Linkage analysis of high myopia susceptibility locus in 26 families

Molecular Vision

Volumn 14, Issue , 2008, Pages 2566-2574

  Paget, Sandrine ^a,b   Julia, Sophie ^b,c   Vitezica, Zulma G ^a,b   Soler, Vincent ^a,c   Malecaze, François ^a,b,c   Calvas, Patrick ^a,b,c  

^a INSERM   (France)

^b UNIVERSITÉ PAUL SABATIER   (France)

^c CHU PURPAN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; FAMILY STUDY; FEMALE; GENE LOCUS; GENE REPLICATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; GENETIC VARIABILITY; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MYOPIA; PRIORITY JOURNAL; SCORING SYSTEM;

ADOLESCENT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 7; EUROPEAN CONTINENTAL ANCESTRY GROUP; FAMILY; FEMALE; FRANCE; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MIDDLE AGED; MODELS, GENETIC; MYOPIA; PEDIGREE; PHENOTYPE; QUANTITATIVE TRAIT LOCI;

EID: 58149460017     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (56)

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. 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.
3. 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.
4. Iwase A, Araie M, Tomidokoro A, Yamamoto T, Shimizu H, Kitazawa Y. Prevalence and causes of low vision and blindness in a Japanese adult population: the Tajimi Study. Ophthalmology 2006; 113:1354-62.
5. Javitt JC, Chiang YP. The socioeconomic aspects of laser refractive surgery. Arch Ophthalmol 1994; 112:1526-30.
6. 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.
7. Tay MT, Au Eong KG, Ng CY, Lim MK. Myopia and educational attainment in 421,116 young Singaporean males. Ann Acad Med Singapore 1992; 21:785-91.
8. Rose KA, Morgan IG, Smith W, Mitchell P. High heritability of myopia does not preclude rapid changes in prevalence. Clin Experiment Ophthalmol 2002; 30:168-72.
9. Congdon NG, Friedman DS, Lietman T. Important causes of visual impairment in the world today. JAMA 2003; 290:2057-60.
10. Munier A, Gunning T, Kenny D, O'Keefe M. Causes of blindness in the adult population of the Republic of Ireland. Br J Ophthalmol 1998; 82:630-3.
11. Dandona L, Dandona R, Srinivas M, Giridhar P, Vilas K, Prasad MN, John RK, McCarty CA, Rao GN. Blindness in the Indian state of Andhra Pradesh. Invest Ophthalmol Vis Sci 2001; 42:908-16.
12. Sorsby A, Fraser GR. Statistical Note on the Components of Ocular Refraction in Twins. J Med Genet 1964; 55:47-9.
13. Chen CJ, Cohen BH, Diamond EL. Genetic and environmental effects on the development of myopia in Chinese twin children. Ophthalmic Paediatr Genet 1985; 6:353-9.
14. 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.
15. 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.
16. Dirani M, Chamberlain M, Garoufalis P, Chen C, Guymer RH, Baird PN. Refractive errors in twin studies. Twin Res Hum Genet 2006; 9:566-72.
17. Goss DA, Hampton MJ, Wickham MG. Selected review on genetic factors in myopia. J Am Optom Assoc 1988; 59:875-84.
18. Gilmartin B. Myopia: precedents for research in the twenty-first century. Clin Experiment Ophthalmol 2004; 32:305-24.
19. Morgan I, Rose K. How genetic is school myopia? Prog Retin Eye Res 2005; 24:1-38.
20. 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.
21. 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.
22. 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.
23. 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.
24. Paluru P, Ronan SM, Heon E, Devoto M, Wildenberg SC, Scavello G, Holleschau A, Mäkitie 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.
25. Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik J. A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612. Mol Vis 2005; 11:554-60.
26. 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.
27. 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.
28. 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.
29. 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.
