An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error

Molecular Vision

Volumn 18, Issue , 2012, Pages 720-729

  Abbott, Diana ^a   Li, Yi Ju ^a   Guggenheim, Jeremy A ^b   Metlapally, Ravikanth ^a,c   Malecaze, Francois ^d   Calvas, Patrick ^d   Rosenberg, Thomas ^e   Paget, Sandrine ^d   Zayats, Tetyana ^b,f   Mackey, David A ^f   Feng, Sheng ^a   Young, Terri L ^a,c  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c DUKE UNIVERSITY EYE CENTER   (United States)

^d TOULOUSE UNIVERSITY HOSPITAL   (France)

^e National Eye Clinic   (Denmark)

^f UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHROMOSOME 3Q; CHROMOSOME 5Q; CHROMOSOME 6Q; CHROMOSOME 7Q; COHORT ANALYSIS; FAMILY ASSESSMENT; FEMALE; GENE; GENE LOCUS; GENETIC LINKAGE; GENETIC MARKER; GENETIC RISK; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MYOPIA; MYP12 GENE; MYP14 GENE; MYP16 GENE; MYP3 GENE; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS;

ADULT; AUSTRALIA; BIOLOGICAL MARKERS; CHROMOSOMES, HUMAN; COHORT STUDIES; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC LINKAGE; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTERNATIONAL COOPERATION; LOD SCORE; MALE; MIDDLE AGED; MYOPIA; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI; REFRACTIVE ERRORS; UNITED STATES;

EID: 84859454388     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (41)

