Confirmation of linkage to ocular refraction on chromosome 22q and identification of a novel linkage region on 1q

Archives of Ophthalmology

Volumn 125, Issue 1, 2007, Pages 80-85

  Klein, Alison P ^a,b,e   Duggal, Priya ^c   Lee, Kristine E ^d   Klein, Ronald ^d   Bailey Wilson, Joan E ^c   Klein, Barbara E K ^d  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^e JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CHROMOSOME 1Q; CHROMOSOME 22Q; CHROMOSOME 7P; CONTROLLED STUDY; EYE REFRACTION; FEMALE; GENE IDENTIFICATION; GENE LOCATION; GENE REPLICATION; GENETIC LINKAGE; HEREDITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MYOPIA; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; GENETIC MARKERS; GENOTYPE; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; PEDIGREE; REFRACTION, OCULAR; REFRACTIVE ERRORS; SIBLINGS; WISCONSIN;

EID: 33846087740     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.125.1.80     Document Type: Article

References (34)

1. Aine E. Refractive errors in a Finnish rural population. Acta Ophthalmol (Copenh). 1984;62:944-954.
2. Angle J, Wissmann DA. Age, reading, and myopia. Am J Optom Physiol Opt. 1978;55:302-308.
3. Lee KE, Klein BE, Klein R, Fine JP. Aggregation of refractive error and 5-year changes in refractive error among families in the Beaver Dam Eye Study. Arch Ophthalmol. 2001;119:1679-1685.
4. Wong TY, Foster PJ, Johnson GJ, Seah SK. Education, socioeconomic status, and ocular dimensions in Chinese adults: the Tanjong Pagar Survey. Br J Ophthalmol. 2002;86:963-968.
5. Wang Q, Klein BE, Klein R, Moss SE. Refractive status in the Beaver Dam Eye Study. Invest Ophthalmol Vis Sci. 1994;35:4344-4347.
6. Bear JC, Richler A, Burke G. Nearwork and familial resemblances in ocular refraction: a population study in Newfoundland. Clin Genet. 1981;19:462-472.
7. Klein AP, Duggal P, Lee KE, Klein R, Bailey-Wilson JE, Klein BEK. Support for polygenic influences on ocular refractive error. Invest Ophthalmol Vis Sci. 2005;46:442-446.
8. Ashton GC. Segregation analysis of ocular refraction and myopia. Hum Hered. 1985;35:232-239.
9. Sorsby A, Sheridan M, Leary GA. Refraction and Its Components in Twins. London, England: Her Majesty's Stationery Office, Medical Research Counsel; 1962.
10. 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;42:140-146.
11. Young TL, Ronan SM, Alvear AB, et al. A second locus for familial high myopia maps to chromosome 12q. Am J Hum Genet. 1998;63:1419-1424.
12. Young TL, Ronan SM, Drahozal LA, et al. Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet. 1998;63:109-119.
13. 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;46:2300-2307.
14. 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.
15. 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;38:281-286.
16. Young TL, Deeb SS, Ronan SM, et al. X-linked high myopia associated with cone dysfunction. Arch Ophthalmol. 2004;122:897-908.
17. Michaelides M, Johnson S, Bradshaw K, et al. X-linked cone dysfunction syndrome with myopia and protanopia. Ophthalmology. 2005;112:1448-1454.
18. Stambolian D, Ibay G, Reider L, et al. Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12. Am J Hum Genet. 2004;75:448-459.
19. Stambolian D, Ciner EB, Reider LC, et al. Genome-wide scan for myopia in the Old Order Amish. Am J Ophthalmol. 2005;140:469-476.
20. Alsbirk PH. Anterior chamber of the eye: a genetic and anthropological study in Greenland Eskimos. Hum Hered. 1975;25:418-427.
21. Hammond CJ, Snieder H, Gilbert CE, Spector TD. Genes and environment in refractive error: the twin eye study. Invest Ophthalmol Vis Sci. 2001;42:1232-1236.
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.
23. Wojciechowski R, Moy C, Ciner E, et al. Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36. Hum Genet. 2006;119:389-399.
24. S.A.G.E. [2002]. Statistical Analysis for Genetic Epidemiology, Release 5.2: http://genepi.cwru.edu/.
25. Klein R, Klein BE, Linton KL, De Mets DL. The Beaver Dam Eye Study: visual acuity. Ophthalmology. 1991;98:1310-1315.
26. Lee KE, Klein BE, Klein R. Changes in refractive error over a 5-year interval in the Beaver Dam Eye Study. Invest Ophthalmol Vis Sci. 1999;40:1645-1649.
27. Lee KE, Klein BE, Klein R, Wong TY. Changes in refraction over 10 years in an adult population: the Beaver Dam Eye study. Invest Ophthalmol Vis Sci. 2002;43:2566-2571.
28. Klein BE, Klein R, Linton KL, Magli YL, Neider MW. Assessment of cataracts from photographs in the Beaver Dam Eye Study. Ophthalmology. 1990;97:1428-1433.
29. Sun L, Wilder K, McPeek MS. Enhanced pedigree error detection. Hum Hered. 2002;54:99-110.
30. Duffy DL. SIB-PAIR: A Program of Elementary Genetical Analysis. Queensland, Australia: Queensland Institute of Medical Research; 2002.
31. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet. 1995;11:241-247.
32. Ibay G, Doan B, Reider L, et al. Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia. BMC Med Genet. 2004;5:20.
33. Young TL, Atwood LD, Ronan SM, et al. Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis. Ophthalmic Genet. 2001;22:69-75.
34. Sundin OH, Leppert GS, Silva ED, et al. Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. Proc Natl Acad Sci U S A. 2005;102:9553-9558.