 14 patients in the control group. Conclusion Treatment with AZA and cyclic MP for 6 months has little or no effect on IFN-β bioactivity in NAb-positive patients with MS.

Fellow eye changes in optic neuritis correlate with the risk of multiple sclerosis

2009 ◽  
Vol 15 (8) ◽  
pp. 928-932 ◽  
Author(s):  
A Klistorner ◽  
H Arvind ◽  
T Nguyen ◽  
R Garrick ◽  
M Paine ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Optic Neuritis ◽  
Prognostic Significance ◽  
Cns Inflammation ◽  
Multifocal Visual Evoked Potential ◽  
Fellow Eye ◽  
Normal Appearing White Matter ◽  
The Status ◽  
The Relationship ◽  
Fellow Eyes

Background Recent studies demonstrate early diffuse central nervous system (CNS) inflammation in patients with multiple sclerosis (MS). The clinically unaffected (fellow) eye of patients with unilateral optic neuritis (ON) may reflect the status of normal-appearing white matter in the CNS, which can be assessed electrophysiologically. Objective To study the relationship between electrophysiological parameters in the fellow eye of ON patients, and risk of conversion to MS. Methods Forty-eight consecutive patients with acute unilateral ON were examined 12 months after ON of which 14 had MS, 19 remained high risk (HR) for MS, and 15 had low risk (LR) for MS according to McDonald’s criteria. Twenty-five age-matched controls were also tested. Amplitude and latency of multifocal visual evoked potential (mfVEP) in the fellow eyes of patients at 12 months were analyzed and compared with controls. Results Average mfVEP amplitude was 240 ± 35, 232 ± 36, 181 ± 38, and 169 ± 48 nV for controls, LR, HR, and MS groups respectively. Average mfVEP latency for controls, LR, HR, and MS patients was 139.7 ± 5.5, 141.7 ± 3.6, 145.9 ± 8.9, and 152.0 ± 9.9 ms respectively. Conclusions The magnitude of latency prolongation and amplitude decline 12 months after the initial episode was proportional to the risk of MS. The prognostic significance of these changes as predictors of subsequent MS should be investigated longitudinally.

TNF-α and intPLA2 genes' polymorphism in anorexia nervosa

2004 ◽  
Vol 16 (6) ◽  
pp. 290-294 ◽  
Author(s):  
Agnieszka Slopien ◽  
Filip Rybakowski ◽  
Monika Dmitrzak-Weglarz ◽  
Piotr Czerski ◽  
Joanna Hauser ◽  
...  
Keyword(s):  
Anorexia Nervosa ◽  
Gene Polymorphism ◽  
Control Group ◽  
Study Group ◽  
Intron 1 ◽  
Tnf Α ◽  
The Mean ◽  
Polymerase Chain ◽  
And Control ◽  
Necrosis Factor

Objective:The aim of this study was the assessment of −308G/A tumor necrosis factor (TNF)-α gene polymorphism and intPLA2 gene polymorphism in patients with anorexia nervosa (AN) and healthy controls.Subjects:We studied 91 non-related patients with AN and 144 healthy women (blood donors and students). The mean age of women from study group was 18.22 years (SD ± 3.13 years) and from control group was 31.71 years (SD ± 8.22).Methods:Gene polymorphisms were studied with the use of polymerase chain reaction-restriction fragment length polymorphism method. TNF-α gene polymorphism consists of G/A substitution in −308 promoter region. IntPLA2 gene polymorphism is related to intron 1, in which restrictive region is found and recognized by BanI enzyme.Results:We did not obtain statistically significant differences in the frequency of genotypes and alleles of −308G/A TNF-α polymorphism between the study and control groups (genotypes: P = 0.106, alleles: P = 0.076). We did analogous analysis in the restrictive and bulimic subgroups. We did not observe statistically relevant differences in the frequency of genotypes (P = 0.700) and alleles (P = 0.305). We did not obtain statistically relevant difference in the frequency of genotypes and alleles of intPLA2 gene between the study group and controls (genotypes: P = 0.300, alleles: P = 0.331). We did analogous analysis in both subgroups of AN. We did not observe statistically relevant differences in the frequency of genotypes (P = 0.344) and alleles (P = 0.230).Conclusions:There was no statistically relevant trend for the association between TNF-α polymorphism and AN. We did not find association between studied polymorphism of intPLA2 gene and risk of AN.

