Associations between CRYBA4 gene variants and high myopia in a Japanese population
Received 11 July 2017
Accepted for publication 9 October 2017
Published 7 December 2017 Volume 2017:11 Pages 2151—2156
Checked for plagiarism Yes
Review by Single-blind
Peer reviewer comments 2
Editor who approved publication: Dr Scott Fraser
Tatsukata Kawagoe,1 Masao Ota,1,2 Akira Meguro,1 Masaki Takeuchi,1 Takahiro Yamane,1 Haruna Shimazaki,3 Masaru Takeuchi,3 Eiichi Okada,4 Takeshi Teshigawara,1,5,6 Nobuhisa Mizuki1
1Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, 2Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, Matsumoto, 3Department of Ophthalmology, National Defense Medical College, Tokorozawa, 4Okada Eye Clinic, Yokohama, 5Yokosuka Chuoh Eye Clinic, Yokosuka, 6Tsurumi Chuoh Eye Clinic, Yokohama, Japan
Purpose: The crystallin beta A4 (CRYBA4) gene variant, rs2009066, was previously reported to be associated with high myopia in a southern Chinese population. In the present study, we investigated whether CRYBA4 variants were associated with high myopia in a Japanese population.
Methods: We recruited 1,063 Japanese patients with high myopia (spherical equivalent [SE] ≤–9.00 D in both eyes) and 1,009 healthy Japanese subjects (SE >–1.00 D). We genotyped rs2009066 and three tagging single-nucleotide polymorphisms (SNPs), rs16982456, rs2071861, and rs4276, in the CRYBA4 region.
Results: We did not find any significant association between these four SNPs and high myopia in an allele analysis. However, rs2009066 and rs2071861, which were in strong linkage disequilibrium (LD; r2=0.86), showed a marginal association with high myopia in the recessive genotype model of risk alleles (rs2009066 G allele: P=0.032, odds ratio [OR] =1.31; rs2071861 A allele: P=0.037, OR =1.31). Nevertheless, this association became insignificant after correcting for multiple testing (Pc >0.05).
Conclusion: This study showed no significant association between CRYBA4 variants and high myopia in a Japanese population. Our findings did not correspond with a previous study. Further genetic studies with other populations are needed to elucidate a potential contribution of the CRYBA4 region in the development of high myopia.
Keywords: high myopia, CRYBA4, association study, polymorphism
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