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 ARG16GLY POLYMORPHISM IN THE Β2-ADRENOCEPTOR GENE IN PATIENTS WITH BRONCHIAL ASTHMA

2021 ◽  
Vol 74 (5) ◽  
pp. 1200-1203
Author(s):  
Vladyslava V. Kachkovska ◽  
Anna V. Kovchun ◽  
Iryna O. Moyseyenko ◽  
Iryna O. Dudchenko ◽  
Lyudmyla N. Prystupa
Keyword(s):  
Bronchial Asthma ◽  
Fragment Length Polymorphism ◽  
Control Group ◽  
Polymorphism Analysis ◽  
Healthy Individuals ◽  
Significant Difference ◽  
Polymorphic Variants ◽  
Polymerase Chain ◽  
Arg16gly Polymorphism ◽  
Apparently Healthy

The aim: The objective of the study was to analyze the frequency of Arg16Gly polymorphism in the β2 -adrenoceptor (β2 -АR) gene in patients with bronchial asthma (BA) and to assess the association of the polymorphism with BA risk. Materials and methods: We examined 553 BA patients and 95 apparently healthy individuals. Arg16Gly polymorphism in the β2 -АR gene (rs1042713) was determined using polymerase chain reaction-restriction fragment length polymorphism analysis. Statistical analysis of obtained results was performed using SPSS–17 program. Results: It was established that distribution of Arg/Arg, Arg/Gly, and Gly/Gly genotypes for Arg16Gly polymorphism in the β2 -АR gene was 44.2%, 40.0%, 15.8% in the control group vs. 31.3%; 45.7% and 23.0 among BA patients, respectively (χ2 = 6.59; р = 0.037). No significant difference was observed with regards to the distribution of genotypes for Arg16Gly polymorphism in the β2 -АR gene in men and women controls (χ2 = 4.05; р = 0.13) and BA patients (χ2 = 4.34; р = 0.11). BA risk was 1.74 times higher in the minor allele carriers (Arg/Gly + Gly/Gly genotypes) for Arg16Gly polymorphism in the β2 -АR gene. Conclusions: Analysis of Arg16Gly polymorphic variants in the β2-AR gene showed a statistically significant difference in the distribution of Arg/Arg, Arg/Gly, and Gly/Gly genotypes in patients with BA and apparently healthy individuals due to the higher frequency of Arg/Arg genotype in controls and higher frequency of Gly/Gly genotype in patients with asthma. No difference with regard to gender was found in the distribution of genotypes.

scholarly journals T300A GENETIC POLYMORPHISM: a susceptibility factor for Crohn’s disease?

2014 ◽  
Vol 51 (2) ◽  
pp. 97-101 ◽  
Author(s):  
Bruno Lorenzo SCOLARO ◽  
Emily dos SANTOS ◽  
Leslie Ecker FERREIRA ◽  
Paulo Henrique Condeixa de FRANÇA ◽  
Harry KLEINUBING ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Fragment Length Polymorphism ◽  
Control Group ◽  
Polymorphism Analysis ◽  
Inflammatory Disorder ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Increased Susceptibility

ContextCrohn’s disease is characterized by a chronic and debilitating inflammatory disorder of the gastrointestinal tract. Several factors may contribute to its development. From extensive studies of the human genome, the polymorphism T300A of the gene ATG16L1 (autophagy-related 16-like 1) has been related to increased risk of developing this disease.ObjectivesAnalyze the role of polymorphism T300A (rs2241880) in patients with Crohn’s disease.Methods238 samples from (control group) and 106 samples from patients with Crohn’s disease recruited at five Southern Brazilian reference centers were evaluated. The genotyping consisted of the amplification via Polymerase Chain Reaction of the genomic segment encompassing T300A, followed by Restriction Fragment Length Polymorphism analysis. The amplicons and fragments were separated by agarose gel electrophoresis and confirmed under ultraviolet light.ResultsThe genotype AG was more prevalent among patients and controls (50% vs 44.8%), followed by genotypes AA (26.4% vs 35.1%) and GG (23.6% vs 20.1%). The frequency of the allele G of the polymorphism T300A was higher in the group of patients with Crohn’s disease (48.6%) than in controls (42.4%), although not reaching statistical significance.ConclusionsIt was not possible to confirm the increased susceptibility on development of Crohn’s disease conferred by polymorphism T300A.

scholarly journals Association of the polymorphic marker Glu23Lys in the KCNJ11 gene with hypertension in Kyrgyz patients

2017 ◽  
Vol 89 (1) ◽  
pp. 14-17 ◽  
Author(s):  
Zh T Isakova ◽  
E T Talaibekova ◽  
D A Asambaeva ◽  
A S Kerimkulova ◽  
O S Lunegova ◽  
...  
Keyword(s):  
Fragment Length Polymorphism ◽  
Polymorphic Marker ◽  
Control Group ◽  
Polymorphism Analysis ◽  
Control Groups ◽  
Kcnj11 Gene ◽  
Polymerase Chain ◽  
And Control ◽  
Control Study ◽  
Apparently Healthy

