Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Assessment of IL-7RA T244I Polymorphism as a Risk Factor of Multiple Sclerosis in Turkish Population.

ABSTRACT:

Introduction

The T244I variant of the IL-7RA gene, rs6897932, is one of the first polymorphisms found to be associated with the development of multiple sclerosis (MS). Although several studies provided evidence for the association of MS and this variant, other studies could not confirm this result. These inconsistent results suggest that the role of this polymorphism in the development of disease is associated with ethnicity.

Methods

We investigated rs6897932 polymorphisms in a large cohort of patients with MS and healthy controls in a turkish population.

Results

In our study, there were no significant differences in genotype frequencies in the IL-7RA rs6897932 polymorphism and no significant difference between C and T alleles in patients with MS and controls.

Conclusion

This study is the first to evaluate the risk of the rs6897932 polymorphism in turkish patients with MS.

SUBMITTER: Unsal MA

PROVIDER: S-EPMC7735144 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Assessment of IL-7RA T244I Polymorphism as a Risk Factor of Multiple Sclerosis in Turkish Population.

Ünsal Miraç Aysen MA Manukyan Nüket Yıldız NY IŞik Nihal N Dİreskenelİ Güher Saruhan GS

Noro psikiyatri arsivi 20190826 4

<h4>Introduction</h4>The T244I variant of the IL-7RA gene, rs6897932, is one of the first polymorphisms found to be associated with the development of multiple sclerosis (MS). Although several studies provided evidence for the association of MS and this variant, other studies could not confirm this result. These inconsistent results suggest that the role of this polymorphism in the development of disease is associated with ethnicity.<h4>Methods</h4>We investigated rs6897932 polymorphisms in a la ...[more]

PMID: 33354118

Similar Datasets

Relationship between asthma and IL-17 gene polymorphism in a Turkish population.

Project description:Asthma is a prevalent chronic obstructive disease of the airways. The aim of our study was to investigate the relationship between asthma and IL-17F gene 74488 T > C, IL-17A gene -197G > A, and IL17A gene -737C > T polymorphisms in Turkish population. In our study, peripheral blood samples collected from a total of 127 subjects, with 65 in the patient group and 62 in the control group, were analyzed for IL-17F gene 74488 T > C, IL-17A gene -197G > A, and IL17A gene -737C > T polymorphisms using next-generation sequencing. There was no statistically significant relationship between IL-17A gene -197G > A and IL-17A gene -737C > T polymorphisms and the risk of developing asthma. It was found that the risk of developing asthma was 2.9-fold higher in individuals with a C allele in the IL-17F gene 7488 T > C polymorphic site than the individuals with a T allele. It was shown that ATT and GCT haplotype carriers had a greater disease risk compared with the GTT haplotype carriers. In conclusion, IL-17F gene 7488 T > C polymorphism was found to be associated with asthma in the Turkish population. The IL-17 gene should be further investigated as a potential candidate gene in predicting asthma susceptibility and in the treatment of asthma.

| S-EPMC8942807 | biostudies-literature

Tumor necrosis factor-alpha polymorphism and susceptibility to multiple sclerosis in the Iranian population.

Project description:BackgroundMultiple sclerosis (MS) is an immune-mediated disease of polygenic etiology. Tumor necrosis factor-α (TNF-α) microsatellite as a proinflammatory cytokine is believed to play an important role in the etiology of this disease.ObjectivesThe aim of this study was to investigate the association of TNF-α microsatellite sequence variation in patients with MS and its risk factor in the southern Iranian population.Patients and methodsThis polymorphism was investigated in an Iranian population of 163 native southern people [81 patients with MS according to the poser criteria and 82 healthy controls (HC) with the same age, sex, social, ethnical and geographical features (Hormozgan and Fars provinces)]. All the controls were nonimmunological, neurological patients. All the cases and controls were chosen randomly and genotyped for polymorphism of TNF-α microsatellite.ResultsThe frequencies of TNF-α*11 (0.25, P < 0.005) and TNF-α*10 (P < 0.005) alleles increased in patients with MS compared with controls, showing a significant difference among the studied population.ConclusionsThe current study adds evidence to the association of TNF-α gene polymorphism and MS in this southern south Iranian population which is consistent with the genetic analysis of MS in Europeans (GAMES) project reports and these two alleles reported in this study may be one of the genetic risk factor for MS. Furthermore, this data can be used to build the Iranian gene bank for future studies.

| S-EPMC4341370 | biostudies-literature

The FOXP3 rs3761547 Gene Polymorphism in Multiple Sclerosis as a Male-Specific Risk Factor.

