scholarly journals HLA-DPB1*03 as Risk Allele and HLA-DPB1*04 as Protective Allele for Both Early- and Adult-Onset Multiple Sclerosis in a Hellenic Cohort

2020 ◽  
Vol 10 (6) ◽  
pp. 374 ◽  
Author(s):  
Maria Anagnostouli ◽  
Artemios Artemiadis ◽  
Maria Gontika ◽  
Charalampos Skarlis ◽  
Nikolaos Markoglou ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Allele Frequency ◽  
Risk Allele ◽  
Laboratory Data ◽  
Protective Role ◽  
Adult Onset ◽  
Protective Allele ◽  
Hla Dr ◽  
Hla Dq

Background: Human Leucocyte Antigens (HLA) represent the genetic loci most strongly linked to Multiple Sclerosis (MS). Apart from HLA-DR and HLA–DQ, HLA-DP alleles have been previously studied regarding their role in MS pathogenesis, but to a much lesser extent. Our objective was to investigate the risk/resistance influence of HLA-DPB1 alleles in Hellenic patients with early- and adult-onset MS (EOMS/AOMS), and possible associations with the HLA-DRB1*15:01 risk allele. Methods: One hundred MS-patients (28 EOMS, 72 AOMS) fulfilling the McDonald-2010 criteria were enrolled. HLA genotyping was performed with standard low-resolution Sequence-Specific Oligonucleotide techniques. Demographics, clinical and laboratory data were statistically processed using well-defined parametric and nonparametric methods and the SPSSv22.0 software. Results: No significant HLA-DPB1 differences were found between EOMS and AOMS patients for 23 distinct HLA-DPB1 and 12 HLA-DRB1 alleles. The HLA-DPB1*03 allele frequency was found to be significantly increased, and the HLA-DPB1*02 allele frequency significantly decreased, in AOMS patients compared to controls. The HLA-DPB1*04 allele was to be found significantly decreased in AOMS and EOMS patients compared to controls. Conclusions: Our study supports the previously reported risk susceptibility role of the HLA-DPB1*03 allele in AOMS among Caucasians. Additionally, we report for the first time a protective role of the HLA-DPB1*04 allele among Hellenic patients with both EOMS and AOMS.

The protective role of Langerhans’ cells and sunlight in multiple sclerosis

2000 ◽  
Vol 55 (6) ◽  
pp. 517-520 ◽  
Author(s):  
M. Dumas ◽  
M.O. Jauberteau-Marchan
Keyword(s):  
Multiple Sclerosis ◽  
Langerhans Cells ◽  
Protective Role

Multiple sclerosis and solar exposure before the age of 15 years: case—control study in Cuba, Martinique and Sicily

2010 ◽  
Vol 16 (8) ◽  
pp. 899-908 ◽  
Author(s):  
F. Dalmay ◽  
D. Bhalla ◽  
A. Nicoletti ◽  
JA Cabrera-Gomez ◽  
P. Cabre ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Case Control Study ◽  
Sun Exposure ◽  
Protective Role ◽  
Case Control ◽  
Solar Exposure ◽  
History Of ◽  
Water Sports ◽  
Control Study

