Association of HLA-DRB1∗14, -DRB1∗16 and -DQB1∗05 with MuSK-myasthenia gravis in patients from Turkey

Alahgholi-Hajibehzad, Mahdi; Yılmaz, Vuslat; Gülşen-Parman, Yeşim; Aysal, Fikret; Oflazer, Piraye; Deymeer, Feza; Saruhan‐Direskeneli, Güher

doi:10.1016/j.humimm.2013.08.271

Cited by 46 publications

(32 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The Italian population is reported to be genetically different from the mentioned European populations, but similar to populations from other Mediterranean countries including Turkey [24]. Previous studies on other diseases including our study on MuSK-MG have emphasized the similar genetic backgrounds of Mediterranean populations [30], [31], [32], [33]. The heterogeneity in the samples selected for the studies from Italy and from Turkey may account for this difference [24].…”

Section: Discussionsupporting

confidence: 52%

The Association of PTPN22 R620W Polymorphism Is Stronger with Late-Onset AChR-Myasthenia Gravis in Turkey

et al. 2014

Self Cite

View full text Add to dashboard Cite

A functional single nucleotide polymorphism (SNP) of the PTPN22 gene encoding a protein tyrosine phosphatase has been associated with autoimmune disorders including myasthenia gravis (MG). As the PTPN22 R620W polymorphism has a wide variation of allele frequencies among different populations, this polymorphism was investigated in MG in Turkey. An emphasis is put on MG subgroups according to autoantibody (Abs) production and presence of thymoma. DNA samples from 416 patients with clinically diagnosed generalized MG (231 with Abs to acetylcholine receptor, AChR-MG), 53 with Abs to muscle-specific kinase (MuSK-MG), 55 patients with no detectable Abs (SN-MG), 77 patients with thymoma (TAMG) and 293 healthy controls (HC) were genotyped for the SNP (PTPN22 R620W, C1858T, rs2476601). The PTPN22 T allele was increased in AChR-MG patients (odds ratio [OR]: 2.5, 95%CI: 1.2–5.1). The association was stronger in late disease-onset AChR (LOMG, OR: 3.1, 95%CI: 1.2–8.2). MuSK-MG, SN-MG and TAMG groups did not carry the variant allele more frequently than the HC. In contrast to findings in other autoimmune diseases, the distribution of the PTPN22 polymorphism in this population provides a susceptibility marker for AChR-MG. The strongest association is detected in patients with LOMG.

show abstract

Section: Discussionsupporting

confidence: 52%

The Association of PTPN22 R620W Polymorphism Is Stronger with Late-Onset AChR-Myasthenia Gravis in Turkey

et al. 2014

Self Cite

View full text Add to dashboard Cite

show abstract

“…Our data also show a trend towards a cumulative protective effect of the HLA-DR3/DQ2 combination (p=0.06). Concerning the involvement of HLA-DQ5 in immune mediated diseases, few data exist [44, 45]. To the best of our knowledge, this is the first study implicating the HLA-DQ5 allele in RBC-alloimmunization.…”

Section: Discussionmentioning

confidence: 96%

Protective effect of HLA-DQB1 alleles against alloimmunization in patients with sickle cell disease

et al. 2016

View full text Add to dashboard Cite

Background Alloimmunization or the development of alloantibodies to Red Blood Cell (RBC) antigens is considered one of the major complications after RBC transfusions in patients with sickle cell disease (SCD) and can lead to both acute and delayed hemolytic reactions. It has been suggested that polymorphisms in HLA genes, may play a role in alloimmunization. We conducted a retrospective study analyzing the influence of HLA-DRB1 and DQB1 genetic diversity on RBC-alloimmunization. Study design Two-hundred four multi-transfused SCD patients with and without RBC-alloimmunization were typed at low/medium resolution by PCR-SSO, using IMGT-HLA Database. HLA-DRB1 and DQB1 allele frequencies were analyzed using logistic regression models, and global p-value was calculated using multiple logistic regression. Results While only trends towards associations between HLA-DR diversity and alloimmunization were observed, analysis of HLA-DQ showed that HLA-DQ2 (p=0.02), -DQ3 (p=0.02) and -DQ5 (p=0.01) alleles were significantly higher in non-alloimmunized patients, likely behaving as protective alleles. In addition, multiple logistic regression analysis showed both HLA-DQ2/6 (p=0.01) and HLA-DQ5/5 (p=0.03) combinations constitute additional predictor of protective status. Conclusion Our data suggest that particular HLA-DQ alleles influence the clinical course of RBC transfusion in patients with SCD, which could pave the way towards predictive strategies.

show abstract

“…The disease has the highest prevalence below the age of 40 years and mainly affects young women [1,3]. In MuSK MG there is an association with the human leukocyte antigen (HLA) DR14-DQ5 haplotype [5][6][7]. In MuSK MG there is an association with the human leukocyte antigen (HLA) DR14-DQ5 haplotype [5][6][7].…”

Section: Myasthenia Gravis With Musk Antibodiesmentioning

confidence: 99%

The expanding field of IgG4‐mediated neurological autoimmune disorders

Huijbers

Querol

Niks

et al. 2015

Euro J of Neurology

152

172

View full text Add to dashboard Cite

At least 13 different disease entities affecting the central nervous system, peripheral nervous system and connective tissue of the skin or kidneys are associated with immunoglobulin G4 (IgG4) immune reactivity. IgG4 has always been considered a benign, non-inflammatory subclass of IgG, in contrast to the well-known complement-activating pro-inflammatory IgG1 subclass. A comprehensive review of these IgG4 autoimmune disorders reveals striking similarities in epitope binding and human leukocyte antigen (HLA) associations. Mechanical interference of extracellular ligand-receptor interactions by the associated IgG4 antibodies seems to be the common/converging disease mechanism in these disorders.

show abstract

Association of HLA-DRB1∗14, -DRB1∗16 and -DQB1∗05 with MuSK-myasthenia gravis in patients from Turkey

Cited by 46 publications

References 11 publications

The Association of PTPN22 R620W Polymorphism Is Stronger with Late-Onset AChR-Myasthenia Gravis in Turkey

The Association of PTPN22 R620W Polymorphism Is Stronger with Late-Onset AChR-Myasthenia Gravis in Turkey

Protective effect of HLA-DQB1 alleles against alloimmunization in patients with sickle cell disease

The expanding field of IgG4‐mediated neurological autoimmune disorders

Contact Info

Product

Resources

About