July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Association of the CAV1/CAV2 locus with Normal Tension Glaucoma in East Asians
Author Affiliations & Notes
  • Calvin C P Pang
    Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Kowloon, Hong Kong
    Joint Shantou International Eye Center,, Shantou University and the Chinese University of Hong Kong, Shantou, China
  • Shiyao Lu
    Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Kowloon, Hong Kong
  • Clement C Y Tham
    Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Kowloon, Hong Kong
  • Chukai Huang
    Joint Shantou International Eye Center,, Shantou University and the Chinese University of Hong Kong, Shantou, China
  • Motokazu Tsujikawa
    Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
  • Kohji Nishida
    Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
  • Mingzhi Zhang
    Joint Shantou International Eye Center,, Shantou University and the Chinese University of Hong Kong, Shantou, China
  • Li Jia Chen
    Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Kowloon, Hong Kong
  • Footnotes
    Commercial Relationships   Calvin Pang, None; Shiyao Lu, None; Clement Tham, None; Chukai Huang, None; Motokazu Tsujikawa, None; Kohji Nishida, None; Mingzhi Zhang, None; Li Jia Chen, None
  • Footnotes
    Support  General Research Fund: 14100917
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 1624. doi:https://doi.org/
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    • Get Citation

      Calvin C P Pang, Shiyao Lu, Clement C Y Tham, Chukai Huang, Motokazu Tsujikawa, Kohji Nishida, Mingzhi Zhang, Li Jia Chen; Association of the CAV1/CAV2 locus with Normal Tension Glaucoma in East Asians. Invest. Ophthalmol. Vis. Sci. 2019;60(9):1624. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To evaluate the association between the CAV1//CAV2 locus and normal tension glaucoma (NTG) in Chinese and Japanese populations.

Methods : Eight single-nucleotide polymorphisms (SNPs) in the CAV1/CAV2 locus were analyzed for association in a Hong Kong Chinese cohort of 537 NTG patients and 490 controls. They were rs4236601 and rs1052990, reported in genome-wide association studies (GWAS) of primary open-angle glaucoma, and 6 haplotype-tagging SNPs (rs6466579, rs7801950, rs3779512, rs3807989, rs3801994 and rs1049337). SNPs showing significant association were further analyzed in another Chinese cohort from Shantou (102 patients and 731 controls) and a Japanese cohort from Osaka (153 patients and 207 controls). Results from the three cohorts were combined using meta-analysis.

Results : Only one SNP, rs4236601, showed significant association with NTG, which is in the Hong Kong and Shantou Chinese cohorts (Pmeta=0.0010, OR=3.99, I2=0). After stratification by gender, rs4236601 was strongly associated with NTG in males (Pmeta=0.0015, OR=11.77, I2=0), but not in females (Pmeta=0.38, OR=1.71, I2=0). This SNP is non-polymorphic in the Osaka cohort. Another SNP, rs1052990, was associated with NTG in Hong Kong males (G allele; OR=1.49, P=0.036), but it showed an opposite effect in Osaka males (OR=0.54, P=0.037).

Conclusions : SNP rs4236601 is significantly associated with NTG in Chinese. Both rs4236601 and rs1052990 showed gender-specific association with NTG and had stronger impacts on males than females. Additionally, rs1052990 showed different trends of effect between Chinese and Japanese males. Results of this study suggest ethnic and gender diversities in the association of CAV1/CAV2 SNPs with NTG.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

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