Few studies report a protective role of childhood solar exposure to multiple sclerosis. Our objective was to confirm the protective role of childhood solar exposure in multiple sclerosis in Cuba, Martinique and Sicily. This was a matched case— control study, and cases met Poser criteria for clinically, laboratory (definite, probable) multiple sclerosis. Controls were resident population, without neurological disorder, living close to cases (within 100 km), matched for sex, age (±5 years), residence before age 15. We recruited 551 subjects during a 1-year period (193 cases, Cuba n = 95, Sicily n = 50, Martinique n = 48; 358 controls). Some (89%) met definite clinical multiple sclerosis criteria (relapsing remitting form (with and without sequel) (74%), secondary progressive (21%), primary progressive (5%)). Odds ratios in a uni-variate analysis were: family history of multiple sclerosis (5.1) and autoimmune disorder (4.0); wearing shirt (3.5), hat (2.7), pants (2.4); sun exposure causing sunburn (1.8); sun exposure duration (1 h more/day; weekends 0.91, weekdays 0.86); bare-chested (0.6); water sports (0.2). Independent factors in the multivariate analysis were family history of multiple sclerosis (4.8 (1.50—15.10)), wearing pants under sunlight (1.9 (1.10—3.20)), sun exposure duration (1 h more/ day, weekdays 0.90 (0.85—0.98), weekends 0.93 (0.87—0.99)), water sports (0.23 (0.13—0.40)). We conclude that outdoor leisure activities in addition to sun exposure reports are associated with a reduced multiple sclerosis risk, with evidence of dose response.

The HLA-DQ(α1*0102, β1*0602) heterodimer may confer susceptibility to multiple sclerosis in the absence of the HLA-DR(α1*01, β1*1501) heterodimer

1997 ◽  
Vol 50 (1) ◽  
pp. 15-22 ◽  
Author(s):  
A. Spurkland ◽  
E. G. Celius ◽  
I. Knutsen ◽  
A. Belske ◽  
E. Thorsby ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Hla Dr ◽  
Hla Dq

scholarly journals Gender Differences in Vogt-Koyanagi-Harada Disease and Sympathetic Ophthalmia

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Yujuan Wang ◽  
Chi-Chao Chan
Keyword(s):  
Protective Role ◽  
Sympathetic Ophthalmia ◽  
Female Dominance ◽  
Ocular Injury ◽  
Granulomatous Uveitis ◽  
Hla Dr ◽  
Hla Dq ◽  
Male Patients ◽  
Males And Females ◽  
Worse Prognosis

Vogt-Koyanagi-Harada disease (VKH) and sympathetic ophthalmia (SO) are types of T-cell mediated autoimmune granulomatous uveitis. Although the two diseases share common clinical features, they have certain differences in gender predilections. VKH classically has been reported as more prevalent in females than males, yet some studies in Japan and China have not found differences in gender prevalence. Male patients have a higher risk of chorioretinal degeneration, vitiligo, and worse prognosis. Conversely, the changing levels of estrogen/progesterone during pregnancy and the menstrual cycle as well as higher levels of TGF-βshow a protective role in females. Potential causes of female predilection for VKH are associated with HLA-DR and HLA-DQ alleles. SO, a bilateral granulomatous uveitis, occurs in the context of one eye after a penetrating injury due to trauma or surgery. In contrast to the female dominance in VKH, males are more frequently affected by SO due to a higher incidence of ocular injury, especially during wartime. However, no gender predilection of SO has been reported in postsurgical cases. No clinically different manifestations are revealed between males and females in SO secondary to either ocular trauma or surgery. The potential causes of the gender difference may provide hints on future treatment and disease evaluation.

scholarly journals Regulatory role of local tissue signal Del-1 in cancer and inflammation: a review

2021 ◽  
Vol 26 (1) ◽  
Author(s):  
Meng Li ◽  
Di Zhong ◽  
Guozhong Li
Keyword(s):  
Multiple Sclerosis ◽  
Bone Marrow ◽  
Protective Role ◽  
Regulatory Role ◽  
Cancer Microenvironment ◽  
Local Tissue ◽  
Domain Protein ◽  
And Migration ◽  
Cancer And Inflammation

AbstractDevelopmental endothelial locus-1 (Del-1) is a secretory, multifunctional domain protein. It can bind to integrins and phosphatidylserine. As a local tissue signal, it plays a regulatory role in the cancer microenvironment and inflammation. Del-1 has destructive effects in most cancers and is associated with the progression and invasion of some cancers. In contrast, Del-1 also plays a protective role in inflammation. Del-1 regulates inflammation by regulating the generation of neutrophils in bone marrow, inhibiting the recruitment and migration of neutrophils and accelerating the clearance of neutrophils by macrophages. Del-1 and IL-17 are reciprocally regulated, and their balance maintains immune system homeostasis. Del-1 is expected to become a new therapeutic target for inflammatory disorders such as multiple sclerosis.

