Cytokine Expression in Keratoconus and its Corneal Microenvironment: A Systematic Review

Wisse, Robert P. L.; Kuiper, Jonas J.W.; Gans, Renze; Imhof, Saskia M.; Radstake, Timothy R D J; Lelij, Allegonda Van der

doi:10.1016/j.jtos.2015.04.006

Cited by 134 publications

(134 citation statements)

References 114 publications

(124 reference statements)

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“…Still, there are several reports supporting the notion of a role of inflammation in the thinning and weakening of the corneal tissue in KTCN. 34,35 In 2013, we identified several variants in genes encoded inflammatory molecules, IL1A and IL1B, in a KTCN family, but we observed a random distribution of them between KTCN and normal individuals. On the other hand, in all KTCN patients, we found a c.214+242C4T variant in the IL1RN gene, whose protein product modulates the effect of IL-1.…”

Section: Discussionmentioning

confidence: 87%

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing

et al. 2016

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Keratoconus (KTCN) is a protrusion and thinning of the cornea, resulting in impairment of visual function. The extreme genetic heterogeneity makes it difficult to discover factors unambiguously influencing the KTCN phenotype. In this study, we used whole-exome sequencing (WES) and Sanger sequencing to reduce the number of candidate genes at the 5q31.1-q35.3 locus and to prioritize other potentially relevant variants in an Ecuadorian family with KTCN. We applied WES in two affected KTCN individuals from the Ecuadorian family that showed a suggestive linkage between the KTCN phenotype and the 5q31.1-q35.3 locus. Putative variants identified by WES were further evaluated in this family using Sanger sequencing. Exome capture discovered a total of 173 rare (minor allele frequency o0.001 in control population) nonsynonymous variants in both affected individuals. Among them, 16 SNVs were selected for further evaluation. Segregation analysis revealed that variants c.475T4G in SKP1, c.671G4A in PROB1, and c.527G4A in IL17B in the 5q31.1-q35.3 linkage region, and c.850G4A in HKDC1 in the 10q22 locus completely segregated with the phenotype in the studied KTCN family. We demonstrate that a combination of various techniques significantly narrowed the studied genomic region and reduced the list of the putative exonic variants. Moreover, since this locus overlapped two other chromosomal regions previously recognized in distinct KTCN studies, our findings suggest that this 5q31.1-q35.3 locus might be linked with KTCN.

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Section: Discussionmentioning

confidence: 87%

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing

et al. 2016

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“…Stromal degradation and thinning is one of the most important aspects of KC. Multiple studies relate the thinning to increased levels of proteolytic enzymes and decreased levels of their inhibitors (Wisse et al, 2015). Various studies suggest that there may be an imbalance between pro-inflammatory and anti-inflammatory cytokine leading to altered epithelial and stromal functions (Jun et al, 2011; Wisse et al, 2015).…”

Section: Pathobiology Of Keratoconusmentioning

confidence: 99%

Pathogenesis of Keratoconus: The intriguing therapeutic potential of Prolactin-inducible protein

Sharif

Bak‐Nielsen

Hjortdal

et al. 2018

Progress in Retinal and Eye Research

103

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Keratoconus (KC) is the most common ectatic corneal disease, with clinical findings that include discomfort, visual disturbance and possible blindness if left untreated. KC affects approximately 1:400 to 1:2000 people worldwide, including both males and females. The aetiology and onset of KC remains a puzzle and as a result, the ability to treat or reverse the disease is hampered. Sex hormones are known to play a role in the maintenance of the structure and integrity of the human cornea. Hormone levels have been reported to alter corneal thickness, curvature, and sensitivity during different times of menstrual cycle. Surprisingly, the role of sex hormones in corneal diseases and KC has been largely neglected. Prolactin-induced protein, known to be regulated by sex hormones, is a new KC biomarker that has been recently proposed. Studies herein discuss the role of sex hormones as a control mechanism for KC onset and progression and evidence supporting the view that prolactin-induced protein is an important hormonally regulated biomarker in KC is discussed.

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“…47 Keratokonik korneada hangi hücreler tarafından salgılandığı bilinmemekle birlikte esas kaynağı epitel hücreleri, stromal keratositler ve endotel hücreleridir. 74 Keratokonuslu hastaların gözyaşlarında laktoferrin, immünglobulin A (IgA), çinko-α2glikoprotein ve Ig K-zinciri seviyelerinin normale göre düşük olduğu saptanmıştır. 75 Laktoferrin ve IgA'nın immünomodülasyon ve antiinflamatuar özellikleri bulunmaktadır.…”

Section: Oksi̇dati̇f Stresunclassified

New Developments in the Etiopathogenesis of Keratoconus: Oxidative Stress, Inflammation and Apoptosis

Saraç¹,

Çağıl²

2018

Turkiye Klinikleri J Ophthalmol

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Cytokine Expression in Keratoconus and its Corneal Microenvironment: A Systematic Review

Cited by 134 publications

References 114 publications

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing

Pathogenesis of Keratoconus: The intriguing therapeutic potential of Prolactin-inducible protein

New Developments in the Etiopathogenesis of Keratoconus: Oxidative Stress, Inflammation and Apoptosis

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