Molecular genetic analysis of primary open-angle glaucoma, normal tension glaucoma, and developmental glaucoma for the VAV2 and VAV3 gene variants in Japanese subjects

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.

► Studied 168 POAG, 163 NTG, and 45 DG in unrelated patients and 180 controls. ► Sequenced variants in the VAV2 and VAV3 genes. ► rs2156323 in VAV2 gene is not involved in the pathogenesis of POAG, NTG, or DG. ► rs2801219 in VAV3 gene is not involved in the pathogenesis of POAG, NTG, or DG.