1. Kempen JH, Mitchell P, Lee KE, Tielsch JM, Broman AT, Taylor HR, Ikram MK, Congdon NG, O'Colmain BJ, Eye Diseases Prevalence Research Group. The prevalence of refractive errors among adults in the United States, Western Europe, and Australia. Arch Ophthalmol 2004; 122:495-505.
2. Wensor M, McCarty CA, Taylor HR. Prevalence and risk factors of myopia in Victoria, Australia. Arch Ophthalmol 1999; 117:658-63.
3. 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.
4. Vitale S, Sperduto D, Ferris FL. Increased prevalence of myopia in the United States Between 1971-1972 and 1999-2004. Arch Ophthalmol 2009; 127:1632-9.
5. Lam CS, Goldschmidt E, Edwards MH. Prevalence of myopia in local and international schools in Hong Kong. Optom Vis Sci 2004; 81:317-22.
6. Woo WW, Lim KA, Yang H, Lim XY, Liew F, Lee YS, Saw SM. Refractive errors in medical students in Singapore. Singapore Med J 2004; 45:470-4.
7. Hornbeak DM, Young TL. Myopia genetics: a review of current research and emerging trends. Curr Opin Ophthalmol 2009; 20:356-62.
8. Curtin BJ. The Myopias: Basic Science and Clinical Management. Philadelphia: Harper & Row; 1985.
9. Goss DA, Winkler RL. Progression of myopia in youth: age of cessation. Am J Optom Physiol Opt 1983; 60:651-8.
10. Ghafour IM, Allan D, Foulds WS. Common causes of blindness and visual handicap in the west of Scotland. Br J Ophthalmol 1983; 67:209-13.
11. Pararajasegaram R. VISION 2020-the right to sight: from strategies to action. Am J Ophthalmol 1999; 128:359-60.
12. Tokoro T, Sato A. Results of investigation of pathologic myopia in Japan. Report of myopic chorioretinal atrophy. Ministry of Health and Welfare Tokyo. 1982;32-35.
13. Saw SM, Gazzard G, Shih-Yen EC, Chau WH. Myopia and associated pathological complications. Ophthalmic Physiol Opt 2005; 25:381-91.
14. Teikari JM, O'Donnell J, Kaprio J, Koskenvuo M. Impact of heredity in myopia. Hum Hered 1991; 41:151-6.
15. Sorsby A, Sheriden M, Leary GA. Refraction and its components in twins. Spec. Rep. Ser. Med. Res. Coun., Lond., no. 303, H.M.S.O. 1962.
16. Sorsby A, Leary GA, Fraser GR. Family studies on ocular refraction and its components. J Med Genet 1966; 3:269-73.
17. Lyhne N, Sjolie AK, Kyvik KO, Green A. The importance of genes and environment for ocular refraction and its determiners: a population based study among 20-45 year old twins. Br J Ophthalmol 2001; 85:1470-6.
18. Hammond CJ, Snieder H, Gilbert CE, Spector TD. Genes and environment in refractive error: the twin eye study. Invest Ophthalmol Vis Sci 2001; 42:1232-6.
19. Guggenheim JA, Kirov G, Hodson SA. The heritability of high myopia: a reanalysis of Goldschmidt's data. J Med Genet 2000; 37:227-31.
20. Farbrother JE, Kirov G, Owen MJ, Guggenheim JA. Family aggregation of high myopia: estimation of the sibling recurrence risk ratio. Invest Ophthalmol Vis Sci 2004; 45:2873-8.
21. 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.
22. 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.
23. Wojciechowski R, Stambolian D, Ciner E, Ibay G, Holmes TN, Bailey-Wilson JE. Genomewide linkage scans for ocular refraction and meta-analysis of four populations in the Myopia Family Study. Invest Ophthalmol Vis Sci 2009; 50:2024-32.
24. Wojciechowski R, Bailey-Wilson JE, Stambolian D. Finemapping of candidate region in Amish and Ashkenazi families confirms linkage of refractive error to a QTL on 1p34-p36. Mol Vis 2009; 15:1398-406.
25. Stambolian D, Ibay G, Reider L, Dana D, Moy C, Schlifka M, Holmes TN, Ciner E, Bailey-Wilson JE. Genome-wide scan of additional Jewish families confirms linkage of a myopia susceptibility locus to chromosome 22q12. Mol Vis 2006; 12:1499-505.
26. Ciner E, Ibay G, Wojciechowski R, Dana D, Holmes TN, Bailey-Wilson JE, Stambolian D. Genome-wide scan of African-American and White families for linkage to myopia. Am J Ophthalmol 2009; 147:512-7.
27. Stambolian D, Ciner EB, Reider LC, Moy C, Dana D, Owens R, Schlifka M, Holmes T, Ibay G, Bailey-Wilson JE. Genome-wide scan for myopia in the Old Order Amish. Am J Ophthalmol 2005; 140:469-76.
28. Farbrother JE, Kirov G, Owen MJ, Pong-Wong R, Haley CS, Guggenheim JA. Linkage analysis of the genetic loci for high myopia on 18p, 12q, and 17q in 51 U.K. families. Invest Ophthalmol Vis Sci 2004; 45:2879-85.
29. Li YJ, Guggenheim JA, Bulusu A, Metlapally R, Abbott D, Malecaze F, Calvas P, Rosenberg T, Paget S, Creer RC, Kirov G, Owen MJ, Zhao B, White T, Mackey DA, Young TL. An international collaborative family-based whole-genome linkage scan for high-grade myopia. Invest Ophthalmol Vis Sci 2009; 50:3116-27.
30. Boehnke M, Cox NJ. Accurate inference of relationships in sibpair linkage studies. Am J Hum Genet 1997; 61:423-9.
31. Epstein MP, Duren WL, Boehnke M. Improved inference of relationship for pairs of individuals. Am J Hum Genet 2000; 67:1219-31.
32. McPeek MS, Sun L. Statistical tests for detection of misspecified relationships by use of genome-screen data. Am J Hum Genet 2000; 66:1076-94.
33. O'Connell JR, Weeks DE. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998; 63:259-66.
34. Zaykin DV, Zhivotovsky LA. Ranks of genuine associations in whole-genome scans. Genetics 2005; 171:813-23.
35. Storey JD. A direct approach to false discovery rates. J R Stat Soc, B 2002; 64:479-98.
36. Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. Selecting a maximally informative set of single-nucleotide polymorphisms for association analysis using linkage disequilibrium. Am J Hum Genet 2004; 74:106-20.
37. Almasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 1998; 62:1198-211.
38. Fulker DW, Cherny SS, Cardon LR. Multipoint interval mapping of quantitative trait loci. Am J Hum Genet 1995; 56:1224-33.
39. Kong A, Gudbjartsson DF, Sainz J, Jonsdottir GM, Gudjonsson SA, Richardsson B, Sigurdardottir S, Barnard J, Hallbeck B, Masson G, Shlien A, Palsson ST, Frigge ML, Thorgeirsson TE, Gulcher JR, Stefansson K. A high-resolution recombination map of the human genome. Nat Genet 2002; 31:241-7.
40. Weeks DE, Conley YP, Mah TS, Paul TO, Morse L, Ngo-Chang J, Dailey JP, Ferrell RE, Gorin MB. A full genome scan for age-related maculopathy. Hum Mol Genet 2000; 9:1329-49.
41. Morton NE. Sequential tests for the detection of linkage. Am J Hum Genet 1955; 7:277-318.