Replication study of significant single nucleotide polymorphisms associated with myopia from two genome-wide association studies

Molecular Vision

Volumn 17, Issue , 2011, Pages 3290-3299

  Wang, Qin ^a   Gao, Yang ^a   Wang, Panfeng ^a   Li, Shiqiang ^a   Jia, Xiaoyun ^a   Xiao, Xueshan ^a   Guo, Xiangming ^a   Zhang, Qingjiong ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CASE CONTROL STUDY; CHILD; CHINESE; COMPLEX MYOPIA; CONTROLLED STUDY; EARLY ONSET HIGH MYOPIA; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MYOPIA; PRESCHOOL CHILD; PRIORITY JOURNAL; REPLICATION STUDY; RISK ASSESSMENT; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 21; DNA MUTATIONAL ANALYSIS; EYE; FEMALE; GENE FREQUENCY; GENETIC LOCI; GENETIC TESTING; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; INFANT; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; MYOPIA; POLYMORPHISM, SINGLE NUCLEOTIDE; SEVERITY OF ILLNESS INDEX;

EID: 84862933872     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (54)

1. Ip JM, Huynh SC, Robaei D, Rose KA, Morgan IG, Smith W, Kifley A, Mitchell P. Ethnic differences in the impact of parental myopia: findings from a population-based study of 12-year-old Australian children. Invest Ophthalmol Vis Sci 2007; 48:2520-8. [PMID: 17525179]
2. Fan DS, Lam DS, Lam RF, Lau JT, Chong KS, Cheung EY, Lai RY, Chew SJ. Prevalence, incidence, and progression of myopia of school children in Hong Kong. Invest Ophthalmol Vis Sci 2004; 45:1071-5. [PMID: 15037570]
3. Choo V. A look at slowing progression of myopia. Lancet 2003; 361:1622-3. [PMID: 12747886]
4. Lam CS, Goldschmidt E, Edwards MH. Prevalence of myopia in local and international schools in Hong Kong. Optom Vis Sci 2004; 81:317-22. [PMID: 15181356]
5. Goh WS, Lam CS. Changes in refractive trends and optical components of Hong Kong Chinese aged 19-39 years. Ophthalmic Physiol Opt 1994; 14:378-82. [PMID: 7845695]
6. Bloom RI, Friedman IB, Chuck RS. Increasing rates of myopia: the long view. Curr Opin Ophthalmol 2010; 21:247-8. [PMID: 20489624]
7. Bar Dayan Y, Levin A, Morad Y, Grotto I, Ben-David R, Goldberg A, Onn E, Avni I, Levi Y, Benyamini OG. The changing prevalence of myopia in young adults: a 13-year series of population-based prevalence surveys. Invest Ophthalmol Vis Sci 2005; 46:2760-5. [PMID: 16043848]
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. Dirani M, Shekar SN, Baird PN. Adult-onset myopia: the Genes in Myopia (GEM) twin study. Invest Ophthalmol Vis Sci 2008; 49:3324-7. [PMID: 18408192]
10. Schwartz M, Haim M, Skarsholm D. X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq. Clin Genet 1990; 38:281-6. [PMID: 1980096]
11. Young TL, Ronan SM, Drahozal LA, Wildenberg SC, Alvear AB, Oetting WS, Atwood LD, Wilkin DJ, King RA. Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet 1998; 63:109-19. [PMID: 9634508]
12. Young TL, Ronan SM, Alvear AB, Wildenberg SC, Oetting WS, Atwood LD, Wilkin DJ, King RA. A second locus for familial high myopia maps to chromosome 12q. Am J Hum Genet 1998; 63:1419-24. [PMID: 9792869]
13. Naiglin L, Gazagne C, Dallongeville F, Thalamas C, Idder A, Rascol O, Malecaze F, Calvas P. A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36. J Med Genet 2002; 39:118-24. [PMID: 11836361]
14. 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]
15. Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik JF. A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612. Mol Vis 2005; 11:554-60. [PMID: 16052171]
16. Paluru PC, Nallasamy S, Devoto M, Rappaport EF, Young TL. Identification of a novel locus on 2q for autosomal dominant high-grade myopia. Invest Ophthalmol Vis Sci 2005; 46:2300-7. [PMID: 15980214]
17. Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik JF. Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1. J Med Genet 2006; 43:e20. [PMID: 16648373]
18. Nallasamy S, Paluru PC, Devoto M, Wasserman NF, Zhou J, Young TL. Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. Mol Vis 2007; 13:229-36. [PMID: 17327828]
