Skip to main content
Springer Nature Link
Log in

The COL1A1 gene and high myopia susceptibility in Japanese

  • Original Investigation
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Subscribe and save

Springer+ Basic
$34.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or eBook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  • Bear JC (1991) Epidemiology and genetics of refractive anomalies. In: Grosvenor T, Glom MC (eds) Refractive anomalies: research and clinical applications. Butterworth-Heinemann, Stoneham

    Google Scholar 

  • Burton TC (1989) The influence of refractive error and lattice degeneration on the incidence of retinal detachment. Trans Am Ophthalmol Soc 87:143–157

    PubMed  CAS  Google Scholar 

  • Curcio CA, Sloan KR, Packer O, Hendrickson AE, Kalina RE (1987) Distribution of cones in human and monkey retina: individual variability and radial asymmetry. Science 236:579–582

    Article  PubMed  CAS  Google Scholar 

  • Curtin BJ (1970) Myopia: a review of its etiology, pathogenesis, and treatment. Surv Ophthalmol 15:1–17

    Google Scholar 

  • Curtin BJ (1985) The myopias: basic science and clinical management. Harper & Row, Philadelphia

    Google Scholar 

  • Dalgleish R (1997) The human type I collagen mutation database. Nucleic Acids Res 25:181–187

    Article  PubMed  CAS  Google Scholar 

  • Feldkamper M, Schaeffel F (2003) Interactions of genes and environment in myopia. Dev Ophthalmol 37:34–49

    Article  PubMed  Google Scholar 

  • Gentle A, Liu Y, Martin JE, Conti GL, McBrien NA (2003) Collagen gene expression and the altered accumulation of scleral collagen during the development of high myopia. J Biol Chem 278:16587–16594

    Article  PubMed  CAS  Google Scholar 

  • Goss DA (2000) Nearwork and myopia. Lancet 356:1456–1457

    Article  PubMed  CAS  Google Scholar 

  • Goss DA, Hampton MJ, Wickham MG (1988) Selected review on genetic factors in myopia. J Am Optom Assoc 59:875–884

    PubMed  CAS  Google Scholar 

  • Hammond CJ, Andrew T, Mak YT, Spector TD (2004) A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins. Am J Hum Genet 75:294–304

    Article  PubMed  CAS  Google Scholar 

  • Katz J, Tielsch JM, Sommer A (1997) Prevalence and risk factors for refractive errors in an adult inner city population. Invest Ophthalmol Vis Sci 38:334–340

    PubMed  CAS  Google Scholar 

  • Leibowitz HM, Krueger DE, Maunder LR, Milton RC, Kini MM, Kahn HA, Nickerson RJ, Pool J, Colton TL, Ganley JP et al (1980) The Framingham Eye Study monograph: an ophthalmological and epidemiological study of cataract, glaucoma, diabetic retinopathy, macular degeneration, and visual acuity in a general population of 2631 adults, 1973–1975. Surv Ophthalmol 24:472–479

    Article  Google Scholar 

  • Marshall GE, Konstas AG, Lee WR (1993) Collagens in the aged human macular sclera. Curr Eye Res 12:143–153

    PubMed  CAS  Google Scholar 

  • Ministry of Education, Culture, Sports, Science and Technology (ed)(2004) Disease rate among students, statistical abstract

  • Mutti DO, Mitchell GL, Moeschberger ML, Jones LA, Zadnik K (2002) Parental myopia, near work, school achievement, and children’s refractive error. Invest Ophthalmol Vis Sci 43:3633–3640

    PubMed  Google Scholar 

  • Naiglin L, Gazagne C, Dallongeville F, Thalamas C, Idder A, Rascol O, Malecaze F, Calvas P (2002) A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36. J Med Genet 39:118–124

    Article  PubMed  CAS  Google Scholar 

  • Paluru PC, Ronan SM, Heon E, Devoto M, Wildenberg SC, Scavello G, Holleschau A, Makitie O, Cole WG, King RA et al (2003) New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci 44:1830–1836

    Article  PubMed  Google Scholar 

  • Paluru PC, Nallasamy S, Devoto M, Rappaport EF, Young TL (2005) Identification of a novel locus on 2q for autosomal dominant high-grade myopia. Invest Ophthalmol Vis Sci 46:2300–2307

    Article  PubMed  Google Scholar 

  • Rada JA, Shelton S, Norton TT (2006) The sclera and myopia. Exp Eye Res 82:185–200

    Article  PubMed  CAS  Google Scholar 

  • Saw SM, Katz J, Schein OD, Chew SJ, Chan TK (1996) Epidemiology of myopia. Epidemiol Rev 18:175–187

    PubMed  CAS  Google Scholar 

  • Saw SM, Chua WH, Hong CY, Wu HM, Chan WY, Chia KS, Stone RA, Tan D (2002) Nearwork in early-onset myopia. Invest Ophthalmol Vis Sci 43:332–339

