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A single nucleotide polymorphism in the IL1RL1 gene is associated with behcet's disease in a Chinese Han population

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International Journal of Ophthalmology(English edition) 2021年第9期14卷 1315-1320页

作者： Xin-shu Liu Zi-Yan Wu si Chen Chan Zhao Fei Gao Ming-Hang Pei shan-shan Jia Yong-Zhe Li Pei-Zeng Yang Mei-Fen Zhang Department of Ophthalmology Peking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China Department of Rheumatology and Clinical Immunology Peking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeKey Laboratory of Rheumatology and Clinical ImmunologyMinistry of EducationBeijing 100730China Department of Clinical Laboratory Beijing Anzhen HospitalCapital Medical UniversityBeijing 100029China Department of Clinical Laboratory Peking Union Medical College HospitalPeking Union Medical College and Chinese Academy of Medical SciencesBeijing 100730China The First Affiliated Hospital of Chongqing Medical University Chongqing Key Laboratory of Ophthalmology and Chongqing Eye InstituteChongqing 400016China

AIM:To explore the association of single nucleotide polymorphisms(sNPs)in the IL33/IL1RL1 gene region with the susceptibility to behcet’s disease(BD)in a Chinese Han ***:A total of eight sNPs in the candidate gene region(rs11792633,rs7025417,rs10975519 and rs1048274 in IL33;rs2310220,rs12712142,rs13424006 and rs3821204 in IL1RL1)were genotyped in783 BD patients and 701 healthy controls by the sequenom Mass Array i PLEX ***:A statistically significant association was observed between IL1RL1 rs12712142 and BD *** frequency of IL1RL1 rs12712142 variant allele A was significantly lower in BD patients than that in controls(OR=0.8,95%CI:0.69-0.94,Pc=0.039);the genotype distribution(Pc=0.043)and additive and dominant genetic model analyses(OR=0.8,95%CI:0.69-0.94,Pc=0.040 and OR=0.72,95%CI:0.58-0.88,Pc=0.011)also indicated a strong association between rs12712142 and BD ***:This is the first study to reveal the association between IL1RL1 rs12712142 variant allele A and the decreased risk of BD in the Chinese Han population,indicating a protective role of IL1RL1 in the pathogenesis of BD.

关键词： behcet’s disease single nucleotide polymorphism Chinese Han population IL33 IL1RL1

The genetics of behcet’s disease in a Chinese population

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Frontiers of Medicine 2012年第4期6卷 354-359页

作者： shengping Hou Aize Kijlstra Peizeng Yang The First Affiliated Hospital of Chongqing Medical University Chongqing 400016China Chongqing Eye Institute and Chongqing Key Laboratory of Ophthalmology Chongqing 400016China University Eye Clinic Maastricht MaastrichtLimburgthe Netherlands

behcet’s disease is defined as a multisystemic inflammatory *** the precise pathogenesis and etiology is still a mystery,accumulating evidence shows that genetic variants of immune-related genes have a profound influence on the development of behcet’s *** explore the genetic factors for behcet’s disease,our group investigated the association of behcet’s disease with multiple immune response genes and has identified multiple behcet’s disease-related immunoregulatory pathways in the Chinese Han population.A large number of gene polymorphisms were studied including sTAT4,IL23R,CD40,CCR1/CCR3,sTAT3,OPN,IL17,JAK2,MCP-1,CTLA4,PD-1,PD-L1,PD-L2,TGRBR3,CCR6,PTPN22,FCRL3,IRF5,sUMO4 and *** associations were found between behcet’s disease and sTAT4,IL23R,CD40,CCR1/CCR3,sTAT3,MCP-1,TGFBR3,FCRL3,sUMO4,*** genetic predisposition studies support an important role for both lymphocyte differentiation as well as ubiquitination *** findings are helpful in elucidating the pathogenesis of behcet’s disease and hopefully will allow the development of novel treatment regimes.

