Interactive effects of <i>ATOH</i>7 and <i>RFTN</i>1 in association with juvenile primary open-angle glaucoma

• Main Authors: De-Gui Wang, Jian-Huan Chen, Ming-Zhi Zhang, Yu-Qian Zheng
• Format: Article
• Language: English
• Published: Press of International Journal of Ophthalmology (IJO PRESS) 2017-03-01
• Series: Guoji Yanke Zazhi
• Subjects: juvenile primary open angle glaucoma; case-control study; gene
• Online Access: http://ies.ijo.cn/cn_publish/2017/3/201703012.pdf

AIM:To study <i>ATOH</i>7 and <i>RFTN</i>1 sequence variations in patients with juvenile primary open-angle glaucoma(JOAG). <p>METHODS: In 298 controls(age≥60y)and 52 JOAG(age<35y), we collected samples from the patients and controls of study, extracted the DNA, and then the single exon of <i>ATOH</i>7 was sequenced by direct sequencing. Additional single nucleotide polymorphisms the RFTN1 SNP(rs690037)and at upstream <i>ATOH</i>7(rs1900004 and rs3858145)were genotyped by Taqman assay. <p>RESULTS: No any coding mutation was detected in JOAG. There were no significance in allele frequencies and haplotypes between JOAG and control group of rs7916697, rs61854782, rs1900004、rs3858145 and rs690037, so no SNP was associated with JOAG(<i>P</i>>0.05). <p>CONCLUSION: Although preliminary study has showed combination of <i>ATOH</i>7 and <i>RFTN</i>1 SNPs could increase the risk of getting adult-onset primary open angle glaucoma, <i>ATOH</i>7 and <i>RFTN</i>1 are not associated with juvenile primary open-angle glaucoma in this study, so different types of open-angle glaucoma may be differences in genetic mechanism and be worthy of further study.