IL2RA Gene Polymorphism rs2104286 A>G Seen in Multiple Sclerosis Is Associated with Intermediate Uveitis: Possible Parallel Pathways?

2011 ◽  
Vol 52 (11) ◽  
pp. 8295 ◽  
Author(s):  
Ewald Lindner ◽  
Martin Weger ◽  
Gernot Steinwender ◽  
Antonia Griesbacher ◽  
Ursula Posch ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Gene Polymorphism ◽  
Intermediate Uveitis ◽  
Parallel Pathways

scholarly journals Analysis of a Functional IL-6 Gene Polymorphism in HLAB27 Associated and Intermediate Uveitis Gives New Insight in Disease Pathogenesis and Commonality with Other Autoimmune Diseases

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Lindner Ewald ◽  
Langner-Wegscheider Beate ◽  
Sarny Stephanie ◽  
Renner Wilfried ◽  
El-Shabrawi Yosuf
Keyword(s):  
Multiple Sclerosis ◽  
Gene Polymorphism ◽  
Autoimmune Diseases ◽  
Case Control Study ◽  
Minor Allele ◽  
Genotype Distribution ◽  
Intermediate Uveitis ◽  
Polymerase Chain ◽  
Control Study ◽  
Positive Controls

Purpose. Interleukin 6 (IL-6) plays a crucial role in both adaptive and innate immunity. The rs1800795 gene polymorphism of IL-6 is associated with various autoimmune diseases, like multiple sclerosis.Methods. 134 patients with HLAB27 positive iridocyclitis, 84 patients with intermediate uveitis, 132 controls, and 65 HLAB27 positive controls were recruited for the present case-control study. Main outcome measures were genotype distribution and allelic frequencies determined by polymerase chain reaction.Results. The frequency of carriers of the minor allele for rs1800795 was significantly higher in patients with intermediate uveitis compared to controls (p=0.04; OR: 1.46; CI: 1.02–2.11). Frequencies of the minor allele for rs1800795 did not differ significantly in patients with HLAB27 associated uveitis when compared to controls (p>0.05).Conclusion. These findings further deepen our understanding of the commonality between multiple sclerosis and intermediate uveitis. Given the functionality of the investigated polymorphism, new pathophysiological insights are gained that help to evaluate possible therapeutic targets.

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.

Interleukin 18 gene polymorphism is a risk factor for multiple sclerosis

2014 ◽  
Vol 41 (3) ◽  
pp. 1653-1658 ◽  
Author(s):  
Sevim Karakas Celik ◽  
Zehra Safi Öz ◽  
Ahmet Dursun ◽  
Aysun Unal ◽  
Ufuk Emre ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Risk Factor ◽  
Gene Polymorphism ◽  
Interleukin 18

Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles

2000 ◽  
Vol 177 (1) ◽  
pp. 65-71 ◽  
Author(s):  
Masaaki Niino ◽  
Toshiyuki Fukazawa ◽  
Ichiro Yabe ◽  
Seiji Kikuchi ◽  
Hidenao Sasaki ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Vitamin D ◽  
Gene Polymorphism ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Class Ii ◽  
Hla Class Ii ◽  
Vitamin D Receptor Gene ◽  
Receptor Gene Polymorphism ◽  
Hla Class Ii Alleles

scholarly journals Association of CD58 polymorphism and multiple sclerosis in Malaysia: a pilot study

2019 ◽  
Vol 10 (1) ◽  
Author(s):  
Yee Ming Ching ◽  
Shanthi Viswanathan ◽  
Nurhanani Mohamed Nor ◽  
Shuwahida Shuib ◽  
Balqis Kamarudin ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Pilot Study ◽  
Gene Polymorphism ◽  
Age Of Onset ◽  
Nucleotide Polymorphisms ◽  
Healthy Individuals ◽  
Disease Manifestation ◽  
Southeast Asians ◽  
Multiple Sclerosis Patients ◽  
The Impact

Abstract Background Multiple sclerosis is an immune mediated disease targeting the central nervous system. Association of non-human leukocyte antigen gene, CD58, with multiple sclerosis has been reported in several populations but is unclear among Southeast Asians. This pilot study was conducted to explore the association between CD58 polymorphism and multiple sclerosis among the Malay population in Malaysia. Methods Blood samples were collected from 27 multiple sclerosis patients, and compared with 58 age- and gender matched healthy individuals. All patients were tested negative for anti-aquaporin 4. DNA was extracted from the blood and genotyped for 3 single nucleotide polymorphisms rs12044852, rs2300747 and rs1335532 of gene CD58 by real-time PCR. Results The majority of multiple sclerosis patients were female (85.2%). The general mean age of onset was 30.5 years. Genotyping results showed that frequencies of the alleles were between 40 and 50% for MS patients and healthy individuals. Association (allelic model) between multiple sclerosis and CD58 gene polymorphism alleles rs12044852 (p = 0.410), rs2300747 (p = 0.881) and rs1335532 (p = 0.407) were indistinct. Conclusions The impact of the CD58 gene polymorphism was not prominent in this pilot study, implying that genetic composition contributing to multiple sclerosis may be different between different populations, thus results in a heterogeneity of disease manifestation and distribution.

CD25 gene polymorphism and multiple sclerosis

2017 ◽  
Vol 18 ◽  
pp. 117-118 ◽  
Author(s):  
Fereshteh Alsahebfosoul ◽  
Rasoul Salehi ◽  
Sara Ghaffari ◽  
Hamidreza Jahanbani-Ardakani ◽  
Masoud Etemadifar ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Gene Polymorphism
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