30. Chen CY, Stankovich J, Scurrah KJ, Garoufalis P, Dirani M, Pertile KK, Richardson AJ, Baird PN. Linkage replication of the MYP12 locus in common myopia. Invest Ophthalmol Vis Sci 2007; 48:4433-9.
31. 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.
32. 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.
33. 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.
34. 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.
35. Scavello GS, Paluru PC, Ganter WR, Young TL. Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia. Invest Ophthalmol Vis Sci 2004; 45:2091-7.
36. Young TL, Deeb SS, Ronan SM, Dewan AT, Alvear AB, Scavello GS, Paluru PC, Brott MS, Hayashi T, Holleschau AM, Benegas N, Schwartz M, Atwood LD, Oetting WS, Rosenberg T, Motulsky AG, King RA. X-linked high myopia associated with cone dysfunction. Arch Ophthalmol 2004; 122:897-908.
37. Liang CL, Wang HS, Hung KS, Hsi E, Sun A, Kuo YH, Juo SH. Evaluation of MMP3 and TIMP1 as candidate genes for high myopia in young Taiwanese men. Am J Ophthalmol 2006; 142:518-20.
38. 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.
39. 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.
40. Zhou G, Williams RW. Eye1 and Eye2: gene loci that modulate eye size, lens weight, and retinal area in the mouse. Invest Ophthalmol Vis Sci 1999; 40:817-25.
41. Han W, Yap MK, Wang J, Yip SP. Family-based association analysis of hepatocyte growth factor (HGF) gene polymorphisms in high myopia. Invest Ophthalmol Vis Sci 2006; 47:2291-9.
42. Naiglin L, Clayton J, Gazagne C, Dallongeville F, Malecaze F, Calvas P. Familial high myopia: evidence of an autosomal dominant mode of inheritance and genetic heterogeneity. Ann Genet 1999; 42:140-6.
43. Sambrook JFE, Maniatis T. Molecular cloning, a laboratory manual. New York: Cold Spring Harbor Laboratory Press; 1989.
44. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin- rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002; 30:97-101.
45. Wigginton JE, Abecasis GR. PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 2005; 21:3445-7.
46. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996; 58:1347-63.
47. Yalcin B, Willis-Owen SA, Fullerton J, Meesaq A, Deacon RM, Rawlins JN, Copley RR, Morris AP, Flint J, Mott R. Genetic dissection of a behavioral quantitative trait locus shows that Rgs2 modulates anxiety in mice. Nat Genet 2004; 36:1197-202.
48. Altmuller J, Palmer LJ, Fischer G, Scherb H, Wjst M. Genomewide scans of complex human diseases: true linkage is hard to find. Am J Hum Genet 2001; 69:936-50.
49. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996; 273:1516-7.
50. 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.
51. Stone RA, Liu J, Sugimoto R, Capehart C, Zhu X, Pendrak K. GABA, experimental myopia, and ocular growth in chick. Invest Ophthalmol Vis Sci 2003; 44:3933-46.
52. Schulz HL, Stoehr H, White K, van Driel MA, Hoyng CB, Cremers F, Weber BH. Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy. Mol Vis 2002; 8:67-71.
53. Jhamandas JH, Simonin F, Bourguignon JJ, Harris KH. Neuropeptide FF and neuropeptide VF inhibit GABAergic neurotransmission in parvocellular neurons of the rat hypothalamic paraventricular nucleus. Am J Physiol Regul Integr Comp Physiol 2007; 292:R1872-80.
54. Stone RA, Liu J, Sugimoto R, Capehart C, Zhu X, Pendrak K. GABA, experimental myopia, and ocular growth in chick. Invest Ophthalmol Vis Sci 2003; 44:3933-46.
55. Gong S, Zheng C, Doughty ML, Losos K, Didkovsky N, Schambra UB, Nowak NJ, Joyner A, Leblanc G, Hatten ME, Heintz N. A gene expression atlas of the central nervous system based on bacterial artificial chromosomes. Nature 2003; 425:917-25.
56. Phillips SA, Barr VA, Haft DH, Taylor SI, Haft CR. Identification and characterization of SNX15, a novel sorting nexin involved in protein trafficking. J Biol Chem 2001; 276:5074-84.