scholarly journals The relationship between HLA-DRB1 alleles and optic neuritis in Irish patients and the risk of developing multiple sclerosis

2007 ◽  
Vol 91 (10) ◽  
pp. 1288-1292 ◽  
Author(s):  
I. Tuwir ◽  
C. Dunne ◽  
J. Crowley ◽  
T. Saddik ◽  
R. Murphy ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Optic Neuritis ◽  
The Relationship

ICOS Gene Polymorphism May Be Associated with Pemphigus

2010 ◽  
Vol 14 (6) ◽  
pp. 291-297 ◽  
Author(s):  
Joanna Narbutt ◽  
Aleksandra Lesiak ◽  
Izabela Klich ◽  
Jolanta Dorota Torzecka ◽  
Anna Sysa-Jedrzejowska ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Pemphigus Vulgaris ◽  
Control Group ◽  
Pemphigus Foliaceus ◽  
Autoimmune Blistering Disease ◽  
Genes Encoding ◽  
Blistering Disease ◽  
Ctla4 Gene ◽  
Genetically Determined ◽  
The Relationship

Background: Pemphigus is an autoimmune blistering disease mediated by circulating IgG autoantibodies directed against desmogleins 3 and/or 1. As pemphigus is a T cell–mediated disease, one may assume that genetically determined disregulation of costimulatory signal may be involved in its pathogenesis. Objective: The aim of the present study was to evaluate the relationship between polymorphisms in genes encoding costimulatory receptors, CTLA4 and ICOS, and pemphigus in the Polish population. Methods: The study included 54 patients with pemphigus: 40 with pemphigus vulgaris (PV) and 14 with pemphigus foliaceus (PF). Additionally, 176 healthy unrelated blood donors served as controls. +49A/G CTLA4 and IVS1+173 ICOS polymorphisms were identified using a modified polymerase chain reaction–restriction fragment-length polymorphism. Results: Analysis of the frequency of genotypes and alleles of +49A/G CTLA4 gene polymorphism showed no statistically significant differences between the PV and PF patients and the controls. The distribution of genotypes in IVS1+173 ICOS polymorphisms was significantly different in both PV ( p < .01) and PF ( p = .0004) patients when compared to controls. The carriers of the allele C were more frequent in PV or PF in comparison with the control group ( p < .001 for both groups). Conclusions: Our results suggest that genetically determined abnormal function of costimulatory receptors in T cells may be associated with the pathogenesis of pemphigus.

scholarly journals The combined effect of nuclear and mitochondrial genomes on the risk of developing multiple sclerosis

2020 ◽  
Vol 12 (1S) ◽  
pp. 15-19
Author(s):  
M. S. Kozin ◽  
I. S. Kiselev ◽  
A. N. Boyko ◽  
O. G. Kulakova ◽  
O. O. Favorova
Keyword(s):  
Multiple Sclerosis ◽  
Fragment Length Polymorphism ◽  
Mitochondrial Genomes ◽  
Control Group ◽  
Polymorphism Analysis ◽  
Protective Properties ◽  
Autoimmune Inflammation ◽  
Nuclear Component ◽  
Polymerase Chain ◽  
Nuclear Genomes

Multiple sclerosis (MS) is a severe chronic CNS disease characterized by autoimmune inflammation, demyelination, and neurodegeneration. The interaction of mitochondrial and nuclear genomes is shown to be important in the formation of a predisposition to many diseases.Objective: to analyze the association of MS with the carriage of biallelic combinations, including as components the polymorphisms of three genes of mitochondrial DNA (mtDNA) and those of 16 nuclear genes, the products of which are involved in the functioning of the immune system and may participate in the development of autoimmune inflammation in MS; and, if these combinations are identified, to determine the nature of an interaction between their components. Patients and methods. The investigation enrolled 540 MS patients and 406 control group individuals; all were Russians. The mitochondrial genome was genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis. APSampler software was used for multilocus association analysis. Results and discussion. The investigators identified five biallelic combinations that were associated with MS (p=0.0036–0.022) and possessed protective properties (odds ratio (OR) 0.67–0.75). The mitochondrial component of the identified combinations was the polymorphisms m.4580 (rs28357975), m.13368 (rs3899498), and m.13708 (rs28359178) mtDNA; the nuclear component was CXCR5 (rs523604), TNFRSF1A (rs1800693), and CD86 (rs2255214) gene polymorphisms. The interaction between the components of the identified combinations was additive. Conclusion. The data obtained in the Russian population suggest that the combined contribution of the mitochondrial and nuclear genomes may affect the risk of developing MS.