    PubMed  Google Scholar 

  • Schwartz M, Haim M, Skarsholm D (1990) X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq. Clin Genet 38:281–286

    Article  PubMed  CAS  Google Scholar 

  • Stambolian D, Ibay G, Reider L, Dana D, Moy C, Schlifka M, Holmes T, Ciner E, Bailey-Wilson JE (2004) Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12. Am J Hum Genet 75:448–459

    Article  PubMed  CAS  Google Scholar 

  • Tamura Y, Konomi H, Sawada H, Takashima S, Nakajima A (1991) Tissue distribution of type VIII collagen in human adult and fetal eyes. Invest Ophthalmol Vis Sci 32:2636–2644

    PubMed  CAS  Google Scholar 

  • Tokoro T, Sato A (1982) Results of investigation of pathologic myopia in Japan: report of Myopic Chorioretinal Atrophy 1982, pp 32–35. Ministry of Health and Welfare, Tokyo

  • Wessel H, Anderson S, Fite D, Halvas E, Hempel J, SundarRaj N (1997) Type XII collagen contributes to diversities in human corneal and limbal extracellular matrices. Invest Ophthalmol Vis Sci 38:2408–2422

    PubMed  CAS  Google Scholar 

  • Wojciechowski R, Moy C, Ciner E, Ibay G, Reider L, Bailey-Wilson JE, Stambolian D (2006) Genomewide scan in Ashkenazi Jewish families demonstrates evidence of ocular refraction to a QTL on chromosome 1p36. Hum Genet 119:389–399

    Article  PubMed  Google Scholar 

  • Young TL, Ronan SM, Drahozal LA, Wildenberg SC, Alvear AB, Oetting WS, Atwood LD, Wilkin DJ, King RA (1998a) Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet 63:109–119

    Article  PubMed  CAS  Google Scholar 

  • Young TL, Ronan SM, Alvear AB, Wildenberg SC, Oetting WS, Atwood LD, Wilkin DJ, King RA (1998b) A second locus for familial high myopia maps to chromosome 12q. Am J Hum Genet 63:1419–1424

  • Zorn N, Hernandez MR, Norton TT, Yang J, Ye HO (1992) Collagen gene expression in the developing tree shrew sclera (ARVO Abstracts). Invest Ophthalmol Vis Sci 33:S1053

    Google Scholar 

  • Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik JF (2006) Novel locus for X linked recessive high myopia maps to Xq23–q25 but outside MYP1. J Med Genet 43:e20

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

This work was supported by the Health and Labour Sciences Research Grants in Japan and the Johnson & Johnson K.K. Vison Care Company.

Author information

Authors and Affiliations

  1. Department of Ophthalmology, Yokohama City University School of Medicine, Yokohama, Kanagawa, Japan

    Yumiko Inamori & Nobuhisa Mizuki

  2. Department of Legal Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matusmoto, Nagano, 390-8621, Japan

    Masao Ota

  3. Department of Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan

    Hidetoshi Inoko, Ritsuko Nishizaki, Tomoko Shiota, Jeewon Mok & Akira Oka

  4. Okada Eye Clinic, Yokohama, Kanagawa, Japan

    Eiichi Okada, Ritsuko Nishizaki & Tomoko Shiota

  5. Laboratory of Ophthalmology & Visual Science, Catholic Research Institutes of Medical Science College of Medicine, The Catholic University of Korea, Seoul, South Korea

    Jeewon Mok

  6. Department of Ophthalmology, Hokkaido University School of Medicine, Sapporo, Hokkaido, Japan

    Shigeaki Ohno

Authors
  1. Yumiko Inamori
    View author publications

    You can also search for this author inPubMed Google Scholar

  2. Masao Ota
    View author publications

    You can also search for this author inPubMed Google Scholar

  3. Hidetoshi Inoko
    View author publications

    You can also search for this author inPubMed Google Scholar

  4. Eiichi Okada
    View author publications

    You can also search for this author inPubMed Google Scholar

  5. Ritsuko Nishizaki
    View author publications

    You can also search for this author inPubMed Google Scholar

  6. Tomoko Shiota
    View author publications

    You can also search for this author inPubMed Google Scholar

  7. Jeewon Mok
    View author publications

    You can also search for this author inPubMed Google Scholar

  8. Akira Oka
    View author publications

    You can also search for this author inPubMed Google Scholar

  9. Shigeaki Ohno
    View author publications

    You can also search for this author inPubMed Google Scholar

  10. Nobuhisa Mizuki
    View author publications

    You can also search for this author inPubMed Google Scholar

Corresponding author

Correspondence to Masao Ota.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Inamori, Y., Ota, M., Inoko, H. et al. The COL1A1 gene and high myopia susceptibility in Japanese. Hum Genet 122, 151–157 (2007). https://doi.org/10.1007/s00439-007-0388-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00439-007-0388-1

Keywords