Titre du document / Document title

The COL1A1 gene and high myopia susceptibility in Japanese

Auteur(s) / Author(s)

INAMORI Yumiko ⁽¹⁾ ; OTA Masao ⁽²⁾ ; INOKO Hidetoshi ⁽³⁾ ; OKADA Eiichi ⁽⁴⁾ ; NISHIZAKI Ritsuko ⁽⁴⁾ ; SHIOTA Tomoko ^{(3 4)} ; MOK Jeewon ^{(3 5)} ; OKA Akira ⁽³⁾ ; OHNO Shigeaki ^{(3 6)} ; MIZUKI Nobuhisa ⁽¹⁾ ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ Department of Ophthalmology, Yokohama City University School of Medicine, Yokohama, Kanagawa, JAPON
⁽²⁾ Department of Legal Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matusmoto, Nagano 390-8621, JAPON
⁽³⁾ Department of Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Isehara, Kanagawa, JAPON
⁽⁴⁾ Okada Eye Clinic, Yokohama, Kanagawa, JAPON
⁽⁵⁾ Laboratory of Ophthalmology & Visual Science, Catholic Research Institutes of Medical Science College of Medicine, The Catholic University of Korea, Seoul, COREE, REPUBLIQUE DE
⁽⁶⁾ Department of Ophthalmology, Hokkaido University School of Medicine, Sapporo, Hokkaido, JAPON

Résumé / Abstract

The collagen type I alpha I (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.

Revue / Journal Title

Human genetics   ISSN 0340-6717   CODEN HUGEDQ 

Source / Source

2007, vol. 122, n^o2, pp. 151-157 [7 page(s) (article)] (3/4 p.)

Langue / Language

Anglais

Editeur / Publisher

Springer, Berlin, ALLEMAGNE  (1976) (Revue)

Mots-clés anglais / English Keywords

Vision disorder ; Refractive error ; Eye disease ; High myopia ; Genetics ; Japanese ; Gene ;

Mots-clés français / French Keywords

Trouble de la vision ; Trouble de la réfraction oculaire ; Pathologie de l'oeil ; Association génétique ; Myopie grave ; Génétique ; Japonais ; Gène ;

Mots-clés espagnols / Spanish Keywords

Trastorno visión ; Trastorno refracción ocular ; Ojo patología ; Miopía grave ; Genética ; Japonés ; Gen ;

Localisation / Location

INIST-CNRS, Cote INIST : 2672, 35400017446585.0040