关键词： behcet’s disease sNPs immune gene genetic study

Assessment of Cardiac Autonomic Function by Using Heart Rate Turbulence in behcet’s disease

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World Journal of Cardiovascular surgery 2014年第11期4卷 193-199页

作者： Onder Akci Mustafa Aldemir Fatma Yaman Ozlem solak sadik Volkan Emren Ersel Onrat Alaeddin Avsar Cardiology Department School of MedicineAfyon Kocatepe UniversityAfyonkarahisarTurkey Cardiovascular surgery Department School of MedicineAfyon Kocatepe UniversityAfyonkarahisarTurkey Physical Medicine and Rehabilitation Department School of MedicineAfyon Kocatepe UniversityAfyonkarahisarTurkey Cardiology Department Afyon State HospitalAfyonkarahisarTurkey

behcet’s disease (BD) is a chronic inflammatory disorder that can affect many systems in the body. Cardiac involvement increases the risk of cardiovascular mortality and occurs in 1%-5% of patients with BD. Ventricular arrythmias are believed to be the cause of this increased risk of cardiovascular mortality and it is also thought to be related with cardiac autonomic dysfunction. Heart rate turbulence (HRT) is a new predictor of cardiac autonomic activity. HRT is an independent and powerful predictor of mortality. In this study, we investigated the cardiac autonomic activity which can be determined by HRT in patients with BD. Forty patients with BD (20 men, mean age: 40 ± 9 years, range: 27-55 years) were diagnosed according to the International study Group Criteria (IsGC) and gender and age matched healthy volunteers (20 men, mean age: 39 ± 8 years, range: 26-56 years) were included in this study. All of the participants (patients and controls) underwent 24 hours Holter electrocardiogram. HRT parameters, turbulence onset (TO) and turbulence slope (Ts) were calculated with HRT (View Version 0.60-0.1 of software Program). There were no significant differences in TO and Ts values between patients with BD and control subject (TO-BD: 0.014 ± 0.03, TO-Control: 0.011 ± 0.04;Ts-BD: 7.88 ± 4.9, Ts-Control: 9.42 ± 6.7 respectively). Although increased cardiovascular mortality rates in BD have been shown in many studies, HRT values—detecting the risk of sudden death—do not seem to be altered in this disease.

关键词： behcet’s disease Heart Rate Turbulence sudden Cardiac Death Cardiac Autonomic Activity

Evaluation of a new Tunisian version of behcet’s disease current activity form

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Open Journal of Internal Medicine 2013年第4期3卷 135-140页

作者： Olfa Harzallah Yassine Meksi Amira Hamzaoui Rym Klii Amira Atig silvia Mahjoub Internal Medicine Department Fattouma Bourguiba HospitalMonastirTunisia

Background: Behçet’s syndrome (Bs) is characterized by a heterogeneous vessel involvement, a fluctuating natural history and by the absence of biological markers correlated to disease activity that’s why objective clinical scores are needed for the assessment of its activity. The Behçet’s disease Clinical Activity Form (BDCAF) is the most recent and widely used clinical activity score. Objectives: To perform a cross-cultural adaptation of the Behçet’s disease Current Activity Form (BDCAF) to the Tunisian Dialect (Arabic Language) and to evaluate the metrological characteristics of the Tunisian version (Tu-BDCAF) especially its reliability in BD activity evaluation. Methods: Cross-cultural adaptation was done according to the established guidelines. Reliability of Tu-BDCAF was tested among 40 BD patients (mean age: 38 years, sex ratio: 1.37). Patients were questioned by two BD specialists at 20 minutes interval to evaluate inter-observer reproducibility and twice by the same physician at 48 hours interval to assess the intra-observer reproducibility. k Coefficient was used to test the concordance between qualitative variables and correlation between quantitative variables was evaluated used Pearson coefficient and Bland and Altman graphical method. Results: There was a good correlation between global scores calculated by the two physicians on the same day (r = 0.94, p so between the scores calculated by the same clinician at different times (r = 0.98, p k Coefficient analyses demonstrated a good intra and inter observer reliability for all the Tu-BDCAF items excepted for diarrhea and Clinician’s impression. As the original version, Tu-BDCAF is an objective, easy-calculated and reliable index for assessing disease activity in BD. The main limit of the BDCAF score remains the absence of a cut-off point defining BD activity. Conclusion: Tu-BDACF is a Tunisian version of the BDCAF score which can be used in routine to assess BD activity but

关键词： behcet’s disease disease Activity disease Activity score Reliability of Results

Biologic Agents in behcet’s disease:Our Experience and Review of the Literature

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Open Journal of Rheumatology and Autoimmune diseases 2015年第4期5卷 97-103页

