Mutational Analysis of Pre-miR-184 and hsa-mir-568 in Greek Patients With Sporadic Keratoconus

Moschos, Marilita M.; Droutsas, Konstantinos; Sioziou, Anna; Dettoraki, Maria; Gazouli, Maria

doi:10.1097/ico.0000000000000769

Cited by 9 publications

(8 citation statements)

References 19 publications

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“…1). In the meta-analysis, we excluded 12 of the 36 articles because 7 of them were about gene variants that were not tested in additional independent studies 27–33 , 2 reported insufficient genotype data for meta-analysis 34, 35 , 2 were reviews 25, 26 , and 1 was an animal study 36 . We did not receive genotype data after contacting some of the authors 34, 35 .…”

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 variants in miR - 184 were also identified in four subsequent studies performed in two Chinese patients with isolated KTCN; in patients with a syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT); in members of family with congenital cataracts and corneal abnormalities including KTCN, and in Greek sporadic KTCN patients (Iliff et al 2012; Lechner et al 2013; Bykhovskaya et al 2015; Moschos et al 2016). In contrast, latest studies performed in Iranian and Saudi Arabian KTCN patients revealed no significant miR - 184 variants, which may suggest that alterations in miR - 184 are a rare cause of KTCN alone (Abu-Amero et al 2015b; Farzadfard et al 2016).…”

Section: Next-generation Sequencing As a Tool For High-throughput Datmentioning

confidence: 92%

Genomic strategies to understand causes of keratoconus

Karolak

Gajęcka

2016

Mol Genet Genomics

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Keratoconus (KTCN) is a degenerative disorder of the eye characterized by the conical shape and thinning of the cornea. The abnormal structure of KTCN-affected cornea results in loss of visual acuity. While many studies examine how environmental factors influence disease development, finding the genetic triggers has been a major emphasis of KTCN research. This paper focuses on genomic strategies that were implemented for finding candidate genes, including linkage and association studies, and presents different approaches of mutation screening. The advantages and limitations of particular tools are discussed based on literature and personal experience. Since etiology underlying KTCN is complex, numerous findings indicating heterogeneity of genetic factors involved KTCN etiology are presented.

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“…[22][23][24][25] For example, hsa-miR-568 polymorphism has been identified in sporadic keratoconus and a mutation altering the miR-184 seed region has been reported to cause keratoconus with congenital cataract. [26,27] Genetic variants of miR-146a are associated with pediatric uveitis and mutations in miR-182 predispose to Behcet's disease and Vogt-Koyanagi-Harada syndrome. [28,29] Variants in several MIR genes have been also associated with POAG.…”

Section: Introductionmentioning

confidence: 99%

Polymorphism analysis of miR182 and CDKN2B genes in Greek patients with primary open angle glaucoma

et al. 2020

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Glaucoma is a progressive optic neuropathy resulting from retinal ganglion cells death; it represents one of the leading causes of irreversible blindness worldwide. Although, primary open angle glaucoma (POAG) is the most common type of the disease, the pathogenesis of POAG and the genetic factors contributing to disease development remain poorly understood. The aim of this study was to investigate whether the polymorphisms rs76481776 in miR182 gene and rs3217992 in cyclin-dependent kinase inhibitor-2B (CDKN2B) gene are risk factors for POAG in a series of patients of Greek origin. A case-control study was conducted including 120 patients with POAG and 113 unaffected healthy controls of Greek origin, surveyed for polymorphisms with potential correlation to POAG. DNA from each individual was tested for the miR182 rs76481776 and CDKN2B rs3217992 polymorphisms. Regarding the miR182 rs76481776 polymorphism, the T allele occurred with significantly higher frequency in POAG patients compared to controls (OR: 2.62, 95% CI: 1.56-4.39; p = 0.0002). The CDKN2B rs3217992 A allele frequency was found significantly increased in POAG patients compared to healthy individuals (OR: 1.72, 95% CI: 1.18-2.49; p = 0.005). Therefore, both rs76481776 polymorphism in miR182 gene and rs3217992 polymorphism in CDKN2B gene seem to be associated with the development of POAG in a Greek population. The carriers of the T allele of rs76481776 in miR182 and the carriers of the A allele of rs3217992 in CDKN2B have an increased risk of developing POAG.

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Mutational Analysis of Pre-miR-184 and hsa-mir-568 in Greek Patients With Sporadic Keratoconus

Abstract: Our results demonstrated a significant association between sporadic KC and hsa-mir-568 rs149509568 polymorphism, suggesting a potential role of the has-mir-568 in KC pathogenesis.

Cited by 9 publications

References 19 publications

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

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

Genomic strategies to understand causes of keratoconus

Polymorphism analysis of miR182 and CDKN2B genes in Greek patients with primary open angle glaucoma

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