19. Lam CY, Tam PO, Fan DS, Fan BJ, Wang DY, Lee CW, Pang CP, Lam DS. A genome-wide scan maps a novel high myopia locus to 5p15. Invest Ophthalmol Vis Sci 2008; 49:3768-78. [PMID: 18421076]
20. Nishizaki R, Ota M, Inoko H, Meguro A, Shiota T, Okada E, Mok J, Oka A, Ohno S, Mizuki N. New susceptibility locus for high myopia is linked to the uromodulin-like 1 (UMODL1) gene region on chromosome 21q22.3. Eye (Lond) 2009; 23:222-9. [PMID: 18535602]
21. Stambolian D, Ibay G, Reider L, Dana D, Moy C, Schlifka M, Holmes T, Ciner E, Bailey-Wilson JE. Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12. Am J Hum Genet 2004; 75:448-59. [PMID: 15273935]
22. Hammond CJ, Andrew T, Mak YT, Spector TD. 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 2004; 75:294-304. [PMID: 15307048]
23. Wojciechowski R, Moy C, Ciner E, Ibay G, Reider L, Bailey-Wilson JE, Stambolian D. Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36. Hum Genet 2006; 119:389-99. [PMID: 16501916]
24. 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]
25. Nürnberg G, Jacobi FK, Broghammer M, Becker C, Blin N, Nurnberg P, Stephani U, Pusch CM. Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping. Int J Mol Med 2008; 21:429-38. [PMID: 18360688]
26. Klein AP, Duggal P, Lee KE, Klein R, Bailey-Wilson JE, Klein BE. Confirmation of linkage to ocular refraction on chromosome 22q and identification of a novel linkage region on 1q. Arch Ophthalmol 2007; 125:80-5. [PMID: 17210856]
27. Zhang Q, Li S, Xiao X, Jia X, Guo X. Confirmation of a genetic locus for X-linked recessive high myopia outside MYP1. J Hum Genet 2007; 52:469-72. [PMID: 17351708]
28. Andrew T, Maniatis N, Carbonaro F, Liew SH, Lau W, Spector TD, Hammond CJ. Identification and replication of three novel myopia common susceptibility gene loci on chromosome 3q26 using linkage and linkage disequilibrium mapping. PLoS Genet 2008; 4:e1000220. [PMID: 18846214]
29. 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]
30. Nakanishi H, Yamada R, Gotoh N, Hayashi H, Yamashiro K, Shimada N, Ohno-Matsui K, Mochizuki M, Saito M, Iida T, Matsuo K, Tajima K, Yoshimura N, Matsuda F. A genomewide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1. PLoS Genet 2009; 5:e1000660. [PMID: 19779542]
31. Solouki AM, Verhoeven VJ, van Duijn CM, Verkerk AJ, Ikram MK, Hysi PG, Despriet DD, van Koolwijk LM, Ho L, Ramdas WD, Czudowska M, Kuijpers RW, Amin N, Struchalin M, Aulchenko YS, van Rij G, Riemslag FC, Young TL, Mackey DA, Spector TD, Gorgels TG, Willemse-Assink JJ, Isaacs A, Kramer R, Swagemakers SM, Bergen AA, van Oosterhout AA, Oostra BA, Rivadeneira F, Uitterlinden AG, Hofman A, de Jong PT, Hammond CJ, Vingerling JR, Klaver CC. A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet 2010; 42:897-901. [PMID: 20835239]
32. Hysi PG, Young TL, Mackey DA, Andrew T, Fernandez-Medarde A, Solouki AM, Hewitt AW, Macgregor S, Vingerling JR, Li YJ, Ikram MK, Fai LY, Sham PC, Manyes L, Porteros A, Lopes MC, Carbonaro F, Fahy SJ, Martin NG, van Duijn CM, Spector TD, Rahi JS, Santos E, Klaver CC, Hammond CJ. A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. Nat Genet 2010; 42:902-5. [PMID: 20835236]
33. Shi Y, 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]
34. Li Z, Qu J, Xu X, Zhou X, Zou H, Wang N, Li T, Hu X, Zhao Q, Chen P, Li W, Huang K, Yang J, He Z, Ji J, Wang T, Li J, Li Y, Liu J, Zeng Z, Feng G, He L, Shi Y. A genome-wide association study reveals association between common variants in an intergenic region of 4q25 and high-grade myopia in the Chinese Han population. Hum Mol Genet 2011; 20:2861-8. [PMID: 21505071]
35. Abdulla MA, Ahmed I, Assawamakin A, Bhak J, Brahmachari SK, Calacal GC, Chaurasia A, Chen CH, Chen J, Chen YT, Chu J, Cutiongco-de la Paz EM, De Ungria MC, Delfin FC, Edo J, Fuchareon S, Ghang H, Gojobori T, Han J, Ho SF, Hoh BP, Huang W, Inoko H, Jha P, Jinam TA, Jin L, Jung J, Kangwanpong D, Kampuansai J, Kennedy GC, Khurana P, Kim HL, Kim K, Kim S, Kim WY, Kimm K, Kimura R, Koike T, Kulawonganunchai S, Kumar V, Lai PS, Lee JY, Lee S, Liu ET, Majumder PP, Mandapati KK, Marzuki S, Mitchell W, Mukerji M, Naritomi K, Ngamphiw C, Niikawa N, Nishida N, Oh B, Oh S, Ohashi J, Oka A, Ong R, Padilla CD, Palittapongarnpim P, Perdigon HB, Phipps ME, Png E, Sakaki Y, Salvador JM, Sandraling Y, Scaria V, Seielstad M, Sidek MR, Sinha A, Srikummool M, Sudoyo H, Sugano S, Suryadi H, Suzuki Y, Tabbada KA, Tan A, Tokunaga K, Tongsima S, Villamor LP, Wang E, Wang Y, Wang H, Wu JY, Xiao H, Xu S, Yang JO, Shugart YY, Yoo HS, Yuan W, Zhao G, Zilfalil BA. Mapping human genetic diversity in Asia. Science 2009; 326:1541-5. [PMID: 20007900]
