The COL1A1 gene and high myopia susceptibility in Japanese

被引：0
作者：
Yumiko Inamori
Masao Ota
Hidetoshi Inoko
Eiichi Okada
Ritsuko Nishizaki
Tomoko Shiota
Jeewon Mok
Akira Oka
Shigeaki Ohno
Nobuhisa Mizuki
机构：
[1] Yokohama City University School of Medicine,Department of Ophthalmology
[2] Shinshu University School of Medicine,Department of Legal Medicine
[3] Tokai University School of Medicine,Department of Basic Medical Science and Molecular Medicine
[4] Okada Eye Clinic,Laboratory of Ophthalmology & Visual Science, Catholic Research Institutes of Medical Science College of Medicine
[5] The Catholic University of Korea,Department of Ophthalmology
[6] Hokkaido University School of Medicine,undefined
来源：
Human Genetics | 2007年 / 122卷
关键词：
Osteogenesis Imperfecta; Myopia; Refractive Error; Keratoconus; High Myopia;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
The collagen type Ι alpha Ι (COL1A1) gene encodes the extracellular matrix component, collagen, and resides in candidate MYP5 for high myopia on the chromosome 17q22–q23.3. This locus has recently been implicated in playing an important role in the pathogenesis of experimental myopia. We investigated the association of disruptions of COL1A1 gene with high myopia by analyzing the frequency of ten SNPs in a Japanese population of 330 subjects with high myopia of −9.25 D or less and 330 randomized controls without high myopia. Two SNPs (rs2075555 and rs2269336) were significantly associated with high myopia (P < 0.05, Pc < 0.1). Two different haplotype blocks in COL1A1 were observed by the pair-wise linkage disequilibrium between the SNPs. The frequency of GGC/GGC diplotype constructed by the three SNPs (rs2075555, rs2269336, rs1107946) was significantly high (OR = 1.6) and associated with high myopia (P = 0.028, Pc< 0.084). Together our results provide the first evidence for COL1A1 as a gene associated with high myopia.
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页码：151 / 157
页数：6
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