Please use this identifier to cite or link to this item: http://hdl.handle.net/10397/5806
Title: Linkage and association of myocilin (MYOC) polymorphisms with high myopia in a Chinese population
Authors: Tang, WC
Yip, SP 
Lo, KK
Ng, PW
Choi, PS
Lee, SY
Yap, KHM 
Keywords: DNA flanking region
Adolescent
Adult
Asian continental ancestry group
Cytoskeletal proteins
Eye proteins
Gene frequency
Dominant
Recessive
Genetic markers
Genotype
Glycoproteins
Humans
Linkage genetics
Male
Microsatellite repeats
Myopia
Genetic
Polymorphism
Single nucleotide
Promoter regions genetics
Severity of illness index
Family study
Dominant inheritance
High myopia
Optometry
Nuclear family
Population genetics
Dominant inheritance
Hong Kong
Chinese
Issue Date: 4-Apr-2007
Publisher: Molecular Vision
Source: Molecular vision, 4 Apr. 2007, v. 13, p. 534-544 How to cite?
Journal: Molecular vision 
Abstract: Purpose: To test the association between myocilin gene (MYOC) polymorphisms and high myopia in Hong Kong Chinese by using family-based association study.
Methods: A total of 162 Chinese nuclear families, consisting of 557 members, were recruited from an optometry clinic. Each family had two parents and at least one offspring with high myopia (defined as -6.00D or less for both eyes). All offspring were healthy with no clinical evidence of syndromic disease and other ocular abnormality. Genotyping was performed for two MYOC microsatellites (NGA17 and NGA19) and five tag single nucleotide polymorphisms (SNPs) spreading across the gene. The genotype data were analyzed with Family-Based Association Test (FBAT) software to check linkage and association between the genetic markers and myopia, and with GenAssoc to generate case and pseudocontrol subjects for investigating main effects of genetic markers and calculating the genotype relative risks (GRR).
Results: FBAT analysis showed linkage and association with high myopia for two microsatellites and two SNPs under one to three genetic models after correction for multiple comparisons by false discovery rate. NGA17 at the promoter was significant under an additive model (p=0.0084), while NGA19 at the 3' flanking region showed significant results under both additive (p=0.0172) and dominant (p=0.0053) models. SNP rs2421853 (C>T) exhibited both linkage and association under additive (p=0.0009) and dominant/recessive (p=0.0041) models. SNP rs235858 (T>C) was also significant under additive (p=4.0E-6) and dominant/recessive (p=2.5E-5) models. Both SNPs were downstream of NGA19 at the 3' flanking region. Positive results for these SNPs were novel findings. A stepwise conditional logistic regression analysis of the case-pseudocontrol dataset generated by GenAssoc from the families showed that both SNPs could separately account for the association of NGA17 or NGA19, and that both SNPs contributed separate main effects to high myopia. For rs2421853 and with C/C as the reference genotype, the GRR increased from 1.678 for G/A to 2.738 for A/A (p=9.0E-4, global Wald test). For rs235858 and with G/G as the reference, the GRR increased 2.083 for G/A to 3.931 for A/A (p=2.0E-2, global Wald test). GRR estimates thus suggested an additive model for both SNPs, which was consistent with the finding that, of the three models tested, the additive model gave the lowest p values in FBAT analysis.
Conclusions: Linkage and association was shown between the MYOC polymorphisms and high myopia in our family-based association study. The SNP rs235858 at the 3' flanking region showed the highest degree of confidence for association.
URI: http://hdl.handle.net/10397/5806
ISSN: 1090-0535
Rights: This work is licensed under the Creative Commons Attribution-No Derivative Works 3.0 (http://creativecommons.org/licenses/by-nd/3.0/)
The open URL of the article: http://www.molvis.org/molvis/v13/a57/
Appears in Collections:Journal/Magazine Article

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