TY - JOUR
T1 - VAMP5 and VAMP8 are most likely not involved in primary open-angle glaucoma
AU - Brinkman, Joep F. F.
AU - Ottenheim, Cecile P. E.
AU - de Jong, Leo A. M. S.
AU - Zegers, Richard H. C.
AU - de Smet, Marc D.
AU - de Jong, Paulus T. V. M.
AU - Bergen, Arthur A. B.
AU - Brinkmann, J.F.F.
N1 - IOI oftewel NIN 19-7-2006
PY - 2005
Y1 - 2005
N2 - Purpose: To select and characterize novel POAG disease genes. On the basis of genetic position (GLC1B), expression in the optic nerve, and biochemical function (targeted membrane transport processes), we selected the human VAMP5 and VAMP8 (encoding vesicle-associated membrane proteins 5 and 8) as potential candidate disease genes for POAG. We subsequently analyzed whether or not sequence changes in VAMP5 or VAMP8 were implicated in POAG. Methods: Genomic DNA samples from 90 POAG cases and 60 controls were screened by denaturing high performance liquid chromatography of fragments amplified by the polymerase chain reaction. Direct sequencing identified nucleotide changes. Results: No nonsynonymous rare sequence variants were found in VAMP5 or VAMP8. In VAMP5, three previously identified and five new single nucleotide polymorphisms (SNPs) were found. In VAMP8, four known and two new SNPs were detected. All new SNPs did not appear to change gene function or alter gene splicing. No significant differences were found between the allele frequencies in POAG cases and controls. Conclusions: Our findings indicate that VAMP5 and VAMP8 are not involved in POAG in the Dutch population
AB - Purpose: To select and characterize novel POAG disease genes. On the basis of genetic position (GLC1B), expression in the optic nerve, and biochemical function (targeted membrane transport processes), we selected the human VAMP5 and VAMP8 (encoding vesicle-associated membrane proteins 5 and 8) as potential candidate disease genes for POAG. We subsequently analyzed whether or not sequence changes in VAMP5 or VAMP8 were implicated in POAG. Methods: Genomic DNA samples from 90 POAG cases and 60 controls were screened by denaturing high performance liquid chromatography of fragments amplified by the polymerase chain reaction. Direct sequencing identified nucleotide changes. Results: No nonsynonymous rare sequence variants were found in VAMP5 or VAMP8. In VAMP5, three previously identified and five new single nucleotide polymorphisms (SNPs) were found. In VAMP8, four known and two new SNPs were detected. All new SNPs did not appear to change gene function or alter gene splicing. No significant differences were found between the allele frequencies in POAG cases and controls. Conclusions: Our findings indicate that VAMP5 and VAMP8 are not involved in POAG in the Dutch population
KW - AMC wi-buiten
M3 - Article
C2 - 16110299
SN - 1090-0535
VL - 11
SP - 582
EP - 586
JO - Molecular vision
JF - Molecular vision
IS - 68
ER -