Polymorphism Analysis of<i>COL4A3</i>and<i>COL4A4</i>Genes in Greek Patients with Keratoconus

Kokolakis, Nikolaos S.; Gazouli, Maria; Chatziralli, Irini; Koutsandrea, Chryssanthi; Gatzioufas, Zisis; Peponis, V; Droutsas, Konstantinos; Kalogeropoulos, Chris; Anagnou, Nicholas P.; Miltsakakis, Dimitrios; Moschos, Marilita M.

doi:10.3109/13816810.2014.946055

Cited by 25 publications

(25 citation statements)

References 9 publications

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“…1) 21–24, 32, 37–54 . Among these 24 studies, 20 were candidate gene studies conducted in different populations, including Whites 39, 41, 43, 44, 47, 49–52, 55 , Arabic 37, 38, 40 , Chinese 45, 56 , Korean 53, 54 , Japanese 48 , Indian 46 , and Turkish 42 . The total sample sizes from these candidate gene studies were 3,037 patients with keratoconus and 9,928 controls.…”

Section: Resultsmentioning

confidence: 99%

Genetic associations for keratoconus: a systematic review and meta-analysis

Rong

et al. 2017

Sci Rep

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Genetic associations for keratoconus could be useful for understanding disease pathogenesis and discovering biomarkers for early detection of the disease. We conducted a systematic review and meta-analysis to summarize all reported genetic associations for the disease. We searched in the MEDLINE, Embase, Web of Science, and HuGENET databases for genetic studies of keratoconus published from 1950 to June 2016. The summary odds ratio and 95% confidence intervals of all polymorphisms were estimated using the random-effect model. Among 639 reports that were retrieved, 24 fulfilled required criteria as eligible studies for meta-analysis, involving a total of 53 polymorphisms in 28 genes/loci. Results of our meta-analysis lead to the prioritization of 8 single-nucleotide polymorphisms (SNPs) in 6 genes/loci for keratoconus in Whites. Of them 5 genes/loci were originally detected in genome-wide association studies, including FOXO1 (rs2721051, P = 5.6 × 10−11), RXRA-COL5A1 (rs1536482, P = 2.5 × 10−9), FNDC3B (rs4894535, P = 1.4 × 10−8), IMMP2L (rs757219, P = 6.1 × 10−7; rs214884, P = 2.3 × 10−5), and BANP-ZNF469 (rs9938149, P = 1.3 × 10−5). The gene COL4A4 (rs2229813, P = 1.3 × 10−12; rs2228557, P = 4.5 × 10−7) was identified in previous candidate gene studies. We also found SNPs in 10 genes/loci that had a summary P value < 0.05. Sensitivity analysis indicated that the results were robust. Replication studies and understanding the roles of these genes in keratoconus are warranted.

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Section: Resultsmentioning

confidence: 99%

Genetic associations for keratoconus: a systematic review and meta-analysis

Rong

et al. 2017

Sci Rep

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“…The reduction of the mRNA expression levels of these three corneal structure-related genes has been associated with the severity of keratoconus [37]. Furthermore, the coexistent increase in the levels of MMP9 suggests a possible regulatory signaling loop between these collagen-degrading and cross-linking enzymes, being involved in the pathogenesis of keratoconus [37].…”

Section: Polymorphisms In Genes Encoding Collagen and Cellular Cytoskmentioning

confidence: 99%

“…Lysyl oxidase is a copper-dependent amine oxidase, which oxidizes the epsilon amino groups of peptidyl lysines into reactive aldehydes [37]. Thus it is responsible for the development of lysine-derived crosslinks in extracellular matrix proteins, such as collagen and elastin [37]. The reduction of the mRNA expression levels of these three corneal structure-related genes has been associated with the severity of keratoconus [37].…”

Section: Polymorphisms In Genes Encoding Collagen and Cellular Cytoskmentioning

confidence: 99%

Section: Polymorphisms In Genes Encoding Collagen and Cellular Cytoskmentioning

confidence: 99%

“…Besides collagen IV, the transcript levels of collagen I and Lysyl oxidase genes have been found to be diminished in keratoconic patients [37]. Lysyl oxidase is a copper-dependent amine oxidase, which oxidizes the epsilon amino groups of peptidyl lysines into reactive aldehydes [37].…”

Section: Polymorphisms In Genes Encoding Collagen and Cellular Cytoskmentioning

confidence: 99%

See 2 more Smart Citations

The Genetic Background of Keratoconus: A Review on Keratoconus Genes

Moschos¹,

Gazouli²,

Nitoda³

2016

J Clin Exp Ophthalmol

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Keratoconus is a chronic, bilateral, usually asymmetrical, non-inflammatory, ectatic disorder, being characterized by progressive steepening, thinning and apical scarring of the cornea. It affects approximately 1 in every 2000 individuals, but its incidence seems to be increased with the clinical use of corneal topography. Keratoconus is considered as a multifactorial disease, caused by the interaction between several genes, microRNAs and environmental factors, including eye rubbing, atopy, sun exposure, geographic location and race. Although the disease is usually sporadic, a genetic predisposition and raised incidence in familial and monozygotic twins have been described. Given that the diagnosis of the disease is based on a anterior eye assessment, the identification of certain genes could be an additional diagnostic tool. Furthermore, it may pave the way for the gene therapy of the disease.

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