scholarly journals The protective role of TBX21-1514T>C polymorphism in susceptibility to multiple sclerosis

2019 ◽  
Author(s):  
Fatemeh Akbarian ◽  
Mitra Ataei ◽  
Zivar Salehi ◽  
Masoud Nabavi ◽  
Mohammad Hossein Sanati
Keyword(s):  
Multiple Sclerosis ◽  
Protective Effect ◽  
Strong Association ◽  
Single Strand Conformation Polymorphism ◽  
Protective Role ◽  
Allelic Frequency ◽  
Single Strand ◽  
Genotype Frequencies ◽  
Tbx21 Gene

Background: As a T-cell mediated disease, multiple sclerosis (MS) pathogenesis might be associated with the immune system and its involved genes. TBX21, which encodes T-bet transcription factor, is a critical regulator of the commitment to the Th1 lineage and Interferon gamma (IFNγ) production. Investigation of the association of -1514T > C polymorphism located upstream of TBX21 gene with MS susceptibility is reasonable due to its demonstrated significant association with some other immune-mediated diseases. Methods: We analyzed the genotype frequencies of -1514T > C polymorphism between 248 Iranian patients with MS and 163 matched healthy controls. By applying polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)- technique, the single-strand conformation patterns of the amplicons were compared and sequenced. Results: Strong association between the wild -1514T allele and MS susceptibility was found with the allelic frequency of 99.6% in patients vs. 95.1% in controls (P = 0.002), and the CC genotype frequency of the TBX21 polymorphism (-1514T > C) reported potential protective effect against the disease (P = 0.014). Conclusion: The TBX21-1514T > C polymorphism confers possible protective effect on MS in Iranian population. Further comprehensive studies in different settings are required to clarify the exact role of TBX21 gene in MS disease.

Cell-specific effects in different immune subsets associated with SOCS1 genotypes in multiple sclerosis

2015 ◽  
Vol 21 (12) ◽  
pp. 1498-1512 ◽  
Author(s):  
Aitzkoa Lopez de Lapuente ◽  
María Jesús Pinto-Medel ◽  
Ianire Astobiza ◽  
Iraide Alloza ◽  
Manuel Comabella ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Flow Cytometry ◽  
Mrna Expression ◽  
Cell Function ◽  
Nucleotide Polymorphisms ◽  
Protective Allele ◽  
Cell Percentage ◽  
Specific Effects ◽  
Hla Dr ◽  
A Cell

Background: Single nucleotide polymorphisms (SNPs) near SOCS1 are associated with multiple sclerosis (MS), but the most important SNPs in the area and mechanisms by which they influence the disease are unknown. Methods: A haplotype-tagging association study was performed covering 60.5kbp around SOCS1, and the index SNP was validated in a total of 2292 individuals. mRNA expression of SOCS1 and nearby genes was measured in MS patients with different disease courses and healthy controls. SOCS1 protein expression was studied by flow cytometry in a separate cohort of patients and controls. Differentiation and maturation of monocyte-derived dendritic cells (moDCs) were also studied. Results: One SNP, rs423674, reached genome-wide significance. No genotype-specific mRNA expression differences were seen, but, by flow cytometry, significant interactions were observed between genotypes for rs423674 and disease activity (relapse or remission) in B cells and regulatory T cells. Furthermore, homozygotes for the risk allele (GG) showed higher levels of CD1a and CD86 than carriers of the protective allele (GT) in immature moDCs and a greater increase of HLA-DR+ cell percentage than GT heterozygotes upon maturation. Conclusions: rs423674, or its genetic proxies, may influence MS risk by modulating SOCS1 expression in a cell-specific manner and by influencing dendritic cell function.

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