An association study of the COL1A1 gene and high myopia in a Han Chinese population

Molecular Vision

Volumn 17, Issue , 2011, Pages 3379-3383

  Zhang, Dingding ^a   Shi, Yi ^a   Gong, Bo ^a   He, Fei ^a   Lu, Fang ^a   Lin, He ^a   Wu, Zhengzheng ^a   Cheng, Jing ^a   Chen, Bin ^a   Liao, Shihuang ^a   Ma, Shi ^a   Hu, Jianbin ^a   Yang, Zhenglin ^a  

^a SICHUAN PROVINCIAL PEOPLE'S HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHINESE; COL1A1 GENE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MARKER GENE; MYOPIA; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; COLLAGEN TYPE I; EYE; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; MOLECULAR TYPING; MYOPIA; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84862945355     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (39)

1. Midelfart A, Midelfart S. Prevalence of refractive errors among adults in Europe. Arch Ophthalmol 2005; 123:580. [PMID: 15824247]
2. Kempen JH, Mitchell P, Lee KE, Tielsch JM, Broman AT, Taylor HR, Ikram MK, Congdon NG, O'Colmain BJ. The prevalence of refractive errors among adults in the United States, Western Europe, and Australia. Arch Ophthalmol 2004; 122:495-505. [PMID: 15078666]
3. Rose K, Smith W, Morgan I, Mitchell P. The increasing prevalence of myopia: implications for Australia. Clin Experiment Ophthalmol 2001; 29:116-20. [PMID: 11446448]
4. Sawada A, Tomidokoro A, Araie M, Iwase A, Yamamoto T. Refractive errors in an elderly Japanese population: the Tajimi study. Ophthalmology 2008; 115:363-70. [PMID: 18243904]
5. Wong TY, Foster PJ, Hee J, Ng TP, Tielsch JM, Chew SJ, Johnson GJ, Seah SK. Prevalence and risk factors for refractive errors in adult Chinese in Singapore. Invest Ophthalmol Vis Sci 2000; 41:2486-94. [PMID: 10937558]
6. Pan CW, Wong TY, Lavanya R, Wu RY, Zheng YF, Lin XY, Mitchell P, Aung T, Saw SM. Prevalence and risk factors for refractive errors in Indians: the Singapore Indian Eye Study (SINDI). Invest Ophthalmol Vis Sci 2011; 52:3166-73. [PMID: 21296814]
7. Liu HH, Xu L, Wang YX, Wang S, You QS, Jonas JB. Prevalence and progression of myopic retinopathy in Chinese adults: the Beijing Eye Study. Ophthalmology 2010; 117:1763-8. [PMID: 20447693]
8. He M, Zheng Y, Xiang F. Prevalence of myopia in urban and rural children in mainland China. Optom Vis Sci 2009; 86:40-4. [PMID: 19104465]
9. Zhang M, Li L, Chen L, Lee J, Wu J, Yang A, Chen C, Xu D, Lam DS, Sharma A, Griffiths S, Gao Y, Congdon N. Population density and refractive error among Chinese children. Invest Ophthalmol Vis Sci 2010; 51:4969-76. [PMID: 20445117]
10. Banker AS, Freeman WR. Retinal detachment. Ophthalmol Clin North Am 2001; 14:695-704. [PMID: 11787748]
11. Katz J, Tielsch JM, Sommer A. Prevalence and risk factors for refractive errors in an adult inner city population. Invest Ophthalmol Vis Sci 1997; 38:334-40. [PMID: 9040465]
12. Siegwart JT Jr, Norton TT. Perspective: how might emmetropization and genetic factors produce myopia in normal eyes? Optom Vis Sci 2011; 88:E365-72. [PMID: 21258261]
13. Mitry D, Williams L, Charteris DG, Fleck BW, Wright AF, Campbell H. Population-based estimate of the sibling recurrence risk ratio for rhegmatogenous retinal detachment. Invest Ophthalmol Vis Sci 2011; 52:2551-5. [PMID: 21245406]
14. Zhang J, Hur YM, Huang W, Ding X, Feng K, He M. Shared genetic determinants of axial length and height in children: the Guangzhou twin eye study. Arch Ophthalmol 2011; 129:63-8. [PMID: 21220630]
15. Khor CC, Fan Q, Goh L, Tan D, Young TL, Li YJ, Seielstad M, Goh DL, Saw SM. Support for TGFB1 as a susceptibility gene for high myopia in individuals of Chinese descent. Arch Ophthalmol 2010; 128:1081-4. [PMID: 20697017]
16. Teikari JM, O'Donnell J, Kaprio J, Koskenvuo M. Impact of heredity in myopia. Hum Hered 1991; 41:151-6. [PMID: 1937488]
17. Young TL. Molecular genetics of human myopia: an update. Optom Vis Sci 2009; 86:E8-22. [PMID: 19104467]
18. Young TL, Metlapally R, Shay AE. Complex trait genetics of refractive error. Arch Ophthalmol 2007; 125:38-48. [PMID: 17210850]
19. Wojciechowski R. Nature and nurture: the complex genetics of myopia and refractive error. Clin Genet 2011; 79:301-20. [PMID: 21155761]