scholarly journals Relationship between Superoxide Dismutase Manganese Gene Polymorphism and Eye Tumors

2021 ◽  
Vol 9 (A) ◽  
pp. 229-232
Author(s):  
Rodiah Rahmawaty Lubis ◽  
Cut Adeya Adella ◽  
Lokot Donna Lubis
Keyword(s):  
Superoxide Dismutase ◽  
Gene Polymorphism ◽  
Gene Polymorphisms ◽  
Cancer Biology ◽  
Orbital Tumor ◽  
Control Group ◽  
Orbital Tumors ◽  
The Impact ◽  
The Relationship ◽  
Mnsod Gene

ABSTRACT   Background: Orbital tumor in Indonesia is one of the eye health problems that can cause blindness. The impact caused by orbital tumors on patients is quite large because it can result in blindness and even death due to its metastatic nature. The role that SOD plays in cancer biology is not well understood, most studies showing a more oxidative state, characterized by increased intracellular ROS, particularly superoxide. Objective: To determine the relationship between Manganese Superoxide Dismutase (SOD2) gene polymorphisms and the incidence of orbital tumors in Medan. Methods: This study is an analytic observational study with a cross-sectional data collection method using controls. Comparisons were made between the control group and the observed group to see the relationship between SOD2 polymorphisms and the risk of orbital tumor incidence in Medan. The ophthalmic examination, anterior and posterior segments, and assessment of CT orbit if deemed necessary for the orbital tumor patients. Histopathological examination was done by the Pathologist. Blood samples was taken for polymorphism examination on extracted DNA using the Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) methods. Results: About 30 patients that met the inclusion criterias. Laterality, the left eye is more likely to suffer from tumors when compared to the right eye. This study found as many as 16 patients, while malignant tumors was 14 patients. There was a relationship between the MnSOD gene polymorphism and the incidence of orbital tumors (p <0.001), there was a relationship between the MnSOD gene polymorphism and the incidence of orbital tumors in the female sex (p <0.001) Conclusion: There was a relationship between MnSOD gene polymorphisms and the incidence of orbital tumors (p <0.001)

scholarly journals Polymorphisms of CYP2E1 rs2031920 is not Associated with Risk of Nasopharyngeal Carcinoma in Minangkabau Ethnic Group

2019 ◽  
Vol 7 (20) ◽  
pp. 3387-3390
Author(s):  
Sukri Rahman ◽  
Eti Yerizel ◽  
Daan Khambri ◽  
Djong Hon Tjong
Keyword(s):  
Nasopharyngeal Carcinoma ◽  
Gene Polymorphism ◽  
Ethnic Group ◽  
Control Group ◽  
Salted Fish ◽  
Cyp2e1 Gene ◽  
Carcinogenic Substances ◽  
And Control ◽  
The Relationship ◽  
Volatile Nitrosamines

BACKGROUND: Various environmental factors have been suspected to be associated with the risk of developing Nasopharyngeal Carcinoma (NPC). Volatile nitrosamines found in salted fish are thought to be carcinogenic substances for NPC. Nitrosamines are activated by the CYP2E1 enzyme. Several studies investigated the relationship between polymorphism in the CYP2E1 gene and susceptibility to NPC, but the results obtained were inconsistent. AIM: This study was conducted to analyse the association of the CYP2E1 rs2031920 polymorphisms with the incidence of NPC in the Minangkabau ethnic group. METHODS: The subjects of this study were newly diagnosed NPC Minangkabau ethnic patients, while the controls were healthy people.  A total of 23 cases of NPC and 23 aged (± 3 years) and sex-matched controls participated in the study. The method used to identify these polymorphisms is PCR sequencing. RESULTS: On recent study, we found CYP2E1 rs2031920 gene polymorphism in both the NPC and control groups, in the NPC group there were 8.7% heterozygote mutants while in the control group there were 26.1% heterozygote mutants, and there were no homozygote mutants in the two groups, and statistically none a significant relationship between CYP2E1 gene polymorphism and the incidence of NPC, with p > 0.05. CONCLUSION: Our study reveals that there is no association of CYP2E1 gene polymorphism (rs2031920) with the incidence of nasopharyngeal carcinoma in the Minangkabau ethnic group.

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