Linkage disequilibrium with HLA-DRB1-DQB1 haplotypes explains the association of TNF-308G&gt;A variant with type 1 diabetes in a Brazilian cohort

Patente, Thiago A.; Monteiro, Maria Beatriz; Vieira, Suzana Maria; Silva, Maria E. Rossi da; Nery, Márcia; Queiroz, Márcia Silva; Azevedo, Mirela Jobim de; Canani, Luís Henrique Santos; Parisi, Maria Cândida Ribeiro; Pavin, Elizabeth João; Mainardi, Débora; Javor, Juraj; Coimbra, Cassio Negro; Corrêa-Giannella, Maria Lúcia

doi:10.1016/j.gene.2015.05.017

Cited by 6 publications

(2 citation statements)

References 29 publications

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“…Polymorphisms in the promoter of the TNFA gene at positions À238 (rs361525) and À308 (rs1800629) have been heavily studied for T1D association with conflicting results [78e83]. Most observed genetic association for TNFA with T1D is likely attributable to LD effects of TNFA promoter alleles with DR3 haplotype [81,83]. MHC class I chain-related gene A (MIC-A), a stress-induced antigen in gut epithelium, has also been studied for T1D association.…”

Section: Genes In the Hla Regionmentioning

confidence: 99%

Immunogenetics of type 1 diabetes: A comprehensive review

Noble¹

2015

Journal of Autoimmunity

173

146

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Section: Genes In the Hla Regionmentioning

confidence: 99%

Immunogenetics of type 1 diabetes: A comprehensive review

Noble¹

2015

Journal of Autoimmunity

173

146

View full text Add to dashboard Cite

“…Within the Brazilian population the TNF-α-308AA genotype is rarer (approximately 0–2 %) [ 23 , 35 , 36 ], and was only observed in the tendinopathy cases (~ 2 %). The total sample size was adequate to detect significant associations with 80 % statistical power; the small number of athletes with different locations of tendinopathies was the main limitation of this study.…”

Section: Discussionmentioning

confidence: 99%

Association of TNF-α -308G > A polymorphism with susceptibility to tendinopathy in athletes: a case–control study

Lopes

Miranda

Guimarães

et al. 2021

BMC Sports Sci Med Rehabil

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Background High levels of the tumor necrosis factor alpha (TNF-α) induce apoptosis and pro-inflammatory effects for primary degeneration of tendon and development of tendinopathy. The aim of this study was to investigate the association between the TNF-α polymorphisms and tendinopathy in athletes. Methods Two hundred and seventy athletes (135 tendinopathy cases and 135 controls) were included and genotyped (TNF-α -1031T > C; -857 C > T; -308G > A) using TaqMan validated assays. The association of the polymorphisms with tendinopathy was evaluated by a multivariate logistic regression model, using odds ratios (OR) and 95 % confidence intervals (CI). Results The variant allele − 308 A was significantly associated with patellar (OR: 1.9; 95 % CI: 1.01–3.6) or Achilles tendinopathies (OR: 2.7; 95 % CI: 1.1–6.7). No significant differences were found in allele or genotype distributions of the − 1031T > C and − 857 C > T polymorphisms between cases and controls. TNF-α TCA haplotype was associated with increased tendinopathies risk, either considering all cases (OR: 2.6, 95 % CI: 1.3–5.3), patellar (OR: 3.3, 95 % CI: 1.5–7.3), rotator cuff (OR: 3.1, 95 % CI: 1.4–7.2) or Achilles tendinopathies (OR: 3.8, 95 % CI: 1.1–12.7). Conclusions These results suggest that the TNF-α polymorphisms could influence the susceptibility to developing tendinopathy among athletes. Knowledge of the TNF-α polymorphisms associated to tendinopathy in athletes can further understanding of the inflammatory role in the early stages of the disease and contribute for sports injury surveillance programmes, in which athletes with TNF-α TCA haplotype could be early subjected to cryotherapy after training and competition to avoid tendinopathy development.

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Higher frequencies of HLA DQB1*05:01 and anti-glycosphingolipid antibodies in a cluster of severe Guillain–Barré syndrome

et al. 2016

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Few regional and seasonal Guillain-Barré syndrome (GBS) clusters have been reported so far. It is unknown whether patients suffering from sporadic GBS differ from GBS clusters with respect to clinical and paraclinical parameters, HLA association and antibody response to glycosphingolipids and Campylobacter jejuni (Cj). We examined 40 consecutive patients with GBS from the greater Munich area in Germany with 14 of those admitted within a period of 3 months in fall 2010 defining a cluster of GBS. Sequencing-based HLA typing of the HLA genes DRB1, DQB1, and DPB1 was performed, and ELISA for anti-glycosphingolipid antibodies was carried out. Clinical and paraclinical findings (Cj seroreactivity, cerebrospinal fluid parameters, and electrophysiology) were obtained and analyzed. GBS cluster patients were characterized by a more severe clinical phenotype with more patients requiring mechanical ventilation and higher frequencies of autoantibodies against sulfatide, GalC and certain ganglioside epitopes (54 %) as compared to sporadic GBS cases (13 %, p = 0.017). Cj seropositivity tended to be higher within GBS cluster patients (69 %) as compared to sporadic cases (46 %, p = 0.155). We noted higher frequencies of HLA class II allele DQB1*05:01 in the cluster cohort (23 %) as compared to sporadic GBS patients (3 %, p = 0.019). Cluster of severe GBS was defined by higher frequencies of autoantibodies against glycosphingolipids. HLA class II allele DQB1*05:01 might contribute to clinical worsening in the cluster patients.

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Linkage disequilibrium with HLA-DRB1-DQB1 haplotypes explains the association of TNF-308G>A variant with type 1 diabetes in a Brazilian cohort

Cited by 6 publications

References 29 publications

Immunogenetics of type 1 diabetes: A comprehensive review

Immunogenetics of type 1 diabetes: A comprehensive review

Association of TNF-α -308G > A polymorphism with susceptibility to tendinopathy in athletes: a case–control study

Higher frequencies of HLA DQB1*05:01 and anti-glycosphingolipid antibodies in a cluster of severe Guillain–Barré syndrome

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