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Volumn 20, Issue 5, 2009, Pages 356-362

Myopia genetics: A review of current research and emerging trends

Author keywords

Candidate genes; Epidemiology; Genetics; Mapping studies; Myopia

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN TYPE 2; EARLY GROWTH RESPONSE FACTOR 1; FRIZZLED PROTEIN; LUMICAN; MEMBRANE TYPE FRIZZLED RELATED PROTEIN; SCATTER FACTOR; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR SOX2; TRANSFORMING GROWTH FACTOR BETA1; UNCLASSIFIED DRUG;

EID: 69749125755     PISSN: 10408738     EISSN: None     Source Type: Journal    
DOI: 10.1097/ICU.0b013e32832f8040     Document Type: Review
Times cited : (110)

References (62)
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    • This article summarizes the results of a genome-wide linkage analysis of white and Old Order Amish populations and performs a meta-analysis combining these results with the group's previous linkage data in African-American and Ashkenazi Jewish populations. The data show suggestive evidence of linkage of ocular refraction to 12q24 and 4q21 in white families and to 5qter in Amish families. The meta-analysis confirms suggestive evidence of linkage to 4q21-22 adjacent to the previously reported MYP9 and MYP11 loci. Thus, this study supports the view that several genes play a role in refractive development across populations.
    • Wojciechowski RJ, Stambolian D, Ciner EB, et al. Genomewide linkage scans for ocular refraction and meta-analysis of four populations in the Myopia Family study. Invest Ophthalmol Vis Sci 2009; 50:2024-2032. This article summarizes the results of a genome-wide linkage analysis of white and Old Order Amish populations and performs a meta-analysis combining these results with the group's previous linkage data in African-American and Ashkenazi Jewish populations. The data show suggestive evidence of linkage of ocular refraction to 12q24 and 4q21 in white families and to 5qter in Amish families. The meta-analysis confirms suggestive evidence of linkage to 4q21-22 adjacent to the previously reported MYP9 and MYP11 loci. Thus, this study supports the view that several genes play a role in refractive development across populations.
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    • This study demonstrates the association of several PAX6 variants with susceptibility to high myopia in southern Han Chinese, thereby suggesting that polymorphisms in the PAX6 locus may play a significant role in high myopia in this population.
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    • Tang WC, Yip SP, Lo KK, et al. Linkage and association of myocilin (MYOC) polymorphisms with high myopia in a Chinese population. Mol Vis 2007; 13:534-544.
    • (2007) Mol Vis , vol.13 , pp. 534-544
    • Tang, W.C.1    Yip, S.P.2    Lo, K.K.3
  • 52
    • 67549085398 scopus 로고    scopus 로고
    • Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia
    • This study confirmed an association between high myopia and a common variant in the myocilin gene in 19 individuals in Korcula Island, Croatia. The results must be interpreted with caution, as the study was relatively underpowered and had limited SNP coverage.
    • Vatavuk Z, Skunca Herman J, Bencić G, et al. Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia. Croat Med J 2009; 50:17-22. This study confirmed an association between high myopia and a common variant in the myocilin gene in 19 individuals in Korcula Island, Croatia. The results must be interpreted with caution, as the study was relatively underpowered and had limited SNP coverage.
    • (2009) Croat Med J , vol.50 , pp. 17-22
    • Vatavuk, Z.1    Skunca Herman, J.2    Bencić, G.3
  • 53
    • 66849091235 scopus 로고    scopus 로고
    • Myopia and polymorphisms in genes for matrix metalloproteinases
    • Hall et al. report an association between common myopia and polymorphisms in three genes coding for MMP-1, MMP-3, and MMP-9, enzymes that degrade matrix proteins and modulate scleral extensibility. In their population of white English individuals, risk of myopia increased progressively with dose of polymorphic alleles in these three genes.
    • Hall NF, Gale CR, Ye S, Martyn CN. Myopia and polymorphisms in genes for matrix metalloproteinases. Invest Ophthalmol Vis Sci 2009; 50:2632-2636. Hall et al. report an association between common myopia and polymorphisms in three genes coding for MMP-1, MMP-3, and MMP-9, enzymes that degrade matrix proteins and modulate scleral extensibility. In their population of white English individuals, risk of myopia increased progressively with dose of polymorphic alleles in these three genes.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 2632-2636
    • Hall, N.F.1    Gale, C.R.2    Ye, S.3    Martyn, C.N.4
  • 54
    • 55449092600 scopus 로고    scopus 로고
    • Identification and replication of three novel myopia common susceptibility gene loci on chromosome 3q26 using linkage and linkage disequilibrium mapping
    • This is the first evidence of involvement of mitochondrial regulatory processes in myopia development. The authors confirmed evidence for linkage to chromosome 3q26 and conducted fine-scale association mapping. They identify three loci with putative common functional variants centered on MFN1, upstream from alternate-splicing SOX2OT and PSARL, and replicate these results in an independent sample. As MFN1 and PSARL both influence mitochondrial regulatory processes in the retina, these findings are surprising and may suggest a novel perspective of the molecular genetic basis of common myopia.
    • Andrew T, Maniatis N, Carbonaro F, et al. Identification and replication of three novel myopia common susceptibility gene loci on chromosome 3q26 using linkage and linkage disequilibrium mapping. PLoS Genet 2008; 4:e1000220. This is the first evidence of involvement of mitochondrial regulatory processes in myopia development. The authors confirmed evidence for linkage to chromosome 3q26 and conducted fine-scale association mapping. They identify three loci with putative common functional variants centered on MFN1, upstream from alternate-splicing SOX2OT and PSARL, and replicate these results in an independent sample. As MFN1 and PSARL both influence mitochondrial regulatory processes in the retina, these findings are surprising and may suggest a novel perspective of the molecular genetic basis of common myopia.
