F.21. A Single Nucleotide Polymorphism within the Interleukin-7 Receptor Alpha Promoter Influences Recent Thymic Emigrants in Multiple Sclerosis

2009 ◽  
Vol 131 ◽  
pp. S99-S100
Author(s):  
Bieke Broux ◽  
Niels Hellings ◽  
Koen Venken ◽  
Bart Van Wijmeersch ◽  
P. Stinissen
2010 ◽  
Vol 16 (5) ◽  
pp. 533-536 ◽  
Author(s):  
Aleksandra Stanković ◽  
Evica Dinčić ◽  
Smiljana Ristić ◽  
Luca Lovrečić ◽  
Nada Starčević Cizmarević ◽  
...  

The interleukin 7 receptor alpha single nucleotide polymorphism rs6897932 was identified as a multiple sclerosis susceptibility-modifying polymorphism in genome-wide and gene scan studies, mainly in populations in western countries. The aim of this study was to investigate the association of interleukin 7 receptor alpha rs6897932 with multiple sclerosis in populations from the Western Balkans: Serbia, Croatia, and Slovenia. A total of 678 unrelated white patients and 597 unrelated, ethnically matched healthy controls were included in the study. Genotyping was performed by real-time polymerase chain reaction. We found no significant difference in genotype or allele frequencies between controls and patients with multiple sclerosis either separately in Serbian, Croatian, and Slovenian populations or in the whole sample from the Western Balkans. The odds ratio for multiple sclerosis in this study was 1.04 (0.86—1.25) for the C allele. It is known that demographic as well as environmental factors have a substantial role in multiple sclerosis development, as well as population genetic background. The results of this study indicate that other types of genome variants should be required for the development and/or progression of multiple sclerosis, which may vary among populations.


2010 ◽  
Vol 16 (11) ◽  
pp. 1303-1307 ◽  
Author(s):  
Naghmeh Jafari ◽  
Linda Broer ◽  
Ilse A Hoppenbrouwers ◽  
Cornelia M van Duijn ◽  
Rogier Q Hintzen

Background: Multiple sclerosis is a presumed autoimmune disease associated with genetic and environmental risk factors such as infectious mononucleosis. Recent research has shown infectious mononucleosis to be associated with a specific HLA class I polymorphism. Objectives: Our aim was to test if the infectious mononucleosis-linked HLA class I single nucleotide polymorphism (rs6457110) is also associated with multiple sclerosis. Methods: Genotyping of the HLA-A single nucleotide polymorphism rs6457110 using TaqMan was performed in 591 multiple sclerosis cases and 600 controls. The association of multiple sclerosis with the HLA-A single nucleotide polymorphism was tested using logistic regression adjusted for age, sex and HLA-DRB1*1501. Results: HLA-A minor allele (A) is associated with multiple sclerosis (OR = 0.68; p = 4.08 × 10 -5). After stratification for HLA-DRB1*1501 risk allele (T) carrier we showed a significant OR of 0.70 ( p = 0.003) for HLA-A. Conclusions: HLA class I single nucleotide polymorphism rs6457110 is associated with infectious mononucleosis and multiple sclerosis, independent of the major class II allele, supporting the hypothesis that shared genetics may contribute to the association between infectious mononucleosis and multiple sclerosis.


2010 ◽  
Vol 16 (8) ◽  
pp. 981-984 ◽  
Author(s):  
Marcelo Matiello ◽  
Janet Schaefer-Klein ◽  
Doralina G Brum ◽  
Elizabeth J Atkinson ◽  
Orhun H Kantarci ◽  
...  

Background: Association of the HLA-DRB1*1501 allele with multiple sclerosis is well established, but its association with neuromyelitis optica has only been evaluated in small populations. Methods: We performed a case-control genetic association study to evaluate the association of HLA-DRB1*1501 with neuromyelitis optica. The single nucleotide polymorphism rs3135388, which tags HLA-DRB1*1501, was genotyped in 164 patients with neuromyelitis optica, 220 patients with multiple sclerosis and 959 controls matched for age, gender and ethnicity. Genotyping for rs3135388 was performed by Taqman-based 5' nuclease assay. Results: Rs3135388*A was positively associated with multiple sclerosis (OR = 3.93; 95% CI = 2.58—5.97, p = 1.18 × 10-09) but negatively associated with NMO (OR = 0.57; 95% CI = 0.36—0.91, p = 0.01). Conclusions: Multiple sclerosis and neuromyelitis optica differ in their associations with DRB1*1501.


2019 ◽  
Vol 34 (5) ◽  
pp. 1415-1419 ◽  
Author(s):  
Rezvan Noroozi ◽  
Iman Azari ◽  
Mohammad Taheri ◽  
Mir Davood Omrani ◽  
Soudeh Ghafouri-Fard

2006 ◽  
Vol 12 (4) ◽  
pp. 511-514 ◽  
Author(s):  
D Otaegui ◽  
A Sáenz ◽  
P Camaño ◽  
L Blázquez ◽  
M Goicoechea ◽  
...  

The allele C in the CD24 gene has been related to multiple sclerosis (MS). In this work we check this single nucleotide polymorphism (SNP) in a population of 135 patients and 285 controls. Our results confirm the association between the V/V genotype at aa 57 of this gene and MS and highlight the importance of taking into account the origin of the subjects to avoid a population bias.


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