20. Ciner E, Wojciechowski R, Ibay G, Bailey-Wilson JE, Stambolian D. Genomewide scan of ocular refraction in African-American families shows significant linkage to chromosome 7p15. Genet Epidemiol 2008; 32:454-63. [PMID: 18293391]
21. Yang Z, Xiao X, Li S, Zhang Q. Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia. Mol Vis 2009; 15:312-8. [PMID: 19204786]
22. Ma JH, Shen SH, Zhang GW, Zhao DS, Xu C, Pan CM, Jiang H, Wang ZQ, Song HD. Identification of a locus for autosomal dominant high myopia on chromosome 5p13.3-p15.1 in a Chinese family. Mol Vis 2010; 16:2043-54. [PMID: 21042559]
23. Shi Y, Qu J, Zhang D, Zhao P, Zhang Q, Tam PO, Sun L, Zuo X, Zhou X, Xiao X, Hu J, Li Y, Cai L, Liu X, Lu F, Liao S, Chen B, He F, Gong B, Lin H, Ma S, Cheng J, Zhang J, Chen Y, Zhao F, Yang X, Chen Y, Yang C, Lam DS, Li X, Shi F, Wu Z, Lin Y, Yang J, Li S, Ren Y, Xue A, Fan Y, Li D, Pang CP, Zhang X, Yang Z. Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population. Am J Hum Genet 2011; 88:805-13. [PMID: 21640322]
24. Shi Y, Li Y, Zhang D, Zhang H, Li Y, Lu F, Liu X, He F, Gong B, Cai L, Li R, Liao S, Ma S, Lin H, Cheng J, Zheng H, Shan Y, Chen B, Hu J, Jin X, Zhao P, Chen Y, Zhang Y, Lin Y, Li X, Fan Y, Yang H, Wang J, Yang Z. Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet 2011; 7:e1002084. [PMID: 21695231]
25. Frost MR, Norton TT. Differential protein expression in tree shrew sclera during development of lens-induced myopia and recovery. Mol Vis 2007; 13:1580-8. [PMID: 17893659]
26. Lin Z, Chen X, Ge J, Cui D, Wu J, Tang F, Tan J, Zhong X, Gao Q. Effects of direct intravitreal dopamine injection on sclera and retina in form-deprived myopic rabbits. J Ocul Pharmacol Ther 2008; 24:543-50. [PMID: 19049293]
27. Seko Y, Azuma N, Takahashi Y, Makino H, Morito T, Muneta T, Matsumoto K, Saito H, Sekiya I, Umezawa A. Human sclera maintains common characteristics with cartilage throughout evolution. PLoS ONE 2008; 3:e3709. [PMID: 19002264]
28. Wang Q, Zhao G, Xing S, Zhang L, Yang X. Role of bone morphogenetic proteins in form-deprivation myopia sclera. Mol Vis 2011; 17:647-57. [PMID: 21403850]
29. Paluru P, Ronan SM, Heon E, Devoto M, Wildenberg SC, Scavello G, Holleschau A, Makitie O, Cole WG, King RA, Young TL. New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci 2003; 44:1830-6. [PMID: 12714612]
30. Yang Z, Ke ZF, Zeng C, Wang Z, Shi HJ, Wang LT. Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta. Genet Mol Res 2011; 10:177-85. [PMID: 21341209]
31. Marijanović I, Radnic M, Matic I, Erceg-Ivkosic I. Osteogenesis imperfecta and achievements in cell and gene therapy. Acta Med Croatica 2010; 64:191-200. [PMID: 20922862]
32. McBrien NA, Gentle A. Role of the sclera in the development and pathological complications of myopia. Prog Retin Eye Res 2003; 22:307-38. [PMID: 12852489]
33. Inamori Y, Ota M, Inoko H, Okada E, Nishizaki R, Shiota T, Mok J, Oka A, Ohno S, Mizuki N. The COL1A1 gene and high myopia susceptibility in Japanese. Hum Genet 2007; 122:151-7. [PMID: 17557158]
34. Nakanishi H, Yamada R, Gotoh N, Hayashi H, Otani A, Tsujikawa A, Yamashiro K, Shimada N, Ohno-Matsui K, Mochizuki M, Saito M, Saito K, Iida T, Matsuda F, Yoshimura N. Absence of association between COL1A1 polymorphisms and high myopia in the Japanese population. Invest Ophthalmol Vis Sci 2009; 50:544-50. [PMID: 18836165]
35. Liang CL, Hung KS, Tsai YY, Chang W, Wang HS, Juo SH. Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia. J Hum Genet 2007; 52:374-7. [PMID: 17273809]
36. Metlapally R, Li YJ, Tran-Viet KN, Abbott D, Czaja GR, Malecaze F, Calvas P, Mackey D, Rosenberg T, Paget S, Zayats T, Owen MJ, Guggenheim JA, Young TL. COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. Invest Ophthalmol Vis Sci 2009; 50:4080-6. [PMID: 19387081]
37. Marshall GE, Konstas AG, Lee WR. Collagens in the aged human macular sclera. Curr Eye Res 1993; 12:143-53. [PMID: 8449025]
38. Yang Y, Li X, Yan N, Cai S, Liu X. Myopia: a collagen disease? Med Hypotheses 2009; 73:485-7. [PMID: 19616386]
39. McBrien NA, Jobling AI, Gentle A. Biomechanics of the sclera in myopia: extracellular and cellular factors. Optom Vis Sci 2009; 86:E23-30. [PMID: 19104466]