Please use this identifier to cite or link to this item: http://hdl.handle.net/10397/4435
Title: A DNA pooling-based case-control study of myopia candidate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese population
Authors: Yip, SP 
Leung, KH
Fung, WY
Ng, PW
Sham, PC
Yap, KHM 
Keywords: Collagen type 11
Collagen type 11 alpha 1
Fibrillin 1
Procollagen lysine 2 oxoglutarate 5 dioxygenase
Procollagen lysine 2 oxoglutarate 5 dioxygenase 1
Unclassified drug
Case control study
Chinese
Controlled study
DNA determination
Gene frequency
Genetic association
Genetic susceptibility
Genotype
High performance liquid chromatography
Major clinical study
Myopia
Single nucleotide polymorphism
Issue Date: 26-Mar-2011
Source: Molecular vision, 26 Mar. 2011, v. 17, p. 810-821 How to cite?
Journal: Molecular vision 
Abstract: Purpose: We examined the relationship between high myopia and common polymorphisms in four candidate genes: collagen, type XI, alpha 1 (COL11A1); collagen, type XVIII, alpha 1 (COL18A1); fibrillin 1 (FBN1); and procollagen-lysine 1,2-oxoglutarate 5-dioxygenase 1 (PLOD1). These genes were selected because rare pathogenic mutations in these genes cause disease syndromes that have myopia, usually high myopia, as one of the common presenting features.
Methods: This study recruited 600 unrelated Han Chinese subjects including 300 cases with high myopia (spherical equivalent or SE≤-8.00 diopters) and 300 controls (SE within ±1.00 diopter). A total of 66 tag single nucleotide polymorphisms (SNPs) were selected for study from these four candidate genes. The study adopted a DNA pooling strategy with an initial screen of DNA pools to identify putatively positive SNPs and then confirmed the “positive” SNPs by genotyping individual samples forming the original DNA pools. DNA pools were each constructed by mixing equal amounts of DNA from 50 individuals with the same phenotype status. Six case pools were prepared from 300 cases and six control pools from 300 controls. Allele frequencies of DNA pools were estimated by analyzing the primer-extended products with denaturing high performance liquid chromatography and compared between case pools and control pools with nested ANOVA.
Results: In the first stage, 60 SNPs from the 4 candidate genes were successfully screened using the DNA pooling approach. Of these, 6 SNPs showed a statistical significant difference in estimated allele frequencies between case pools and controls at p<0.10. In the second stage, these “positive” SNPs were followed up by individual genotyping, but failed to be confirmed via standard single-marker and haplotype analyses.
Conclusions: Common polymorphisms in these four candidate genes (COL11A1, COL18A1, FBN1 and PLOD1) were unlikely to play important roles in the genetic susceptibility to high myopia.
URI: http://hdl.handle.net/10397/4435
ISSN: 1090-0535
Rights: © 2011 Molecular Vision. Reproduced with permission of the publisher.
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