Association of Interleukin-1 Gene Single Nucleotide Polymorphisms with Keratoconus in Chinese Han Population

Wang, Yani; Wei, Wei; Zhang, Changning; Zhang, Xuehui; Liu, Ming; Xu, Kun

doi:10.3109/02713683.2015.1045083

Cited by 19 publications

(12 citation statements)

References 27 publications

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“…Due to that, widely brought up in a literature issue, of the coexistence of the rosacea and the keratoconus, seems to be especially interesting. Currently numerous studies, aiming at description of a polymorphism for Il-1β gene present in patients with KC, are being conducted worldwide [23,24,25,26,27]. Results obtained in our study reveal decrease in IL-1 concentrations after CXL, what may stand for the efficacy of the CXL procedure in keratoconus treatment.…”

Section: Discussionsupporting

confidence: 60%

Influence of the Corneal Collagen Cross-linking on Levels of Il- 1b, Il-6, Il-10 and MMP-2 in the Tear film of Patients with Keratoconus.

Krycia¹,

Wyględowska-Promieńska²,

Kulesza³

2017

THE IJES

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Section: Discussionsupporting

confidence: 60%

Influence of the Corneal Collagen Cross-linking on Levels of Il- 1b, Il-6, Il-10 and MMP-2 in the Tear film of Patients with Keratoconus.

Krycia¹,

Wyględowska-Promieńska²,

Kulesza³

2017

THE IJES

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“…The association was replicated in 115 Han Chinese patients and 101 healthy controls, with significance for −31*C, P > 0.001, OR = 2.86, and P = 0.002, OR = 2.4 for −511*T. SNP IL1A rs2071376 also showed association with P = 0.017, OR = 1.97. The respective ACA haplotype of these 3 promoter SNPs was found to contribute a high risk in this Chinese cohort, P < 0.001, OR = 12.91 [112]. Such statistical significance shows a link of IL1A and IL1B with keratoconus, and the reported associations are more consistent than other candidate genes.…”

Section: Il1a and Il1bsupporting

confidence: 55%

Molecular Genetics of Keratoconus: Clinical Implications

Wang¹,

Pang²

2021

Ocular Surface Diseases - Some Current Date on Tear Film Problem and Keratoconic Diagnosis

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Occurrence of keratoconus is pan-ethnic with reported prevalence ranging widely from 1:400 to about 1:8000, higher in Asian than Western populations. Its genetics is complex with undefined pattern of inheritance. Familial traits are also known. More than 50 gene loci and 200 variants are associated with keratoconus, some through association studies with quantitative traits of cornea features including curvature and central thickness. Environmental, behavioral, and epigenetic factors are also involved in the etiology, likely interactively with genetic susceptibility. Regardless of sex and age of disease onset, clinical courses and responses to treatment vary. Keratoconus is a major cause of cornea transplantation and is potentially blinding. Currently collagen cross-linking provides effective treatment although responses from some patients can be unpredictable with complications. Early diagnosis is vital to obtain good treatment outcome, but in many patients early signs and symptoms are not obvious. While there are potential biomarkers, reliable presymptomatic detection and prediction of treatment response may require multitude of gene variants, cornea properties, and external risk factors.

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“…IL1B (interleukin 1 beta) promoter polymorphisms and IL1A (interleukin 1 alpha) intronic polymorphism rs2071376 have been suggested to play roles in KC susceptibility due to significant differences in allelic frequency between groups of KC patients and controls in Han Chinese [ 91 , 119 ], Korean [ 120 ], and Japanese [ 121 ] populations. However, the same polymorphism showed no evidence of association in the Turkish population [ 122 ].…”

Section: Other Potentially Involved Genesmentioning

confidence: 99%

Genetics in Keratoconus: where are we?

2016

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Keratoconus (KC) is a non-inflammatory thinning and protrusion of the cornea in which the cornea assumes a conical shape. Complex etiology of this condition at present remains an enigma. Although environmental factors have been involved in KC pathogenesis, strong underlining genetic susceptibility has been proven. The lack of consistent findings among early genetic studies suggested a heterogeneity and complex nature of the genetic contribution to the development of KC. Recently, genome-wide linkage studies (GWLS) and genome-wide association studies (GWAS) were undertaken. Next-generation sequencing (NGS)-based genomic screens are also currently being carried out. Application of these recently developed comprehensive genetic tools led to a much greater success and increased reproducibility of genetic findings in KC. Involvement of the LOX gene identified through GWLS has been confirmed in multiple cohorts of KC patients around the world. KC susceptibility region located at the 2q21.3 chromosomal region near the RAB3GAP1 gene identified through GWAS was independently replicated. Rare variants in the ZNF469 gene (mutated in corneal dystrophy Brittle Cornea Syndrome) and in the TGFBI gene (mutated in multiple corneal epithelial–stromal TGFBI dystrophies) have been repeatedly identified in familial and sporadic KC patients of different ethnicities. Additional comprehensive strategies using quantitative endophenotypes have been successfully employed to bring further understanding to the genetics of KC. Additional genetic determinants including the COL5A1 gene have been identified in the GWAS of KC-related trait central corneal thickness. These recent discoveries confirmed the importance of the endophenotype approach for studying complex genetic diseases such as KC and showed that different connective tissue disorders may have the same genetic determinants.

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Association of Interleukin-1 Gene Single Nucleotide Polymorphisms with Keratoconus in Chinese Han Population

Cited by 19 publications

References 27 publications

Influence of the Corneal Collagen Cross-linking on Levels of Il- 1b, Il-6, Il-10 and MMP-2 in the Tear film of Patients with Keratoconus.

Influence of the Corneal Collagen Cross-linking on Levels of Il- 1b, Il-6, Il-10 and MMP-2 in the Tear film of Patients with Keratoconus.

Molecular Genetics of Keratoconus: Clinical Implications

Genetics in Keratoconus: where are we?

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