Background: Keratoconus (KC) is a complex, non-inflammatory corneal degenerative disease. Although numerous studies have analyzed the correlation of SNP rs1324183, which located in MPDZ-NF1B gene, and KC in different populations, only few findings were repeated. In this study, to evaluate the association between rs1324183 and KC in a new independent Chinese population, we performed a replication study of the significantly associated rs1324183.
Methods: In total of 114 unrelated KC patients and 88 unrelated controls were recruited from Ningxia, China. We detected the genotypes and alleles of rs1324183 using PCR technology and Sanger sequencing and also analyzed the association between this locus and KC, its clinical parameters by statistical methods.
Results: The frequency of genotype AA (11, 9.6%) and genotypes containing allele A (47, 41.2%) of rs1324183 in KC were both higher than those of the control group. And genotype AA of rs1324183 conferred a higher risk of KC (OR > 1). Moreover, corneal parameter Belin/Ambrósio enhanced ectasia display final D value (BAD-D) had significant correlation (p = 0.002) with AA genotype of rs1324183 in KC.
Conclusions: Our replication study indicates that the results of rs1324183 associated with KC in our population is robust and further better illustrates the significance of BAD-D as a diagnostic indicator for KC. rs1324183 should be considered as the first genetic mark of KC risk in its future diagnosis.
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http://dx.doi.org/10.1186/s12886-022-02359-1 | DOI Listing |
BMC Ophthalmol
March 2022
Ningxia Clinical Research Center of Blinding Eye Disease, People Hospital of Ningxia Hui Autonomous Region (People's Hospital of Autonomous Region Affiliated to Ningxia Medical University), No 936, Huanghe East Road, Jinfeng District, Yinchuan, 750001, Ningxia, China.
Background: Keratoconus (KC) is a complex, non-inflammatory corneal degenerative disease. Although numerous studies have analyzed the correlation of SNP rs1324183, which located in MPDZ-NF1B gene, and KC in different populations, only few findings were repeated. In this study, to evaluate the association between rs1324183 and KC in a new independent Chinese population, we performed a replication study of the significantly associated rs1324183.
View Article and Find Full Text PDFBMC Ophthalmol
October 2021
Department of Anterior Segment Transplant and Optical Reconstructive Surgery, S. Fyodorov Eye Microsurgery Complex Federal State Institution, 59a Beskudnikovskiy Blv, Moscow, Russian Federation, 127486.
Background: Keratoconus is a chronic degenerative disorder of the cornea characterized by thinning and cone-shaped protrusions. Although genetic factors play a key role in keratoconus development, the etiology is still under investigation. The occurrence of single-nucleotide polymorphisms (SNPs) associated with keratoconus in Russian patients is poorly studied.
View Article and Find Full Text PDFBiomed Khim
January 2019
Fyodorov Eye Microsurgery Complex Federal State Institution, Moscow, Russia.
Keratoconus is a chronic disorder of the cornea, characterized by its progressive thinning, stretching, and conical protrusion. Diagnostics of subclinical keratoconus, as well as its early stages (forme fruste), is a complex problem. The presence of these forms of keratoconus in a patient is one of the reasons for the development of keratectasia after laser refractive surgery.
View Article and Find Full Text PDFBr J Ophthalmol
December 2018
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China
Objective: To investigate the associations between 16 single-nucleotide polymorphisms (SNPs) in 14 genetic loci and keratoconus in an independent Chinese cohort.
Methods: This cross-sectional, case-control association study included a Chinese cohort of 133 patients with keratoconus and 371 control subjects. In a recent meta-analysis study, we identified association of 16 SNPs in 14 gene loci with keratoconus.
PLoS One
September 2017
KCL Department of Ophthalmology, King's College London and Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Introduction: Keratoconus is a relatively frequent disease leading to severe visual impairment. Existing therapies are imperfect and clinical management may benefit from improved understanding of mechanisms leading to this disease. We aim to investigate the replication of 11 single nucleotide polymorphisms (SNPs) with keratoconus.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!