Project description:The FOXP3 gene encodes a transcription factor and is predominantly expressed in the CD4+CD25+ regulatory T cells which plays a pivotal role in the maintenance of immune homeostasis. The defect of FOXP3 gene may provide a critical link between autoimmunity and immune deficiency. The purpose of our study was to evaluate the association of chosen polymorphisms of FOXP3 gene (rs3761549, rs3761548, rs3761547) with different clinical multiple sclerosis (MS) data of our relapsing-remitting groups of patients and in control group. The study was performed on a group consisting of 174 relapsing-remitting MS patients, diagnosed under 40 years of life, and 174 healthy volunteers. Genotyping was performed using a real-time PCR-based method by TaqMan Assays. Significant differences in distribution of allele C rs3761547 were found in male MS patients in comparison to the male healthy group (p = 0.046, OR 1.95, CI 95%). No association between MS and the other two polymorphisms was observed in males and females of both studied groups. Our data may suggest that FOXP3 rs3761547 gene polymorphism are related notably with the increased risk of MS development in males patients. To our knowledge this is the first study which indicates gender-specific relation between rs3761547 FOXP3 gene polymorphism and multiple sclerosis.

| S-EPMC6244921 | biostudies-literature

Vitamin D Receptor Polymorphisms Among the Turkish Population are Associated with Multiple Sclerosis.

Project description:Multiple sclerosis (MS) is an inflammatory disease characterized by demyelination and axonal degeneration affecting the central nervous system. Among the genetic factors suggested to be associated with this disease are polymorphisms to the vitamin D receptor (VDR) gene. We tested the hypothesis that polymorphisms in the vitamin D receptor (VDR) gene are associated with MS. The aim of the study was to investigate the relationship of MS with the VDR gene Fok-I, Bsm-I and Taq-I polymorphisms among the Turkish population. This study contains 271 MS patients and 203 healthy controls. Genomic DNA was isolated from the samples and the VDR gene Fok-I, Bsm-I and Taq-I polymorphism regions were amplified by polymerase chain reaction (PCR). The PCR products were digested, and the genotypes were determined based on size of digested PCR products. Our results demonstrate associations between MS and the distribution of the VDR gene Fok-I T/T polymorphism genotype in a dominant model, VDR gene Fok-I T allele frequency, distribution of VDR gene Taq-I C/C polymorphism genotype in a dominant model and VDR gene Taq-I C allele frequency (Pearson test, p<0.05). However, there was no association between MS and the VDR gene Bsm-I polymorphisms for the genotype distribution (Pearson test, p>0.05) or allele frequency (Pearson test, p>0.05). Fok-I and Taq-I VDR gene polymorphisms are significantly associated with MS in dominant, homozygote and heterozygote inheritance models among the Turkish population.

| S-EPMC9985364 | biostudies-literature

Multiple sclerosis susceptibility may be associated with the coding rs20541 (R130Q) IL-13 gene polymorphism in the Polish population

Project description: Not available

| S-EPMC10716410 | biostudies-literature

Significant Association of the MDM2 T309G Polymorphism with Breast Cancer Risk in a Turkish Population

Project description:Background: Breast cancer is a leading cause of death in women worldwide. Genetic polymorphisms have been

| S-EPMC6031795 | biostudies-literature

DNMT3B-579G>T (rs1569686G>T) polymorphism and the risk of multiple sclerosis in a subset of Iranian population.

Project description:Background: Deoxyribonucleic acid (DNA) methyltransferase 3 beta (DNMT3B) gene encodes an MT enzyme involving in de novo methylation of DNA. The present investigation aimed to explore the association of DNMT3B-579G>T (rs1569686) polymorphism with multiple sclerosis (MS). Methods: 130 Iranian patients with MS and 130 controls were genotyped for the DNMT3B-579G>T using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: There was no statistically significant association between DNMT3B-579G>T and susceptibility to MS. The alleles and genotypes of DNMT3B-579G>T did not have different risks of MS development under various models [T vs. G (P = 0.86); GTvs. GG (P = 0.48); TT vs. GG (P > 0.99); GT+TT vs. GG (P = 0.60), and TT vs. GG+GT (P = 0.87)]. Also, there was no statistically significant association between genotypes and clinical and demographic characteristics of patients (P > 0.05). Conclusion: The current findings suggest that DNMT3B-579G>T is probably not a crucial potential risk marker in molecular diagnostics of MS among Iranian. However, to the best of our knowledge, this is the ﬁrst genetic association study about the DNMT3B polymorphisms and MS. Therefore, further surveys should be included to estimate the exact relevance of DNMT3B gene to the development of autoimmune disorders like MS.

| S-EPMC6755508 | biostudies-literature

CD6 gene polymorphism rs17824933 is associated with multiple sclerosis in Indian population.

