eCite Digital Repository

A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma

Citation

Awadalla, MS and Burdon, KP and Thapa, SS and Hewitt, AW and Craig, JE, A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma, Molecular Vision, 18 pp. 2247-2254. ISSN 1090-0535 (2012) [Refereed Article]


Preview
PDF
466Kb
  

Copyright Statement

Copyright 2012 Molecular Vision-available with a Creative Commons Attribution-NonCommercial-NoDerivatives License 3.0, or CC BY-NC-ND 3.0 (see http://creativecommons.org/licenses/by-nc-nd/3.0/ for license terms)

Official URL: http://www.molvis.org/molvis/v18/a238/

Abstract

Purpose: To investigate the underlying genetic variation between candidate genes and primary angle closure glaucoma (PACG) in both Nepalese and Australian populations. Methods: A total of 213 patients with PACG (106 Nepalese and 107 Australian) and 492 age and sex matched controls (204 Nepalese and 288 Australian) were included in the current study. Three candidate genes were selected; methyltetrahydrofolate reductase (MTHFR), calcitonin receptor-like receptor gene (CALCRL), and membrane frizzled-related protein (MFRP). Tag single nucleotide polymorphisms (SNPs) were selected and genotyped to capture the majority of common variation across each locus. Allele and haplotype analyses were conducted using PLINK. Results: SNPs in the nanophthalmos gene MFRP were found to be nominally associated with PACG under the allelic model. Two SNPs were associated in the Australian cohort (rs948414; p=0.02 and rs36015759; p=0.02), and a single SNP in the Nepalese cohort (rs10790289; p=0.03), however these SNPs failed to remain significant after adjustment for sex and age. A haplotype at the CALCRL gene (AATACAGAT) was associated in the Australian cohort (corrected pvalue= 0.024). No association was observed in either cohort for MTHFR. Conclusions: This study implicates genetic variation at the CALCRL gene in the pathogenesis of PACG in an Australian Caucasian cohort. Additionally, the MFRP gene shows tendency to be associated with PACG in both the Australian and Nepalese cohorts. Further investigation in a larger cohort is warranted to confirm these findings. No statistically significant associations were identified between MTHFR and PACG in either population.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Burdon, KP (Associate Professor Kathryn Burdon)
Author:Hewitt, AW (Dr Alex Hewitt)
ID Code:90621
Year Published:2012
Web of Science® Times Cited:3
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-04-15
Last Modified:2014-09-23
Downloads:177 View Download Statistics

Repository Staff Only: item control page