Human leukocyte antigen (HLA) and single nucleotide polymorphisms (SNPs) tumor necrosis factor (TNF)-alpha -238 and -308 as genetic markers of susceptibility to psoriasis and severity of the disease in a long-term follow-up Brazilian study

2010 ◽  
Vol 49 (10) ◽  
pp. 1133-1140 ◽  
Author(s):  
Renata Ferreira Magalhães ◽  
Ana Cristina Biral ◽  
João Alexandre Trés Pancoto ◽  
Eduardo Antonio Donadi ◽  
Celso Texeira Mendes-Júnior ◽  
...  
2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
Y M Park ◽  
S Y Roh ◽  
D I Lee ◽  
J Shim ◽  
J.-I Choi ◽  
...  

Abstract Background The status of SNPs among patients with extremely early-onset lone AF and the association with outcome of catheter ablation has not been evaluated before. This study evaluated the status of single nucleotide polymorphisms (SNPs) in Korean patients with early-onset (<40 years old) lone AF and effects on the outcome after catheter ablation. Methods A total of 89 consecutive patients (mean age 35.7±3.7 years, 81 males) with drug-refractory AF (paroxysmal 64.0%) who underwent catheter ablation were included. Sixteen SNPs including rs13376333, rs10465885, rs10033464, rs2200733, rs17042171, rs6843082, rs7193343, rs2106261, rs17570669, rs853445, rs11708996, rs6800541, rs251253, rs3807989, rs11047543 and rs3825214 were genotyped. Serial 48-day Holter electrocardiographic recordings were acquired to detect AF recurrences during long-term follow up. Results Wild type of rs7193343 [CC; 0/7 (0%) vs. CT; 22/40 (55.0%) vs. TT; 18/41 (43.9%), p=0.025] and rs11047543 [GG; 26/69 (37.7%) vs. GA; 13/18 (72.2%) vs. AA; 0/0, p=0.009] and homozygous variant of rs3825214 [AA; 16/31 (51.6%) vs. AG; 22/43 (51.2%) vs. GG; 2/13 (15.4%), p=0.05] were significantly associated with lower rate of late recurrence. When the patients were assigned to four groups according to the number of risk alleles (n=0–3), Kaplan-Meier survival analysis showed incremental prognostic value according to the number of variant alleles (p=0.002) (Figure 1). Figure 1 Conclusions Polymorphisms on rs7193343, rs3825214 and rs11047543 modulate the risk for AF recurrence after catheter ablation during long term follow up in Korean patients with early-onset lone AF. Acknowledgement/Funding Korean Society of Cardiology


2008 ◽  
Vol 145 (3) ◽  
pp. 472-479 ◽  
Author(s):  
Arthur M.D. Braakenburg ◽  
Harold W. de Valk ◽  
Joke de Boer ◽  
Aniki Rothova

2018 ◽  
Vol 22 (02) ◽  
pp. 189-196
Author(s):  
Kay-Geert Hermann ◽  
Anna Zejden ◽  
Iwona Sudoł-Szopińska ◽  
Iris Eshed

AbstractSpondyloarthritis (SpA) is a group of diseases characterized by back pain, spinal inflammation, human leukocyte antigen-B27 positivity, and peripheral findings such as dactylitis, enthesitis, and uveitis. It includes ankylosing spondylitis, psoriatic arthritis, reactive arthritis, arthritis associated with inflammatory bowel disease, and undifferentiated SpA. The role of imaging in the diagnosis, management, and follow-up of patients with SpA has become dramatically more important with the introduction of new therapies such as tumor necrosis factor-α inhibitors. Although in many instances differentiating between the SpA entities is straightforward based on the clinical presentation, often such differentiation remains challenging, and categorization of an individual patient into a subset of SpA can be difficult. Imaging, mainly radiography and magnetic resonance imaging, serves as an important diagnostic tool. Diseases in the spondyloarthritis complex share common presentation but at the same time may have distinct radiographic phenotypes. We present these common and distinct imaging manifestations that may potentially help distinguish between the entities in the diagnostic work-up.


Medicine ◽  
2017 ◽  
Vol 96 (34) ◽  
pp. e7859 ◽  
Author(s):  
Sinem Nihal Esatoglu ◽  
Gulen Hatemi ◽  
Serdal Ugurlu ◽  
Aycan Gokturk ◽  
Koray Tascilar ◽  
...  

PLoS ONE ◽  
2008 ◽  
Vol 3 (5) ◽  
pp. e2270 ◽  
Author(s):  
Alienke J. Monsuur ◽  
Paul I. W. de Bakker ◽  
Alexandra Zhernakova ◽  
Dalila Pinto ◽  
Willem Verduijn ◽  
...  

2019 ◽  
Vol 54 (2) ◽  
pp. 1802126 ◽  
Author(s):  
Julieta Lazarte ◽  
Jin Ma ◽  
Tereza Martinu ◽  
Liran Levy ◽  
William Klement ◽  
...  

Human leukocyte antigen (HLA)-G is a non-classical HLA that inhibits immune responses. Its expression is modified by single nucleotide polymorphisms (SNPs), which are associated with transplant outcomes. Our aim was to investigate the association of donor and recipient HLA-G SNPs with chronic lung allograft dysfunction (CLAD) and mortality after lung transplantation.In this single-centre study, we examined 11 HLA-G SNPs in 345 consecutive recipients and 297 donors of a first bilateral lung transplant. A multivariable Cox proportional hazards model assessed associations of SNPs with death and CLAD. Transbronchial biopsies (TBBx) and bronchoalveolar lavage (BAL) samples were examined using quantitative PCR, ELISA and immunofluorescence.Over a median of 4.75 years, 142 patients (41%) developed CLAD; 170 (49%) died. Multivariable analysis revealed donor SNP +3142 (GG+CG versus CC) was associated with increased mortality (hazard ratio 1.78, 95% CI 1.12–2.84; p=0.015). In contrast, five donor SNPs, -201(CC), -716(TT), -56(CC), G*01:03(AA) and 14 bp INDEL, conferred reduced mortality risk. Specific donor–recipient SNP pairings reduced CLAD risk. Predominantly epithelial HLA-G expression was observed on TBBx without rejection. Soluble HLA-G was present in higher concentrations in the BAL samples of patients who later developed CLAD.Specific donor SNPs were associated with mortality risk after lung transplantation, while certain donor–recipient SNP pairings modulated CLAD risk. TBBx demonstrated predominantly epithelial, and therefore presumably donor-derived, HLA-G expression in keeping with these observations. This study is the first to demonstrate an effect of donor HLA-G SNPs on lung transplantation outcome.


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