作者： Nesibe Karahan Yesil Hatice sahin Hatice Isik Zuhal Irnek serpil Yazgan Adem Tok Yunus Emre Yandi Metin Isik Ismail Dogan Department of Rheumatology Ankara Research and Education Hospital Ankara Turkey Department of Internal Medicine Faculty of Medicine Bülent Ecevit University Zonguldak Turkey Department of Obstetrics and Gynecology Faculty of Medicine Bülent Ecevit University Zonguldak Turkey Department of Pediatric Disaease Faculty of Medicine Bülent Ecevit University Zonguldak Turkey Department of Ophtalmology Faculty of Medicine Bülent Ecevit University Zonguldak Turkey Department of Urology Faculty of Medicine Bülent Ecevit University Zonguldak Turkey Division of Biochemistry Department of Medical Services and Techniques Health Sciences Vocational School Bülent Ecevit University Zonguldak Turkey Division of Rheumatology Department of Internal Medicine Faculty of Medicine Bülent Ecevit University Zonguldak Turkey Division of Rheumatology Department of Internal Medicine Faculty of Medicine Hitit University &Ccedilorum Turkey

behcet’s disease (BD) is a large vessel vasculitis with a wide range of clinical manifestations. some of these manifestation may be life threatening and rapid suppression of the inflammation with effective immunosuppressive agent is crucial. There are traditional drugs with different response rates and all have efficacy on different manifestations of the disease. The most frightening manifestations of the disease are ocular, neurologic, intestinal and vascular types of involvement. Besides benign and easily treated manifestations there are also refractory cases with complicated involvement. The novel biologic agents have been used for these resistant patients and favorable response rates have been reported. In this review, we have shared our experience with biologic agents in BD and also reviewed the literature for the efficacy and safety for these novel agents for refractory patients.

关键词： behcet’s disease Novel Biologic Agents Refractory Patients

Amyloïdosis Complicating behcet’s disease

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Open Journal of Clinical Diagnostics 2016年第3期6卷 42-46页

作者： Amel Harzallah Hayet Kaaroud El Jery Mariem Hajji Ikram Mami Rim Goucha sami Turki Fethi Ben Hamida Madiha Mahfoudhi Taieb Ben Abdallah Department of Medicine A Charles Nicolle Hospital Tunis Tunisia Faculty of Medicine University of Tunis El Manar Tunis Tunisia Laboratory of Renal Pathology LR00sP01 Charles Nicolle Hospital Tunis Tunisia

Background: behcet’s disease is a vasculitis affecting several organs. A renal involvement is rarely described. It is most of the time about a renal amyloidosis. Patients and methods: It is a descriptive retrospective study concerning the patients followed in our department for a behcet’s disease having presented a renal amyloidosis. Results: It is about 4 men with average age of 38.25 years old. The renal involvement was revealed after an average delay of 5.7 years by a nephrotic syndrome in all cases. A renal insufficiency was noted in 3 cases with an average serum creatinine of 587 μmol/l (127 - 1490). The type of the amyloidosis was AA in 2 cases. The treatment contained colchicines in every case. The evolution was marked by the worsening of the renal function leading to end stage renal disease in 3 cases. Death occurred in 1 case and one patient lost to follow up. Discussion: Renal amyloidosis can complicate the evolution of a behcet’s disease. It occurs generally 1 to 10 years after the beginning of the disease. Once installed, it evolves generally towards the chronic renal insufficiency and can condition the forecast of this affection. Conclusion: Amyloidosis is a rare complication of the behcet’s disease. Its screening is so desirable to improve the renal prognosis of these patients.

关键词： Amyloidosis Prognosis behcet’s disease

Anticoagulant and Fibrinolytic Disorders in Patients with behcet’s disease and Recurrent Aphthous Ulcer

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Anticoagulant and Fibrinolytic Disorders in Patients with Be...