    • (2008) PLoS Genet , vol.4
    • Andrew, T.1    Maniatis, N.2    Carbonaro, F.3
  • 55
    • 64049109511 scopus 로고    scopus 로고
    • Evaluation of the X-linked high grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies
    • This study establishes the association between TEX28 CNVs and the MYP1 X-linked myopia phenotypes. It also reveals that a range of copies (one to five), not only three copies as previously thought, can produce the same phenotype.
    • Metlapally R, Michaelides M, Bulusu A, et al. Evaluation of the X-linked high grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. Invest Ophthalmol Vis Sci 2008; 50:1552-1558. This study establishes the association between TEX28 CNVs and the MYP1 X-linked myopia phenotypes. It also reveals that a range of copies (one to five), not only three copies as previously thought, can produce the same phenotype.
    • (2008) Invest Ophthalmol Vis Sci , vol.50 , pp. 1552-1558
    • Metlapally, R.1    Michaelides, M.2    Bulusu, A.3
  • 57
    • 38949159652 scopus 로고    scopus 로고
    • Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes
    • DOI 10.1111/j.1399-0004.2007.00947.x
    • Olavarrieta L, Morales-Angulo C, del Castillo I, et al. Stickler and branchio-otorenal syndromes in a patient with mutations in EYA1 and COL2A1 genes. Clin Genet 2008; 73:262-267. Sequence analysis of three individuals with familial Stickler syndrome type I reveals a novel COL2A1 mutation (c.1468-1475delinsT) that accounts for the STL1 phenotype. This phenotype includes myopia, congenital vitreous anomaly, and orofacial, articular, and auditory manifestations. (Pubitemid 351228513)
    • (2008) Clinical Genetics , vol.73 , Issue.3 , pp. 262-267
    • Olavarrieta, L.1    Morales-Angulo, C.2    Del Castillo, I.3    Moreno, F.4    Moreno-Pelayo, M.A.5
  • 58
    • 34548363476 scopus 로고    scopus 로고
    • Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen
    • DOI 10.1136/bjo.2006.112482
    • Meredith SP, Richards AJ, Bearcroft P, et al. Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen. Br J Ophthalmol 2007; 91:1148-1151. (Pubitemid 47344887)
    • (2007) British Journal of Ophthalmology , vol.91 , Issue.9 , pp. 1148-1151
    • Meredith, S.P.1    Richards, A.J.2    Bearcroft, P.3    Pouson, A.V.4    Snead, M.P.5
  • 60
    • 59449095629 scopus 로고    scopus 로고
    • Absence of association between COL1A1 polymorphisms and high myopia in the Japanese population
    • This study is a follow-up to the Inamori et al. study in September 2007, which identified COL1A1 as a candidate gene for high myopia in a Japanese population. Using a tagging single nucleotide polymorphism (tSNP) approach, this study reveals no association between high myopia and the two SNPs identified in the paper by Inamori et al., suggesting that the genetic risk associated with this gene, if any, is weaker than originally reported.
    • Nakanishi H, Yamada R, Gotoh N, et al. Absence of association between COL1A1 polymorphisms and high myopia in the Japanese population. Invest Ophthalmol Vis Sci 2009; 50:544-550. This study is a follow-up to the Inamori et al. study in September 2007, which identified COL1A1 as a candidate gene for high myopia in a Japanese population. Using a tagging single nucleotide polymorphism (tSNP) approach, this study reveals no association between high myopia and the two SNPs identified in the paper by Inamori et al., suggesting that the genetic risk associated with this gene, if any, is weaker than originally reported.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 544-550
    • Nakanishi, H.1    Yamada, R.2    Gotoh, N.3
  • 61
    • 39549090489 scopus 로고    scopus 로고
    • Assessment of TGIF as a candidate gene for myopia
    • This is the first study to evaluate the association of the TGIF gene with high myopia. The data revealed no significant association for either ocular biometric measures or refraction in a white population, indicating that TGIF is unlikely to play a major role in these values in whites. Thus, focus should turn to investigating other genes in the MYP2 linkage region or in other linkage regions.
    • Pertile KK, Schache M, Islam FM, et al. Assessment of TGIF as a candidate gene for myopia. Invest Ophthalmol Vis Sci 2008; 49:49-54. This is the first study to evaluate the association of the TGIF gene with high myopia. The data revealed no significant association for either ocular biometric measures or refraction in a white population, indicating that TGIF is unlikely to play a major role in these values in whites. Thus, focus should turn to investigating other genes in the MYP2 linkage region or in other linkage regions.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 49-54
    • Pertile, K.K.1    Schache, M.2    Islam, F.M.3
  • 62
    • 64049103063 scopus 로고    scopus 로고
    • High myopia is not associated with the SNPs in the TGIF, Lumican, TGFB1, and HGF genes
    • This study investigates the previously reported association between four SNPs in the TGIF, Lumican, TGFB1, and HGF genes and high myopia in Chinese individuals living in south-east China. The study genotypes these SNPs by restrict fragment length polymorphism (RFLP) analysis and finds no association between high myopia and these SNPs, providing a contrary view to the previous reports.
    • Wang P, Li S, Xiao X, et al. High myopia is not associated with the SNPs in the TGIF, Lumican, TGFB1, and HGF genes. Invest Ophthalmol Vis Sci 2009; 50:1546-1551. This study investigates the previously reported association between four SNPs in the TGIF, Lumican, TGFB1, and HGF genes and high myopia in Chinese individuals living in south-east China. The study genotypes these SNPs by restrict fragment length polymorphism (RFLP) analysis and finds no association between high myopia and these SNPs, providing a contrary view to the previous reports.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 1546-1551
    • Wang, P.1    Li, S.2    Xiao, X.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.