TY - JOUR
T1 - Molecular genetic analysis of primary open-angle glaucoma, normal tension glaucoma, and developmental glaucoma for the VAV2 and VAV3 gene variants in Japanese subjects
AU - Shi, Dong
AU - Takano, Yoshimasa
AU - Nakazawa, Toru
AU - Mengkegale, Min Ge
AU - Yokokura, Shunji
AU - Nishida, Kohji
AU - Fuse, Nobuo
N1 - Funding Information:
The authors thank Dr. Duco I. Hamasaki for editing the manuscript. This study was supported in part by a Grant-In-Aid for Scientific Research from the Ministry of Education, Science, and Culture of the Japanese Government ( NF; C-22591928 ), by grant from the Ministry of Health, Labor, and Welfare of Japan to N.F., and by a grant from the Japan-China Medical Association to D.S.
PY - 2013/3/15
Y1 - 2013/3/15
N2 - The VAV2 and VAV3 genes have been implicated as being causative for primary open angle glaucoma (POAG) in the Japanese. We studied 168 unrelated Japanese patients with primary open-angle glaucoma (POAG), 163 unrelated Japanese patients with normal tension glaucoma (NTG), 45 unrelated Japanese patients with developmental glaucoma (DG), and 180 ethnically matched normal controls, to determine whether variants in the vav 2 guanine nucleotide exchange factor (VAV2) and vav 3 guanine nucleotide exchange factor (VAV3) genes are associated with POAG, NTG, or DG in the Japanese. Genomic DNA was extracted from peripheral blood leukocytes, and variants in the VAV2 and VAV3 genes were amplified by polymerase chain reaction (PCR) and directly sequenced. Two variants were identified: rs2156323 in VAV2 and rs2801219 in VAV3. The variants and the prevalence of POAG, NTG, and DG in unrelated Japanese patients indicated that the variants were not involved in the pathogenesis of POAG, NTG, or DG.
AB - The VAV2 and VAV3 genes have been implicated as being causative for primary open angle glaucoma (POAG) in the Japanese. We studied 168 unrelated Japanese patients with primary open-angle glaucoma (POAG), 163 unrelated Japanese patients with normal tension glaucoma (NTG), 45 unrelated Japanese patients with developmental glaucoma (DG), and 180 ethnically matched normal controls, to determine whether variants in the vav 2 guanine nucleotide exchange factor (VAV2) and vav 3 guanine nucleotide exchange factor (VAV3) genes are associated with POAG, NTG, or DG in the Japanese. Genomic DNA was extracted from peripheral blood leukocytes, and variants in the VAV2 and VAV3 genes were amplified by polymerase chain reaction (PCR) and directly sequenced. Two variants were identified: rs2156323 in VAV2 and rs2801219 in VAV3. The variants and the prevalence of POAG, NTG, and DG in unrelated Japanese patients indicated that the variants were not involved in the pathogenesis of POAG, NTG, or DG.
KW - DG
KW - Gene screening
KW - NTG
KW - POAG
KW - VAV2
KW - VAV3
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U2 - 10.1016/j.bbrc.2013.02.003
DO - 10.1016/j.bbrc.2013.02.003
M3 - Article
C2 - 23402756
AN - SCOPUS:84874969458
VL - 432
SP - 509
EP - 512
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 3
ER -