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Association of Genetic Variants with Primary Angle Closure Glaucoma in Two Different Populations

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  • Mona S Awadalla
  • Suman S Thapa
  • Alex W Hewitt
  • Kathryn P Burdon
  • Jamie E Craig

Abstract

Purpose: A recent large genome-wide association study (GWAS) identified multiple variants associated with primary angle-closure glaucoma (PACG). The present study investigated the role of these variants in two cohorts with PACG recruited from Australia and Nepal. Method: Patients with PACG and appropriate controls were recruited from eye clinics in Australia (n = 232 cases and n = 288 controls) and Nepal (n = 106 cases and 204 controls). Single nucleotide polymorphisms (SNPs) rs3753841 (COL11A1), rs1015213 (located between PCMTD1 and ST18), rs11024102 (PLEKHA7), and rs3788317 (TXNRD2) were selected and genotyped on the Sequenom. Analyses were conducted using PLINK and METAL. Results: After adjustment for age and sex, SNP rs3753841 was found to be significantly associated with PACG in the Australian cohort (p = 0.017; OR = 1.34). SNPs rs1015213 (p = 0.014; OR 2.35) and rs11024102 (p = 0.039; OR 1.43) were significantly associated with the disease development in the Nepalese cohort. None of these SNPs survived Bonferroni correction (p = 0.05/4 = 0.013). However, in the combined analysis, of both cohorts, rs3753841 and rs1015213 showed significant association with p-values of 0.009 and 0.004, respectively both surviving Bonferroni correction. SNP rs11024102 showed suggestive association with PACG (p-value 0.035) and no association was found with rs3788317. Conclusion: The present results support the initial GWAS findings, and confirm the SNP’s contribution to PACG. This is the first study to investigate these loci in both Australian Caucasian and Nepalese populations.

Suggested Citation

  • Mona S Awadalla & Suman S Thapa & Alex W Hewitt & Kathryn P Burdon & Jamie E Craig, 2013. "Association of Genetic Variants with Primary Angle Closure Glaucoma in Two Different Populations," PLOS ONE, Public Library of Science, vol. 8(6), pages 1-5, June.
    • Handle: RePEc:plo:pone00:0067903
    DOI: 10.1371/journal.pone.0067903
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    Cited by:

    1. Wenjuan Zhuang & Shaolin Wang & Juan Hao & Manyun Xu & Hao Chi & Shunyu Piao & Jianqing Ma & Xiaolong Zhang & Shaoping Ha, 2018. "Genotype-ocular biometry correlation analysis of eight primary angle closure glaucoma susceptibility loci in a cohort from Northern China," PLOS ONE, Public Library of Science, vol. 13(11), pages 1-9, November.

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