Project description:BackgroundMultiple sclerosis (MS) prevalence has increased worldwide. The known genetic association for MS in the west has not been studied in detail in nonwhite populations and particularly Indians.ObjectiveThe objective of this study was to evaluate some known genetic variations outside the major histocompatibility complex (MHC) region associated with MS in patients of Indian origin.Materials and methodsWe investigated 10 gene-associated single nucleotide polymorphisms (SNP's) outside the MHC region in 300 patients and 720 unrelated controls. Genotyping was performed on an ABI7500 real-time polymerase chain reaction genotyping platform using predesigned TaqMan SNP genotyping assays.ResultsCD6 gene associated SNP (rs17824933) showed significant association with MS (P = 4.2 × 10-5, odds ratio [OR] = 2.24, confidence interval (CI) = 1.51-3.33). A modest association was also noted for TMEM39A rs1132200 (P = 0.023, OR = 1.41, CI = 1.05-1.91) and IL2RA rs2104286 (P = 0.04, OR = 1.3, CI = 1.006-1.67). In the remaining SNPs, the allele frequencies were overexpressed in patients when compared to healthy controls.ConclusionOur data illustrate the similarity in risk association between Indian and European populations for MS.

| S-EPMC5144471 | biostudies-literature

Quantitative benefit-risk assessment of methylprednisolone in multiple sclerosis relapses.

Project description:BackgroundHigh-dose short-term methylprednisolone is the recommended treatment in the management of multiple sclerosis relapses, although it has been suggested that lower doses may be equally effective. Also, glucocorticoids are associated with multiple and often dose-dependent adverse effects. This quantitative benefit-risk assessment compares high- and low-dose methylprednisolone (at least 2000 mg and less than 1000 mg, respectively, during at most 31 days) and a no treatment alternative, with the aim of determining which regimen, if any, is preferable in multiple sclerosis relapses.MethodsAn overall framework of probabilistic decision analysis was applied, combining data from different sources. Effectiveness as well as risk of non-serious adverse effects were estimated from published clinical trials. However, as these trials recorded very few serious adverse effects, risk intervals for the latter were derived from individual case reports together with a range of plausible distributions. Probabilistic modelling driven by logically implied or clinically well motivated qualitative relations was used to derive utility distributions.ResultsLow-dose methylprednisolone was not a supported option in this assessment; there was, however, only limited data available for this treatment alternative. High-dose methylprednisolone and the no treatment alternative interchanged as most preferred, contingent on the risk distributions applied for serious adverse effects, the assumed level of risk aversiveness in the patient population, and the relapse severity.ConclusionsThe data presently available do not support a change of current treatment recommendations. There are strong incentives for further clinical research to reduce the uncertainty surrounding the effectiveness and the risks associated with methylprednisolone in multiple sclerosis relapses; this would enable better informed and more precise treatment recommendations in the future.

| S-EPMC4609048 | biostudies-literature

IL-10 rs1800896 Polymorphism: A Risk Factor for Adult Acute Lymphoblastic Leukemia.

Project description:PurposeSingle-nucleotide polymorphism (SNP) in the promoter region of the IL-10 gene can increase susceptibility to tumor development. The current study aimed to explore the genotypic frequency of interleukin-10 (IL-10) rs1800896 polymorphism in newly diagnosed adult patients with acute lymphoblastic leukemia (ALL) and validate whether this SNP is a risk factor for adult ALL.Patients and methodsThis case-control study was based on a subset of newly diagnosed 154 adult patients with ALL recruited from the Radiation and Isotope Center in Khartoum (RICK) and 154 healthy controls from the same geographical area. Genomic DNA was used for the genotyping of rs1800896 polymorphism through allele-specific polymerase chain reaction (PCR) assays.ResultsThe genotypic frequencies of rs1800896 showed a statistically significant association of AG and AA genotypes with adult ALL (p<0.001). Combined genotypes AG+GG vs AA also showed a positive association of rs1800896 with adult ALL (OR=4.89). The allelic frequencies of G and A did not show any significant difference in adult patients with ALL compared with the control group. AG rs1800896 genotype showed an increased risk of B and T ALL (OR=2.51 and 4.70, respectively). Age at diagnosis, gender, and immunophenotype (B vs T ALL) did not exhibit any association of rs1800896 with ALL in this patient group.Conclusionrs1800896 polymorphism is associated with an increased risk of ALL in adult patients irrespective of the age at diagnosis, gender, and immunophenotype of ALL.

| S-EPMC9480578 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data