Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12

American Journal of Human Genetics

Volumn 75, Issue 3, 2004, Pages 448-459

  Stambolian, Dwight ^a   Ibay, Grace ^c   Reider, Lauren ^a   Dana, Debra ^a   Moy, Chris ^a   Schlifka, Melissa ^a   Holmes, Taura ^c   Ciner, Elise ^b   Bailey Wilson, Joan E ^c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b PENNSYLVANIA COLLEGE OF OPTOMETRY   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACCOMMODATION PARALYSIS; ADULT; ARTICLE; CHROMOSOME 22Q; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; EYE REFRACTION; GENE INTERACTION; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; GENOME ANALYSIS; GENOTYPE; HEREDITY; HUMAN; JEW; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; MYOPIA; PENETRANCE; PRIORITY JOURNAL; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 4143102458     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/423789     Document Type: Article

References (75)

1. Abreu PC, Hodge SE, Greenberg DA (2002) Quantification of type 1 error probabilities for heterogeneity LOD scores. Genet Epidemiol 22:156-169
2. Baldwin W (1981) A review of statistical studies of relations between myopia and ethnic, behavioral, and physiological characteristics. Am J Optom Physiol Opt 58:516-527
3. Bear JC, Richler A, Burke G (1981) Near work and familial resemblances in ocular refraction: a population study in Newfoundland. Clin Genet 19:462-472
4. Boehnke M, Cox NJ (1997) Accurate inference of relationships in sib-pair linkage studies. Am J Hum Genet 61:423-429
5. Broman K, Weber JL (1998) Estimation of pairwise relationships in the presence of genotyping errors. Am J Hum Genet 63:1563-1564
6. Chen CJ, Cohen BH, Diamond EL (1985) Genetic and environmental effects on the development of myopia in Chinese twin children. Ophthalmic Paediatr Genet 6:353-359
7. Cottingham RW Jr, Idury RM, Schaffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53:252-263
8. Curtin BJ (1985) The myopias: basic science and clinical management. Harper and Row, New York
9. David R, Zanghill LM, Tessler Z, Yassur Y (1985) The correlation between intraocular pressure and refractive status. Arch Ophthalmol 103:1812-1815
10. Duffy DL (1997) Sibpair: a program for nonparametric linkage/association analysis. Am J Hum Genet Suppl 61:A197
11. Durner M, Greenberg DA, Hodge SE (1992) Inter- and intrafamilial heterogeneity: effective sampling strategies and comparison of analysis methods. Am J Hum Genet 51:859-870
12. Ewens W, Spielman RS (1995) The transmission/disequilibrium test: history, subdivision and admixture. Am J Hum Genet 57:455-464
13. Falk CT, Rubenstein P (1987) Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations. Ann Hum Genet 51:227-233
14. Fallin MD, Lasseter VK, Wolyniec PS, McGrath JA, Nestadt G, Valle D, Liang K-Y, Pulver AE (2003) Genomewide linkage scan for schizophrenia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 10q22. Am J Hum Genet 73:601-611
15. GAS, version 2.0 (1995) Oxford, United Kingdom
16. Gasperoni TL, Ekelund J, Huttunen M, Palmer CG, Tuulio-Henriksson A, Lonnqvist J, Kaprio J, Peltonen L, Cannon TD (2003) Genetic linkage and association between chromosome lq and working memory function in schizophrenia. Am J Med Genet 116B:8-16
17. Greenberg DA, Abreu PC (2001) Determining trait locus position from multipoint analysis: accuracy and power of three different statistics. Genet Epidemiol 21:299-314
18. Goss DA, Winkler RL (1983) Progression of myopia in youth: age of cessation. Am J Optom Physiol Opt 60:651-658
19. Hammond CJ, Snieder H, Gilbert CE, Spector TD (2001) Genes and environment in refractive error: the twin eye study. Invest Ophthalmol Vis Sci 42:1232-1236
20. Harding JJ, Harding RS, Egerton M (1989) Risk factors for cataract in Oxfordshire: diabetes, peripheral neuropathy, myopia, glaucoma and diarrhoea. Acta Ophthalmol (Copenh) 67:510-517
