Abstract
A previous study in China first indicated that the transforming growth factor-induced factor (TGIF) is a probable candidate gene for high myopia. The purpose of our study was to investigate whether there are significant associations between high myopia and single nucleotide polymorphism (SNP) variants in the TGIF gene of Japanese subjects. Genomic DNA was collected from 330 Japanese subjects with high myopia and at a level refractive error was less than −9.25 Dsph and 330 randomized controls without high myopia. Thirteen SNPs were detected by polymerase chain reaction (PCR) and primer extension or by PCR and SNP-specific fluorogenic probes in all of the cases and controls. Thirteen SNPs were found within the TGIF genes of the cases and controls. Two of the SNPs were monomorphic and none of the 13 SNPs showed a significant result. The pairwise linkage disequilibrium (LD) mapping confirmed that these alleles have a comparatively strong LD index of >0.8 for D′ and >0.4 for r 2. We found no statistical association between any of the 13 SNPs located on the TGIF gene and high myopia in Japanese subjects. Based on our study using Japanese subjects and the previous studies of TGIF gene polymorphism in Chinese and northern European subjects with myopia, there is no convincing evidence to prove a connection between nucleotide sequence variations in TGIF and high myopia.
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Abbreviations
- TGIF:
-
transforming growth factor-induced factor
- SNP:
-
single nucleotide polymorphism
- TGF-β:
-
transforming growth factor β
- PCR:
-
polymerase chain reaction
- MYP:
-
myopia
- TALE:
-
three-amino acid loop extension
- RXR:
-
retinoid X receptor
- ORF:
-
open reading frames
References
Bertolino E, Reimund B, Wildt-Perinic D, Clerc RG (1995) A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif. J Biol Chem 270(52):31178–31188
Burton TC (1990) The influence of refractive error and lattice degeneration on the incidence of retinal detachment. Trans Am Ophthalmol Soc 87:143–155
Christensen AM, Wallman J (1991) Evidence that increased scleral growth underlies visual deprivation myopia in chicks. Invest Ophthalmol Vis Sci 32:2143–2150
Curtin BJ (1970) Myopia: a review of its etiology, pathogenesis, and treatment. Surv Ophthalmol 15:1–17
Curtin BJ (1985) The myopias: basic science and clinical management. Harper & Row, Philadelphia
Gripp KW, Wotton D, Edwards MC et al (2000) Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet 25(2):205–208
Heath S, Robledo R, Beggs W et al (2001) A novel approach to search for identity by descent in small samples of patients and controls from the same mendelian breeding unit: a pilot study on myopia. Hum Hered 52(4):183–190
Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K (2002) A comprehensive review of genetic association studies. Genet Med 4:45–61
Honda S, Fujii S, Sekiya Y, Yamamoto M (1996) Retinal control on the axial length mediated by transforming growth factor-beta in chick eye. Invest Ophthalmol Vis Sci 37(12):2519–2526
Jobling AI, Nguyen M, Gentle A, McBrien NA (2004) Isoform-specific changes in scleral transforming growth factor-β expression and the regulation of collagen synthesis during myopia progression. J Biol Chem 279(18):18121–18126
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
Lam DS, Lee WS, Leung YF et al (2003) TGFbeta-induced factor: a candidate gene for high myopia. Invest Ophthalmol Vis Sci 44(3):1012–1015
Leibowitz HM, Krueger DE, Maunder LR (1980) The Framingham eye study monograph. Surv Ophthalmol 24:472–479
Li J, Zhang QJ, Xiao XS et al (2003) The SNPs analysis of encoding sequence of interacting factor gene in Chinese population. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 20(5):454–456
Manly KF (2005) Reliability of statistical associations between genes and disease. Immunogenetics 57:549–558
Ministry of Education, Culture, Sports, Science and Technology (2004) Disease rate among students (Statistical abstract)
Naiglin L, Gazagne C, Dallongeville F et al (2002) A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36. J Med Genet 39(2):118–124
Paluru P, Ronan SM, Heon E et al (2003) New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci 44(5):1830–1836
Scavello GS, Paluru PC, Ganter WR, Young TL (2004) Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia. Invest Ophthalmol Vis Sci 45(7):2091–2097
Schwartz M, Haim M, Skarsholm D (1990) X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq. Clin Genet 38(4):281–286
Seko Y, Shimokawa H, Tokoro T (1995) Expression of bFGF and TGF-beta 2 in experimental myopia in chicks. Invest Ophthalmol Vis Sci 36(6):1183–1187
Stambolian D, Ibay G, Reider L et al (2004) Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12. Am J Hum Genet 75(3):448–459
Tang JL (2005) Selection bias in meta-analyses of gene-disease associations. PLoS Med 2(12):e409
Wotton D, Lo RS, Lee S, Massague J (1999) A Smad transcriptional corepressor. Cell 97(1):29–39
Wotton D, Knoepfler PS, Laherty CD, Eisenman RN, Massague J (2001) The Smad transcriptional corepressor TGIF recruits mSin3. Cell Growth Differ 12(9):457–463 (Sep)
Young FA (1963) The effect of restricted visual space on the refractive error of the young monkey eye. Invest Ophthalmol 27:571–577
Young TL, Ronan SM, Alvear AB et al (1998a) A second locus for familial high myopia maps to chromosome 12q. Am J Hum Genet 63(5):1419–1424
Young TL, Ronan SM, Drahozal LA et al (1998b) Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet 63(1):109–119
Young TL, Atwood LD, Ronan SM et al (2001) Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis. Ophthalmic Genet 22(2):69–75
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Hasumi, Y., Inoko, H., Mano, S. et al. Analysis of single nucleotide polymorphisms at 13 loci within the transforming growth factor-induced factor gene shows no association with high myopia in Japanese subjects. Immunogenetics 58, 947–953 (2006). https://doi.org/10.1007/s00251-006-0155-9
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DOI: https://doi.org/10.1007/s00251-006-0155-9