Purchase this article with an account.
N. Fuse, IV, A. Miyazawa, M. Gale, K. Nishida; Investigation of the Association Between WDR36 Polymorphisms and Primary Open Angle Glaucoma and Normal Tension Glaucoma . Invest. Ophthalmol. Vis. Sci. 2006;47(13):208.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
To determine whether mutations in the WD40–repeat 36 (WDR36) gene are associated with primary open–angle glaucoma (POAG) and normal tension glaucoma (NTG) in the Japanese population.
One hundred thirty–six unrelated Japanese patients with POAG and 97 with NTG were studied. Genomic DNA was extracted from leukocytes of the peripheral blood, and all the 23 coding exons including the intron–exon boundaries were amplified by polymerase chain reaction (PCR) and directly sequenced.
We did not find the reported disease–causing mutations, N355S, A449T, R529Q, and D658G, and the disease–susceptibility mutations, L25P, A163V, and Y216P. One non–synonymous amino acid change was found in exon 17 (S664L) in a POAG subject that was not detected in 112 ethnically–matched controls. Seven coding single nucleotide polymorphisms (SNPs) were identified: I264V, Q270Q, M283R, G459G, S664S, V727V, and P744P. The frequency of I264V was higher in the POAG group, but not in the NTG group, than in the control group (P=0.005). In the intronic SNPs, the frequency of the IVS13+89G/A and IVS16–30A/G variants was also significantly higher in the POAG group, but not in the NTG group, than in the control group (P=0.003, P=0.04, respectively, for the dominant effect of the mutant allele).
One non–synonymous variant, S664L, and the association of the allelic variations (IVS13+89G/A and IVS16 –30A/G) in the WDR36 gene and the presence of POAG and/or NTG in unrelated Japanese patients suggest that they are involved in the pathogenesis of POAG and NTG.
This PDF is available to Subscribers Only