March 2012
Volume 53, Issue 14
Free
ARVO Annual Meeting Abstract  |   March 2012
Interaction Between ATOH7 And RFTN1 In Association With Adult-onset Primary Open Angle Glaucoma In Southern Chinese
Author Affiliations & Notes
  • Mingzhi Zhang
    Ophthalmology, Joint Shantou International Eye Center, Shantou, China
  • Jian-Huan Chen
    Ophthalmology, Joint Shantou International Eye Center, Shantou, China
    Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China
  • Degui Wang
    Ophthalmology, Joint Shantou International Eye Center, Shantou, China
  • Yuqian Zheng
    Ophthalmology, Joint Shantou International Eye Center, Shantou, China
  • Chi-Pui Pang
    Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China
  • Footnotes
    Commercial Relationships  Mingzhi Zhang, None; Jian-Huan Chen, None; Degui Wang, None; Yuqian Zheng, None; Chi-Pui Pang, None
  • Footnotes
    Support  research grants from National Natural Science Foundation of China (No. 81000397) and Natural Science Foundation of Guangdong Province, China (No. 8151503102000019)
Investigative Ophthalmology & Visual Science March 2012, Vol.53, 3874. doi:https://doi.org/
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      Mingzhi Zhang, Jian-Huan Chen, Degui Wang, Yuqian Zheng, Chi-Pui Pang; Interaction Between ATOH7 And RFTN1 In Association With Adult-onset Primary Open Angle Glaucoma In Southern Chinese. Invest. Ophthalmol. Vis. Sci. 2012;53(14):3874. doi: https://doi.org/.

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

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Abstract

Purpose: : Recently genome-wide association studies have shown association of the atonal homolog 7 (ATOH7) and raftlin lipid raft linker 1 (RFTN1) genes with glaucoma-related optic disc parameters. We investigated ATOH7 and RFTN1 sequence variations in patients with primary open angle glaucoma (POAG) and their relationships with vertical cup-to-disc ratio (VCDR) and central corneal thickness (CCT).

Methods: : In 289 unrelated controls and 142 unrelated adult-onset POAG, the single exon of ATOH7 was sequenced by direct sequencing after PCR. Additional single nucleotide polymorphisms (SNP) at upstream ATOH7 (rs1900004 and rs3858145) and a RFTN1 SNP (rs690037) were genotyped by Taqman assays. Quantitative trait and disease associations were analyzed by linear and logistic regression respectively, controlling gender and age.

Results: : ATOH7 rs61854782 was associated with VCDR (P = 0.004) in controls and RFTN1 rs690037 was associated with CCT in POAG (P = 0.026). No coding mutation in ATOH7 was detected in POAG. None of the SNP investigated was associated with POAG (P-values between 0.441 and 0.996). However, SNP rs3858145 in ATOH7 showed significant interaction with RFTN1 rs690037 inPOAG (P = 0.013). ATOH7 rs3858145 GG combined with RFTN1 rs690037 TTconferred risk to glaucoma in POAG (odds ratio = 2.69).

Conclusions: : Coding mutations of ATOH7 are unlikely to be involved in adult-onset POAG. But combination of ATOH7 and RFTN1 SNPs increased risk to POAG, indicating their diversified effects in the complex genetics of glaucoma.

Keywords: gene modifiers • optic disc • intraocular pressure 
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