21. Hauser ER, Boehnke M (1997) Confirmation of linkage results in affected-sib-pair linkage analysis for complex genetic traits. Am J Hum Genet Suppl 61:A278
22. Hodge SE, Abreu PC, Greenberg DA (1997) Magnitude of type I error when single-locus linkage analysis is maximized over models: a simulation study. Am J Hum Genet 60:217-227
23. Hodge SE, Vieland VJ, Greenberg DA (2002) HLODs remain powerful tools for detection of linkage in the presence of genetic heterogeneity. Am J Hum Genet 70:556-557
24. Horvath S, Xu X, Laird NM (2001) The family based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Genet 9:301-306
25. Hui J, Peck L, Howland HC (1995) Correlations between familial refractive error and children's noncycloplegic refractions. Vis Res 35:1353-1358
26. Ibay G, Doan B, Reider L, Dana D, Schlifka M, Hu H, Holmes H, O'Neill J, Owens R, Ciner E, Bailey-Wilson JE, Stambolian D. Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia. BMC Med Genet (in press)
27. 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
28. Keller JT (1973) A comparison of the refractive status of myopic children and their parents. Am J Optom Arch Am Acad Optom 50:206-211
29. Krause UH, Rantakallio PT, Koiranen MJ, Mottonen JK (1993) The development of myopia up to the age of twenty and a comparison of refraction in parents and children. Arctic Med Res 52:161-165
30. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
31. Kutty RK, Kutty G, Rodriguez IR, Chader GJ, Wiggert B (1994) Chromosomal localization of the human heme oxygenase genes: heme oxygenase-1 (HMOX1) maps to chromosome 22q12 and heme oxygenase-2 (HMOX2) maps to chromosome 16p13.3. Genomics 20:513-516
32. Laird NM, Hovrath S, Xu X (2000) Implementing a unified approach to family-based tests of association. Genet Epidemiol Suppl 19:S36-S42
33. Lake SL, Blacker D, Laird NM (2000) Family-based tests of association in the presence of linkage. Am J Hum Genet 67:1515-1525
34. Lander ES, Green P (1987) Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci USA 84:2363-2367
35. Lander E, Kruglyak L (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 11:241-247
36. Lathrop GM, Lalouel JM (1984) Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 36:460-465
37. Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446
38. Lathrop GM, Lalouel JM, White RL (1986) Construction of human linkage maps: likelihood calculations for multilocus linkage analysis. Genet Epidemiol 3:39-52
39. Lyhne N, Sjolie AK, Kyvik KO, Green A (2001) 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 85:1470-1476
40. McBrien NA, Adams DW (1997) A longitudinal investigation of adult-onset and adult progression of myopia in an occupational group. Invest Ophthalmol Vis Sci 38:321-333
41. Mitchell P, Hourihan F, Sandbach J, Wang JJ (1999) The relationship between glaucoma and myopia: the Blue Mountains Eye Study. Ophthalmology 106:2010-2015
42. Morse D, Choi AM (2002) Heme oxygenase-1: the "emerging molecule" has arrived. Am J Respir Cell Mol Biol 27:8-16
43. Mutti DO, Zadnik K, Adams AJ (1996) Myopia: the nature versus nurture debate goes on. Invest Ophthalmol Vis Sci 37:952-957
44. Naiglin L, Clayton J, Gazagne C, Dallongeville F, Malecaze F, Calvas P (1999) Familial high myopia: evidence of an autosomal dominant mode of inheritance and genetic heterogeneity. Ann Genet 42:140-146
45. 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
46. Norris JD, Fan D, Sherk A, McDonnell DP (2002) A negative coregulator for the human ER. Mol Endocrinol 16:459-468
47. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, et al (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet 36:40-45
48. Ott J (1983) Linkage analysis and family classification under heterogeneity. Ann Hum Genet 47:311-320
49. Paluru P, Ronan SM, Heon E, Devoto M, Wildenberg SC, Scavello G, Holleschau A, Makitie O, Cole WG, King RA, Young TL (2003) New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci 44:1830-1836