36. Wang Q, Wang P, Li S, Xiao X, Jia X, Guo X, Kong QP, Yao YG, Zhang Q. Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia. Mol Vis 2010; 16:303-9. [PMID: 20208987]
37. Shibuya K, Nagamine K, Okui M, Ohsawa Y, Asakawa S, Minoshima S, Hase T, Kudoh J, Shimizu N. Initial characterization of an uromodulin-like 1 gene on human chromosome 21q22.3. Biochem Biophys Res Commun 2004; 319:1181-9. [PMID: 15194491]
38. Di Schiavi E, Riano E, Heye B, Bazzicalupo P, Rugarli EI. UMODL1/Olfactorin is an extracellular membrane-bound molecule with a restricted spatial expression in olfactory and vomeronasal neurons. Eur J Neurosci 2005; 21:3291-300. [PMID: 16026467]
39. Xu GZ, Li WW, Tso MO. Apoptosis in human retinal degenerations. Trans Am Ophthalmol Soc 1996; 94:411-30. [PMID: 8981707]
40. Mao J, Liu S, Wen D, Tan X, Fu C. Basic fibroblast growth factor suppresses retinal neuronal apoptosis in formdeprivation myopia in chicks. Curr Eye Res 2006; 31:983-7. [PMID: 17114124]
41. Broustas CG, Gokhale PC, Rahman A, Dritschilo A, Ahmad I, Kasid U. BRCC2, a novel BH3-like domain-containing protein, induces apoptosis in a caspase-dependent manner. J Biol Chem 2004; 279:26780-8. [PMID: 15069058]
42. Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K. A comprehensive review of genetic association studies. Genet Med 2002; 4:45-61. [PMID: 11882781]
43. Rodriguez-Murillo L, Greenberg DA. Genetic association analysis: a primer on how it works, its strengths and its weaknesses. Int J Androl 2008; 31:546-56. [PMID: 18522673]
44. Zhao F, Bai J, Chen W, Xue A, Li C, Yan Z, Chen H, Lu F, Hu Y, Qu J, Zeng C, Zhou X. Evaluation of BLID and LOC399959 as candidate genes for high myopia in the Chinese Han population. Mol Vis 2010; 16:1920-7. [PMID: 21031016]
45. Wojciechowski R. Nature and nurture: the complex genetics of myopia and refractive error. Clin Genet 2011; 79:301-20. [PMID: 21155761]
46. Lin LL, Shih YF, Hsiao CK, Chen CJ. Prevalence of myopia in Taiwanese schoolchildren: 1983 to 2000. Ann Acad Med Singapore 2004; 33:27-33. [PMID: 15008558]
47. Saka N, Ohno-Matsui K, Shimada N, Sueyoshi S, Nagaoka N, Hayashi W, Hayashi K, Moriyama M, Kojima A, Yasuzumi K, Yoshida T, Tokoro T, Mochizuki M. Long-term changes in axial length in adult eyes with pathologic myopia. Am J Ophthalmol 2010; 150:562-8. [PMID: 20688315]
48. Low W, Dirani M, Gazzard G, Chan YH, Zhou HJ, Selvaraj P, Au Eong KG, Young TL, Mitchell P, Wong TY, Saw SM. Family history, near work, outdoor activity, and myopia in Singapore Chinese preschool children. Br J Ophthalmol 2010; 94:1012-6. [PMID: 20472747]
49. Tsai MY, Lin LL, Lee V, Chen CJ, Shih YF. Estimation of heritability in myopic twin studies. Jpn J Ophthalmol 2009; 53:615-22. [PMID: 20020241]
50. 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]
51. Zylbermann R, Landau D, Berson D. The influence of study habits on myopia in Jewish teenagers. J Pediatr Ophthalmol Strabismus 1993; 30:319-22. [PMID: 8254449]
52. Tan CS, Chan YH, Wong TY, Gazzard G, Niti M, Ng TP, Saw SM. Prevalence and risk factors for refractive errors and ocular biometry parameters in an elderly Asian population: the Singapore Longitudinal Aging Study (SLAS). Eye (Lond) 2011; 25:1294-301. [PMID: 21720418]
53. Shimizu N, Nomura H, Ando F, Niino N, Miyake Y, Shimokata H. Refractive errors and factors associated with myopia in an adult Japanese population. Jpn J Ophthalmol 2003; 47:6-12. [PMID: 12586171]
54. Sherwin JC, Kelly J, Hewitt AW, Kearns LS, Griffiths LR, Mackey DA. Prevalence and predictors of refractive error in a genetically isolated population: the Norfolk Island Eye Study. Clin Experiment Ophthalmol 2011; 39:734-42. [PMID: 21631679]