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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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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).
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.
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).
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.
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