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 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.

Mo1291 The Role of Tissue Tuberculosis Polymerase Chain Reaction for Diagnosis of Crohn's Disease in Taiwan

2016 ◽  
Vol 150 (4) ◽  
pp. S689
Author(s):  
Chia-Jung Kuo ◽  
Cheng-Yu Lin ◽  
Cheng-Tang Chiu ◽  
Ming-Yao Su ◽  
Wey-Ran Lin
Keyword(s):  
Polymerase Chain Reaction ◽  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Chain Reaction ◽  
Polymerase Chain

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 Familial Association between Coeliac Disease and Ulcerative Colitis: Preliminary Communication

1986 ◽  
Vol 79 (4) ◽  
pp. 204-205 ◽  
Author(s):  
J F Mayberry ◽  
H L Smart ◽  
P J Toghill
Keyword(s):  
Ulcerative Colitis ◽  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Coeliac Disease ◽  
Family Members ◽  
First Degree Relatives ◽  
Increased Risk ◽  
Familial Association ◽  
Preliminary Communication

One hundred and twenty patients who were members of the Nottinghamshire Coeliac Group completed a questionnaire about the occurrence of coeliac disease, ulcerative colitis and Crohn's disease amongst first-degree relatives. Siblings were at a 20-fold risk of developing coeliac disease and a 15-fold risk of developing ulcerative colitis, and significantly increased risks for these two conditions were also seen in other family members. The relatives of patients with coeliac disease are at increased risk not only of developing coeliac disease but also ulcerative colitis. This provides further support for a possible role of a dietary allergen in the development of ulcerative colitis.

scholarly journals Role of matrix metalloproteases 1/3 gene polymorphisms in patients with rotator cuff tear

2019 ◽  
Vol 39 (10) ◽  
Author(s):  
Kaisong Miao ◽  
Lifeng Jiang ◽  
Xindie Zhou ◽  
Lidong Wu ◽  
Yong Huang ◽  
...  
Keyword(s):  
Rotator Cuff ◽  
Rotator Cuff Tear ◽  
Fragment Length Polymorphism ◽  
Direct Sequencing ◽  
Matrix Metalloproteases ◽  
Chain Reaction ◽  
Cuff Tear ◽  
Increased Risk ◽  
Polymerase Chain

Abstract An association of Matrix Metalloproteinases-1/3 (MMP-1/3) rs1799750/rs3025058 polymorphism with increased risk of rotator cuff tear (RCT) has been reported in a Brazilian population. However, this significant association has not been confirmed in the Chinese population. Genotyping was conducted by polymerase chain reaction (PCR)-restriction fragment length polymorphism and direct sequencing. Our results demonstrated that individuals with the TT genotype had a significantly higher risk of RCT compared with those with the CC genotype. The increased risk of RCT progression was associated with the 2G allele of the rs1799750 polymorphism. No significant association was observed for genotypic and allelic frequencies of the rs3025058 polymorphism. A significant association of the MMP-1 rs1799750 polymorphism was observed with smokers, drinkers and people aged ≥60 years and non-diabetic people. Additionally, the MMP-1 rs1799750 polymorphism was associated with pre-operative stiffness in RCT patients. In conclusion, a significant correlation was identified between the MMP-1 rs1799750 polymorphism and RCT. The MMP-1 rs1799750 polymorphism might be considered as a biomarker of genetically high-risk RCT, helping to clarify the mechanism of RCT.

scholarly journals The role of enteroclysis and roentgen anatomy of jejunum and ileumin Crohn's disease

2005 ◽  
Vol 58 (9-10) ◽  
pp. 437-443
Author(s):  
Dragan Krivokuca ◽  
Djordjije Saranovic ◽  
Milivoje Vukovic ◽  
Laslo Puskas ◽  
Gordana Stankovic ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Gastrointestinal Symptom ◽  
Morphological Changes ◽  
Healthy People ◽  
Control Group ◽  
Study Group ◽  
Double Contrast ◽  
Mucosal Folds

Introduction The aims of this research were: I) to establish the value ofen-teroclysis in detection of morphological changes of jejunum and ileum in cases with suspected Crohn's disease and 2) to establish types of morphological changes of jejunum and ileum in patients with Crohn's disease. Material and methods The study compared two groups of people who voluntarily accepted to be examined: a control group and a study group. The control group included 11 healthy people, without gastrointestinal symptom. The study group included 16 patients with Crohn's disease. Single and double-contrast enteroclysis were performed in both groups. Afterwards, we defined parameters which were compared in these groups. Conclusions We concluded that according to statistics there are significantly lower values of the width of the jejunal and Heal lumen and the number of mucosa/folds (per I cm) of the jejunal and Heal wall in the examined group in contrast to the control group. Also, according to statistics there are significantly higher values of the width of the jejunal and ileal wall and the thickness of mucosal folds of the jejunum and ileum in the study group in contrast to the control group.

scholarly journals A Hypothesis for Explaining the Geographical Distribution of Crohn’s Disease

1996 ◽  
Vol 10 (3) ◽  
pp. 173-177 ◽  
Author(s):  
Cyrus P Tamboli
Keyword(s):  
Polymerase Chain Reaction ◽  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Geographical Distribution ◽  
Environmental Influence ◽  
Molecular Techniques ◽  
Epidemiological Evidence ◽  
Chain Reaction ◽  
Polymerase Chain

The etiology of Crohn’s disease (CD) remains unknown, although there is epidemiological evidence supporting an environmental influence. Recent molecular techniques, including polymerase chain reaction, have renewed interest in a possible etiological role ofMycobacterium paratuberculosis, which has been isolated from a number of CD patients. The organism causes a chronic enteritis in animals called paratuberculosis, a condition with many clinical and pathological similarities to CD. This review compares the epidemiology of paratuberculosis in animals with the epidemiology of CD in humans. There is considerable overlap of regions with high prevalences of paratuberculosis and CD. This finding adds support to the implication ofM paratuberculosisin the etiology of CD.

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