50. Paul R, Hu B, Musahl C, Hameister H, Knippers R (1996) Coding sequence and chromosome mapping of the human gene (CDC46) for replication protein hCdc46/Mcm5. Cytogenet Cell Genet 73:317-321
51. Pericak-Vance MA (1998) Linkage disequilibrium and allelic association. In: Haines JL, Pericak-Vance (eds) Approaches to gene mapping in complex human diseases. Wiley-Liss, New York, pp 323-334
52. Rabinowitz D, Laird NM (2000) A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information. Hum Hered 50:211-223
53. Saw SM, Katz J, Schein OD, Chew SJ, Chan TK (1996) Epidemiology of myopia. Epidemiol Rev 18:175-187
54. Schaffer AA, Gupta SK, Shriram K, Cottingham RW Jr (1994) Avoiding recomputation in linkage analysis. Hum Hered 44:225-237
55. Simensen B, Thorud LO (1994) Adult-onset myopia and occupation. Acta Ophthalmol (Copenh) 72:469-471
56. Sorsby A, Leary GA, Fraser GR (1966) Family studies on ocular refraction and its components. J Med Genet 3:269-273
57. Sperduto RD, Seigel D, Roberts J, Rowland M (1983) Prevalence of myopia in the United States. Arch Ophthalmol 101:405-407
58. Stefansson H, Sigurdsson E, Steinthorsdottir V, Bjornsdottir S, Sigmundsson T, Ghosh S, Brynjolfsson J, et al (2002) Neuregulin 1 and susceptibility to schizophrenia. Am J Hum Genet 71:877-892
59. Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, et al (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci USA 99:16899-16903
60. Teikari JM, Kaprio J, Koskenvuo MK, Vannas A (1988) Heritability estimate for refractive errors: a population-based sample of adult twins. Genet Epidemiol 5:171-181
61. Terwilliger JD, Ott J (1992) A haplotype-based "haplotype relative risk" approach to detecting allelic associations. Hum Hered 42:337-346
62. Tokoro T (1988) Effect of visual display terminal (VDT) work on myopia progression. Acta Ophthalmol Suppl 185:172-174
63. Tsuruga H, Yabuta N, Hashizume K, Ikeda M, Endo Y, Nojima H (1997) Expression, nuclear localization and interactions of human MCM/P1 proteins. Biochem Biophys Res Commun 236:118-125
64. Vieland VJ, Logue M (2002) HLODs, trait models and ascertainment: implications of admixture for parameter estimation and linkage detection. Hum Hered 53:23-35
65. Wallman J, Gottlieb MD, Rajaram V, Fugate-Wentzek LA (1987) Local retinal regions control local eye growth and myopia. Science 237:73-77
66. Wang Q, Klein BE, Klein R, Moss SE (1994) Refractive status in the Beaver Dam Eye Study. Invest Ophthalmol Vis Sci 35:4344-4347
67. Weale R (1980) A note on a possible relation between refraction and a disposition for senile nuclear cataract. Br J Ophthalmol 64:311-314
68. Whittemore AS, Halpern J (1994) A class of tests for linkage using affected pedigree members. Biometrics 50:118-127
69. - (2001) Problems in the definition, interpretation, and evaluation of genetic heterogeneity. Am J Hum Genet 68:457-465
70. Xu X, Horvath S, NM Laird (2000) The FBAT (Family Based Association Test) program: testing for linkage and association with family data. http://www.biostat.harvard.edu/fbat/default.html (accessed July 9, 2004)
71. Yap M, Wu M, Liu ZM, Lee FL, Wang SH (1993) Role of heredity in the genesis of myopia. Ophthalmic Physiol Opt 13:316-319
72. Yoshida T, Biro P, Cohen T, Muller RM, Shibahara S (1988) Human heme oxygenase cDNA and induction of its mRNA by hemin. Eur J Biochem 171:457-461
73. Young TL, Ronan SM, Alvear AB, Wildenberg SC, Oetting WS, Atwood LD, Wilkin DJ, King RA (1998a) A second locus for familial high myopia maps to chromosome 12q. Am J Hum Genet 63:1419-1424
74. Young TL, Ronan SM, Drahozal LA, Wildenberg SC, Alvear AB, Oetting WS, Atwood LD, Wilkin DJ, King RA (1998b) Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet 63:109-119
75. Zylbermann R, Landau D, Berson D (1993) The influence of study habits on myopia in Jewish teenagers. J Pediatr Ophthalmol Strabismus 30:319-322