Genotype-Phenotype Association Study Reveals <i>CFI</i>-Rs13104777 to be a Protective Genetic Marker Against Acute Anterior Uveitis

Huang, Xiu‐Feng; Lin, Dan; Lin, Keng‐Hung; Lee, Shi-Huang; Xia, Xiaoru; Yang, Yi-Mai; Zhu, Xuefei; Wang, Yulin; Wang, Qingfeng; Jin, Zi‐Bing; Wang, Yuqin

doi:10.1080/09273948.2016.1178305

Cited by 4 publications

(1 citation statement)

References 18 publications

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“…Other genes with a confirmed association with uveitis in AS patients are ERAP1 and ERAP2. Research should be extended to include polymorphisms of other uveitis-related genes to include AS patients, e.g., IL-10, MAP4K4/IL1R2, TNFSF15, CFI, CD59, and CFH [49][50][51][52][53][54]. The influence could be related to sex, the presence of HLA-B27 or AS status.…”

Section: * -P Statistically Insignificant In This Studymentioning

confidence: 99%

"Genetic Research in Axial Spondyloarthropathies - What Do We Know?"

Bugaj¹

2022

BJSTR

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Axial spondyloarthropathies lead to restricted mobility, resulting in difficulties in patients' daily functioning. Due to the lack of a pathognomonic test, diagnosis is based on a combination of physical examination, laboratory test and imaging results. In therapy the question arises: which treatment line should be chosen? The aim of this article is to discuss the current state of knowledge regarding the role of genes in disease susceptibility. We also present potential genetic markers related to disease activity, the occurrence of extra-articular symptoms and treatment efficacy. The pathogenesis of the most common ankylosing spondylitis is not fully understood, and genetic predisposition is of great importance. To date, except HLA-B27, more than 100 non-MHC loci have been discovered. The results of analyses of genetic polymorphisms are encouraging in predicting disease activity. Moreover, variants associated with the treatment efficacy of both classical disease-modifying drugs and biologics were also found. Discovering genetic factors will enable us to understand the pathogenesis. Genetic patient profiling can improve the diagnosis and identify persons at risk of severe disease. Single-nucleotide polymorphisms have the potential to be genetic markers of the effectiveness of therapy. This knowledge may be a key factor in the revolution in medicine -treatment personalization.

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Section: * -P Statistically Insignificant In This Studymentioning

confidence: 99%

"Genetic Research in Axial Spondyloarthropathies - What Do We Know?"

Bugaj¹

2022

BJSTR

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Progress in the genetics of uveitis

Huang

Brown

2022

Genes Immun

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Uveitis is the most common form of intraocular inflammatory disease and is a significant cause of visual impairment worldwide. Aetiologically, uveitis can also be classified into infectious uveitis and non-infectious uveitis. The common non-infectious forms of uveitis include acute anterior uveitis (AAU), Behçet’s disease (BD), Vogt-Koyanagi-Harada (VKH) disease, birdshot chorioretinopathy (BSCR), sarcoid uveitis. In addition, a few monogenic autoinflammatory disorders can also cause uveitis, such as Blau Syndrome and haploinsufficiency of A20 (HA20). Although the exact pathogenesis of non-infectious uveitis is still unclear, it is well-recognised that it involves both genetic and environmental risk factors. A hallmark of uveitis is its strong associations with human leucocyte antigens (HLA). For examples, AAU, BD and BSCR are strongly associated with HLA-B27, HLA-B51, and HLA-A29, respectively. In uveitis studies, multiple GWAS have successfully been conducted and led to identification of novel susceptibility loci, for example, IL23R has been identified in BD, VKH and AAU. In this review, we summarize the latest progress on the genetic associations of both HLA and non-HLA genes with major forms of uveitis, including AAU, BD, VKH, BSCR, sarcoid uveitis, Blau Syndrome and HA20, and potential future research directions.

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Diagnostische Strategie und therapeutisches Dilemma bei akuter posteriorer und Panuveitis

Garweg

Messerli

2019

Klin Monatsbl Augenheilkd

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ZusammenfassungDie breite Differenzialdiagnose der akuten posterioren und Panuveitis, die meist jüngere Individuen und in mehr als der Hälfte beide Augen betrifft, macht die rasche diagnostische Einordnung und die therapeutische Entscheidung wegen ihrer erheblichen Konsequenzen für den weiteren Verlauf zu kritischen Schritten. Das Risiko eines bleibenden Visusverlustes infolge eines verzögerten Therapiebeginns ist dabei ebenso bedeutsam wie das Einleiten einer nicht genügend wirksamen Therapie. Klinische Präsentation (anatomische Lokalisation und Entzündungstyp), Verlauf und sekundär das Ansprechen auf die Akuttherapie lassen eine erste diagnostische Eingrenzung zu, wobei eine infektiöse Ätiologie in bis zu einem Drittel der Fälle vorliegt. Die häufigste akute posteriore Uveitis bei immunkompetenten Patienten ist eine akute virale Netzhautnekrose. Diese lässt sich oft klinisch nicht sicher von einer Behçet-Uveitis unterscheiden, solange keine systemischen Manifestationen vorliegen. Bis zur definitiven diagnostischen Einordnung muss deshalb bei makulabedrohender Erkrankung spätestens 24 Stunden nach Beginn einer antiviralen und antiparasitären Akuttherapie eine hochdosierte Steroidtherapie begonnen werden. Den therapeutischen Konsequenzen der Fehleinschätzung der Erkrankung stehen prognostische Überlegungen gegenüber, die ein aggressives Vorgehen gerade bei akuten posterioren Uveitiden rechtfertigen: Jede Verzögerung des Therapiebeginns vermehrt die infektiöse und entzündliche Gewebsschädigung, erhöht das Risiko einer Affektion des Partnerauges und anderer Organe, wohingegen der Einsatz höherer Steroiddosen, Immunsuppressiva und Biologika zu unkontrollierter Erregerproliferation und zu Rezidiven führen kann.

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Genotype-Phenotype Association Study Reveals CFI-Rs13104777 to be a Protective Genetic Marker Against Acute Anterior Uveitis

Cited by 4 publications

References 18 publications

"Genetic Research in Axial Spondyloarthropathies - What Do We Know?"

"Genetic Research in Axial Spondyloarthropathies - What Do We Know?"

Progress in the genetics of uveitis

Diagnostische Strategie und therapeutisches Dilemma bei akuter posteriorer und Panuveitis

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