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Ai Shimizu, Nobuo Fuse, Yoshimasa Takano, Don Shi, Xiaodong Zheng, Atsushi Shiraishi, Yuichi Ohashi, Toru Nakazawa; Evaluation for CNTNAP2 Gene Polymorphisms for Exfoliation Syndrome in Japanese. Invest. Ophthalmol. Vis. Sci. 2012;53(14):4503.
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© ARVO (1962-2015); The Authors (2016-present)
To screen contactin-associated protein-like 2 (CNTNAP2) gene for single-nucleotide polymorphisms (SNPs) variations in Japanese patients with exfoliation syndrome (XFS).
108 unrelated Japanese patients with XFS, including 85 patients with XFG, and 199 ethnically-matched normal controls were studied. Genomic DNA was extracted from the leukocytes of the peripheral blood, and the eight SNPs at CNTNAP2 locus (rs826802, rs1404699, rs7803992, rs700308, rs4725736, rs2107856, rs2141388 and rs6970064) were amplified by polymerase chain reaction (PCR), directly sequenced, and genotyped.
The allele frequencies of rs1404699 and rs7803992 were statistically significant (minor allele frequency (MAF) 0.412 vs. 0.307; P = 8.57XE-3, 0.394 vs. 0.259; P = 5.43XE-4, respectively). These genotype frequencies in the XFS group were significantly higher than those in the control group (P = 0.020 and 1.8XE-3). While the allele frequencies of rs2107856 and rs2141388 were statistically significant in the previous study, our study suggested no significantly difference betwen the XFS group and the control group (MAF; 0.450 vs. 0.432; P = 0.687, 0.444 vs. 0.437; P = 0.863, respectively). Those genotype frequencies were not significantly different between the two groups (P = 0.091 and 0.10).
The variants of CNTNAP2 rs1404699 and rs7803992 would be associated with XFS in the Japanese population. This data may contribute to the early diagnostic method and the pathophysiology.
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