Aim. To study the association of the polymorphic marker Glu23Lys in the KCNJ11 with the development of hypertension in Kyrgyz patients. Subjects and methods. This case-control study enrolled 214 unrelated ethnic Kyrgyzes, in which a study group included 152 hypertensive patients (82 men and 70 women) and a control group consisted of 109 apparently healthy individuals (61 men and 48 women). The examinees’ mean age was 55.2±10.1 years. Hypertension was verified when blood pressure (BP) was above 140/90 mm Hg. Polymerase chain reaction-restriction fragment length polymorphism analysis was used to identify the polymorphic marker Glu23Lys in the KCNJ11 gene. Results. In the hypertension and control groups, the prevalence of 3 genotypes (Glu23Glu, Glu23Lys, and Lys23Lys) of the Glu23Lys polymorphism in the KCNJ11 gene differed significantly (χ2=8.04; p=0.018). The Lys23Lys and Glu23Lys genotypes were statistically more frequently recorded in the hypertension group and the homozygous Glu23Glu genotype was, on the contrary, more common in the control group than in the study one. In the hypertension group, the 23Lys allele frequency was statistically significantly higher than that in the control one (χ2=7.36; p=0.0067). The carriage of the 23Lys allele increased the risk of hypertension by 1.68 times (odds ratio (OR), 1.68; 95% confidence interval (CI), 1.17—2.41), that of the Glu23 allele had, on the contrary, a protective effect (OR, 0.60; 95% CI, 0.41—0.86). Conclusion. The polymorphic marker Glu23Lys in the KCNJ11 gene is associated with hypertension in the Kyrgyzes. The 23Lys allele is a marker for the higher risk of hypertension.

scholarly journals Phytoplasma occurrence in apple trees in the Czech Republic

2011 ◽  
Vol 39 (No. 1) ◽  
pp. 7-12 ◽  
Author(s):  
R. Fialová ◽  
M. Navrátil ◽  
P. Válová
Keyword(s):  
Fragment Length Polymorphism ◽  
Rrna Gene ◽  
Polymorphism Analysis ◽  
Apple Proliferation ◽  
Chain Reaction ◽  
Apple Trees ◽  
The Czech Republic ◽  
High Incidence ◽  
Phytoplasma Infection ◽  
Polymerase Chain

The presence of phytoplasmas in apple trees with proliferation symptoms, rubbery wood symptoms and no symp­toms was determined by using polymerase chain reaction assays with primers amplifying phytoplasma 16S rRNA gene. Phytoplasmas were detected in all trees with proliferation symptoms. Positive tests for phytoplasma in the group of trees with rubbery wood symptoms and of those without symptoms revealed a relatively high incidence of latent phytoplasma infection. Using restriction fragment length polymorphism analysis, phytoplasma of the same identity – apple proliferation phytoplasma (subgroup 16SrX-A) – was recorded in all positively tested trees.  

scholarly journals DNA Repair Gene Polymorphism and the Risk of Mitral Chordae Tendineae Rupture

2015 ◽  
Vol 2015 ◽  
pp. 1-6
Author(s):  
Aysel Kalayci Yigin ◽  
Mehmet Bulent Vatan ◽  
Ramazan Akdemir ◽  
Muhammed Necati Murat Aksoy ◽  
Mehmet Akif Cakar ◽  
...  
Keyword(s):  
Dna Repair ◽  
Fragment Length Polymorphism ◽  
Control Group ◽  
Chordae Tendineae ◽  
Repair Gene ◽  
Repair Capacity ◽  
Dna Repair Capacity ◽  
Dna Repair Gene ◽  
Increased Risk ◽  
Polymerase Chain

Polymorphisms in Lys939Gln XPC gene may diminish DNA repair capacity, eventually increasing the risk of carcinogenesis. The aim of the present study was to evaluate the significance of polymorphism Lys939Gln in XPC gene in patients with mitral chordae tendinea rupture (MCTR). Twenty-one patients with MCTR and thirty-seven age and sex matched controls were enrolled in the study. Genotyping of XPC gene Lys939Gln polymorphism was carried out using polymerase chain reaction- (PCR-) restriction fragment length polymorphism (RFLP). The frequencies of the heterozygote genotype (Lys/Gln-AC) and homozygote genotype (Gln/Gln-CC) were significantly different in MCTR as compared to control group, respectively (52.4% versus 43.2%,p=0.049; 38.15% versus 16.2%,p=0.018). Homozygote variant (Gln/Gln) genotype was significantly associated with increased risk of MCTR (OR = 2.059; 95% CI: 1.097–3.863;p=0.018). Heterozygote variant (Lys/Gln) genotype was also highly significantly associated with increased risk of MCTR (OR = 1.489; 95% CI: 1.041–2.129;p=0.049). The variant allele C was found to be significantly associated with MCTR (OR = 1.481; 95% CI: 1.101–1.992;p=0.011). This study has demonstrated the association of XPC gene Lys939Gln polymorphism with MCTR, which is significantly associated with increased risk of MCTR.

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.

Sign in / Sign up

Export Citation Format

Share Document