Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population. (June 2015)

• Record Type: Journal Article
• Authors: Hao, Xiao-Dan; Chen, Peng; Chen, Zhao-Li; Li, Su-Xia; Wang, Ye
• Is Part Of: Ophthalmic genetics. Volume 36:Number 2(2015:Jun.)
• Page Start: 132
• Page End: 136
• Publication Date: 2015-06
• Subjects: Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2015.1005317
• Languages: English
• ISSNs: 1381-6810

Abstract

<abstract> <title>ABSTRACT</title> <p> <italic>Background</italic>: Keratoconus (KC) is a complex degenerative disorder of the cornea. Genetic, environmental, and lifestyle factors may all contribute to the pathogenesis of KC. Most of the reported KC-associated SNPs have been detected in Caucasians and Australians. To investigate whether the reported associated SNPs can be found in a Chinese population, we performed a replication study of the significantly associated SNPs.</p> <p> <italic>Materials and Methods</italic>: A total of 210 unrelated Chinese KC patients and 191 unrelated controls were included in the present study. SNPs rs4954218 (Near <italic>RAB3GAP1</italic> (5′)), rs4894535 (<italic>FNDC3B</italic>), rs2956540 (<italic>LOX</italic>), rs3735520 (Near <italic>HGF</italic> (5′)), rs1324183 (<italic>MPDZ-NF1B</italic>), rs1536482 (<italic>RXRA-COL5A1</italic>), rs7044529 (<italic>COL5A1</italic>), rs2721051 (Near <italic>FOXO1</italic> (3′)), rs9938149 (<italic>BANP-ZNF469</italic>) and rs6050307 (<italic>VSX1</italic>) were assessed for their association with KC. The genotype of each SNP was detected using the Sequenom MassARRAY-Assay.</p> <p> <italic>Results</italic>: SNP rs1324183 located in <italic>MPDZ-NF1B</italic> was associated with an increased risk of KC (OR = 3.108, 95% CI = 1.366–7.072, <italic>p</italic> = 0.005), and SNP rs2956540 in the <italic>LOX</italic> gene may confer a reduced risk of KC with a borderline <italic>p</italic> value in our population (OR = 0.664, 95% CI = 0.447–0.986, <italic>p</italic> = 0.042). No significant difference was observed between patients and controls in the other eight SNP genotypes and allele frequencies.</p> <p> <italic>Conclusions</italic>: The replication association of rs1324183 (<italic>MPDZ-NF1B</italic>) with KC in our population and the results, which are identical to those in different populations, suggest that rs1324183 (<italic>MPDZ-NF1B</italic>) is a common genetic risk for KC and should be further investigated.</p> </abstract>