FAs gene copy numbers are associated with susceptibility to behcet's disease and VKH syndrome in Han Chinese

山东省医学会第十一次老年医学分会学术会

作者： Hong shang Jingjing Ye Min Ji Fufang Wang Yuanyuan Zhu Xiangmin Qi Key Laboratory of Cardiovascular Proteomics of shandong Province Department of GeriatricsQilu HospitalShandong University Department of Haematology Qilu HospitalShandong University stomatology Hospital Shandong University

＜正＞behcet’s disease（BD） is a chronic multisystemic inflammatory disorder characterized by recurrent oral and genital aphthous ulcers,uveitis and skin *** aphthous ulcer（RAU） is the most prevalent oral mucosal disease in *** pathogenesis and thrombopoiesis of BD and RAU have not been fully *** reveal the haemostatic dysfunctions in the patients with BD and RAU,we evaluated the levels of coagulant,anticoagulant and fibrinolytic parameters in these patients. FactorⅧclotting activity（FⅧ:c）,protein C antigen（PC:Ag）,total protein s antigen（TPs:Ag）, tissue-type plasminogen activator antigen（t-PA:Ag）,plasminogen activator inhibitor-1 antigen （PAI-1:Ag） and D-dimer were detected in 24 BD,58 RAU patients and 50 *** showed that levels of PC:Ag,TPs:Ag,PAI-1:Ag and D-dimer were significantly elevated in both BD and RAU patients compared with controls（P ＜ 0.01）.PAI-1:Ag was even higher in BD patients than in RAU patients（74.99±12.28 vs.69.57±13.11,P ＜ 0.05）,whereas the level of t-PA:Ag was significantly reduced in patients with BD and RAU（P ＜ 0.01）.In patients with RAU,PC:Ag was lower in major aphthous ulcer （MjAU） group than in minor aphthous ulcer（MiAU） group（P ＜ 0.05）.The expression of FVIII:c was significantly elevated in MiAU patients compared with controls（P ＜ 0.01）,while no difference was observed between MjAU patients and controls（P ＞ 0.05）.Our studies showed that there were anticoagulant and fibrinolytic disorders in BD patients,which may be responsible for diminished fibrinolysis in *** haemostatic parameters may be correlated with the severity of RAU.

关键词： behcet’s disease recurrent aphthous ulcer coagulation anticoagulation fibrinolysis

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FAS gene copy numbers are associated with susceptibility to ...

Research Progress on TCM Treatment of behcet's disease

2015中国遗传学会大会

作者： Hongsong Yu Le Luo Lili Wu Minming Zheng Lijun Zhang Yunjia Liu Hua Li Qingfeng Cao Aize Kijlstra Peizeng Yang The First Affiliated Hospital of Chongqing Medical University Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute

Previous studies have identified that disturbedapoptosiswas involved in the pathogenesis of behcet’s disease(BD)and VKH *** study aimsto investigate whether copy number variations(CNVs)of apoptosis-related genes,including FAs,caspase8,caspase3 and BCL-2,are associated with BD and VKH syndrome in Han Chinese.A two-stage association study was performed in 1014 BD patients,1051 VKH syndrome patients and 2076 healthy *** Number Assays and real-time PCR were *** first-stage study showed that increased frequency of high FAs copy number(>2)was found in BD(P=5.42×10)and VKH syndrome(P=2.56×10).Replication and combined study confirmed the association of high copy number(>2)of FAs with BD(P=9.52×10)and VKH syndrome(P=9.77×10).A significant up-regulated mRNA expression of FAs was observed in anti-CD3/CD28 antibodies-stimulated CD4T cells from individuals carrying a high gene copy number(>2)as compared to normal diploid 2 copy number carriers(P=0.004).Moreover,the mRNA expression of FAs both in active patients with BD and VKH syndrome was significantly higher than that in controls(P=0.001 and P=0.007,respectively).In conclusion,our findings suggest that a high copy number of FAsgene confers risk for BD and VKH syndrome.

关键词： FAs copy number variation behcet’s disease VKHsyndrome

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Proceedings of Anticancer Research 2021年第1期5卷 22-25页

作者： Jia shi The First Affiliated Hospital of Tianjin University of Traditional Chinese Medicine Tianjin 300380China

behcet's disease is a vasculitis disease involving multiple systems,and its pathogenesis is still *** paper discusses the research progress on the treatment of behcet's disease in traditional Chinese medicine and integrated traditional Chinese and Western *** clinical efficacy of integrated traditional Chinese and western medicine in the treatment of behcet's disease is significantly better than that of Western medicine alone,which is worthy of further research.

关键词： behcet’s disease Etiology and Pathog-enesis Traditional Chineese Medicine Treatment Chinese and Western Medicine Treatment Overview