Common Single Nucleotide Polymorphisms and Keratoconus in the Han Chinese Population

• Published in: Ophthalmic genetics 2013-09, Vol.34 (3), p.160-166
• Main Authors: Wang, Yani, Jin, Tianbo, Zhang, Xuehui, Wei, Wei, Cui, Yan, Geng, Tingting, Liu, Qianping, Gao, Jing, Liu, Ming, Chen, Chao, Zhang, Changning, Zhu, Xiuping
• Format: Article
• Language: English
• Subjects: Asian Continental Ancestry Group - genetics; Autoantigens - genetics; Case-Control Studies; Case-control study; China - epidemiology; Collagen Type IV - genetics; DNA Primers - chemistry; Eye Proteins - genetics; Female; Genotyping Techniques; Haplotypes; Homeodomain Proteins - genetics; Humans; IL1A; Interleukin-1alpha - genetics; Interleukin-1beta - genetics; keratoconus; Keratoconus - diagnosis; Keratoconus - genetics; Male; Polymorphism, Single Nucleotide; Risk Factors; single nucleotide polymorphism; VSX1; Young Adult
• ISSN: 1381-6810; 1744-5094
• DOI: 10.3109/13816810.2012.743569

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