A single nucleotide polymorphism analysis of the LAMA1 gene in Japanese patients with high myopia

Sayaka Sasaki¹, Masao Ota², Akira Meguro¹, Ritsuko Nishizaki³, Eiichi Okada³, Jeewon Mok^4,5, Tetusya Kimura⁴, Akira Oka⁴, Yoshihiko Katsuyama⁶, Shigeaki Ohno⁷, Hidetoshi Inoko⁴, Nobuhisa Mizuki¹

¹Department of Ophthalmology, Yokohama City University School of Medicine; ²Department of Legal Medicine, Shinsyu University School of Medicine, Matsumoto, Nagano, Japan; ³Okada Eye Clinic, Yokohama, Kanagawa, Japan; ⁴Department of Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan; ⁵Laboratory of Ophthalmology and Visual Science, Catholic Research Institutes of Medical Science College of Medicine, The Catholic University of Korea, Seoul, Korea; ⁶Department of Pharmacy, Shinsayu University Hospital, Matsumoto, Nagano, Japan; ⁷Department of Ophthalmology, Hokkaido University School of Medicine, Sapporo, Hokkaido, Japan

Abstract: Although a myopia susceptibility gene has not yet been elucidated, ten candidate regions (MYP1–MYP10) have been associated with myopia by linkage analysis employing large pedigrees. We report herein on the results of our analysis pertaining to polymorphisms of LAMA1 (alpha subunit of laminin), a promising candidate gene for high myopia present in the MYP2 region of Japanese subjects with high myopia. Three hundred and thirty Japanese subjects with high myopia at a level of greater than −9.25 D and ethnically and sex matched 330 normal controls without high myopia was enrolled in this study. The thirteen SNPs located on the LAMA1 gene were analyzed using PCR and SNP-specific fluorogenic probes. Two of the SNPs were monomorphic and none of the 11 SNPs showed statistically significant association with high myopia in the Japanese population. There is no convincing evidence to prove a connection between nucleotide sequence variations in LAMA1 and high myopia. The pairwise linkage disequilibrium (LD) mapping disclosed a strong value (D' > 0.8) and narrow ranged block within these SNPs.