Common Single Nucleotide Polymorphisms and Keratoconus in the Han Chinese Population

ABSTRACT

Objective: To investigate whether the tag single nucleotide polymorphisms (tSNPs) in VSX1, COL4A3, COL4A4, IL1A and IL1B genes were associated with keratoconus (KTCN) in the Han Chinese population.

Methods: Ninety-seven KTCN patients and 101 healthy controls were enrolled in this study. All cases were diagnosed on the basis of clinical examination. Twenty-one tSNPs were selected for association study in five genes. SNP genotyping was performed by Sequenom MassARRAY RS1000. Sequenom Typer 4.0 Software, PLINK, Haploview and SHEsis software platform were used to perform data management and analyses.

Results: Three tSNPs in the VSX1 gene were observed to be associated with KTCN risk at a 5% level by χ² test (rs56157240 and rs12480307, p = 0.0499, OR: 6.42, 95% CI: 0.77–53.78; rs6050307, p = 1.22 × 10⁻⁷, OR: 0.05, 95% CI: 0.01–0.23). Rs2071376 in the IL1A gene was also associated with KTCN (p = 0.0487, OR: 1.51, 95% CI: 1.00–2.26). Three haplotypes in the VSX1 gene were found to be associated with risk of KTCN (p < 0.05).

Conclusions: Our findings confirmed previous reports that polymorphisms of VSX1 and IL1A genes were associated with risk of KTCN in the Chinese population, suggesting an important determinant of KTCN development by VSX1 and IL1A genes.

• Case–control study
• IL1A
• keratoconus
• single nucleotide polymorphism
• VSX1

ACKNOWLEDGEMENTS

The authors wish to thank all participants who made this work possible. We would also like to thank the clinicians and other hospital staff who contributed to the blood samples and data collection for this study.

Foundation item: Shaanxi provincial health bureau project (No. 2010D28).

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.