Please use this identifier to cite or link to this item: http://hdl.handle.net/10397/5814
Title: Investigating the relationship between UMODL1 gene polymorphisms and high myopia : a case-control study in Chinese
Authors: Zhu, MM
Yap, KHM 
Ho, DWH
Fung, WY
Ng, PW
Gu, YS
Yip, SP 
Keywords: High myopia
UMODL1
Single nucleotide polymorphism
Association study
Secondary phenotype
Issue Date: 2-Aug-2012
Publisher: BioMed Central
Source: BMC medical genetics, 2 Aug. 2012, v. 13, 64, p.1-10 How to cite?
Journal: BMC medical genetics 
Abstract: Background: The UMODL1 gene was found to be associated with high myopia in Japanese. This study aimed to investigate this gene for association with high myopia in Chinese.
Methods: Two groups of unrelated Han Chinese from Hong Kong were recruited using the same criteria: Sample Set 1 comprising 356 controls (spherical equivalent, SE, within ±1 diopter or D) and 356 cases (SE ≤ −8D), and Sample Set 2 comprising 394 controls and 526 cases. Fifty-nine tag single nucleotide polymorphisms (SNPs) were selected and genotyped for Sample Set 1. Four SNPs were followed up with Sample Set 2. Both single-marker and haplotype analyses were performed with cases defined by different SE thresholds. Secondary phenotypes were also analyzed for association with genotypes.
Results: Data filtering left 57 SNPs for analysis. Single-marker analysis did not reveal any significant differences between cases and controls in the initial study. However, haplotype GCT for markers rs220168-rs220170-rs11911271 showed marginal significance (empirical P = 0.076; SE ≤ −12D for cases), but could not be replicated in the follow-up study. In contrast, non-synonymous SNP rs3819142 was associated with high myopia (SE ≤ −10D) in the follow-up study, but could not be confirmed using Sample Set 1. The SNP rs2839471, positive in the original Japanese study, gave negative results in all our analyses. Exploratory analysis of secondary phenotypes indicated that allele C of rs220120 was associated with anterior chamber depth (adjusted P = 0.0460).
Conclusions: Common UMODL1 polymorphisms were unlikely to be important in the genetic susceptibility to high myopia in Han Chinese.
URI: http://hdl.handle.net/10397/5814
DOI: 10.1186/1471-2350-13-64
Rights: © 2012 Zhu et al.; licensee BioMed Central Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Appears in Collections:Journal/Magazine Article

Files in This Item:
File Description SizeFormat 
Zhu_UMODL1_Gene_Polymorphisms.pdf334.05 kBAdobe PDFView/Open
Access
View full-text via PolyU eLinks SFX Query
Show full item record

SCOPUSTM   
Citations

8
Last Week
0
Last month
0
Citations as of Oct 19, 2017

WEB OF SCIENCETM
Citations

7
Last Week
0
Last month
0
Citations as of Oct 21, 2017

Page view(s)

245
Last Week
1
Last month
Checked on Oct 23, 2017

Download(s)

102
Checked on Oct 23, 2017

Google ScholarTM

Check

Altmetric



Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.