Interactive effects of ATOH7 and RFTN1 in association with juvenile primary open-angle glaucoma / 国际眼科杂志(Guoji Yanke Zazhi)

@#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.

Advances in molecular genetic study of primary open angle glaucoma / 中华实验眼科杂志

Primary open angle glaucoma (POAG) is a group of disorders characterized by loss of retinal ganglion cells (RGCs) associated with optic nerve degeneration and visual field damage.With the application of molecular biology in ophthalmology,at least 20 chromosome loci have been identified to be linked to POAG.Only 3 causative genes were identified from these loci,i.e.myocilin (MYOC),optineurin (OPTN) and WD repeat domain 36 (WDR36),which altogether account for less than 10％ of POAG.Only a portion of POAG Complies with Mendelian inheritance,and a considerable fraction results from a large number of variants in multiple genes,each contributing less effects.The main technological approaches include family linkage analysis,genome-wide scan,casecontrol association study,etc.Association studies found at least 16 genes to be related to POAG,but reports on glaucoma-causing effects of these genes are conflicting.In this article,we reviewed the POAG related genes,especially the four well known causative genes of MYOC,OPTN,WDR36,and CA V1/CA V2,in terms of their locations,structures,functions,and mutations.