对日本人群中原发性开角型青光眼、正常眼压型青光眼和发育性青光眼的 VAV2 和 VAV3 基因变异进行分子遗传学分析。

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

机构信息

Department of Ophthalmology, The Fourth Affiliated Hospital, China Medical University, 11 Xinhua Road, Heping District, Shenyang, Liaoning 110005, China.

出版信息

Biochem Biophys Res Commun. 2013 Mar 15;432(3):509-12. doi: 10.1016/j.bbrc.2013.02.003. Epub 2013 Feb 10.

DOI:10.1016/j.bbrc.2013.02.003

PMID:23402756

Abstract

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.

摘要

VAV2 和 VAV3 基因已被认为与日本人原发性开角型青光眼（POAG）有关。我们研究了 168 名无血缘关系的原发性开角型青光眼（POAG）日本患者、163 名无血缘关系的正常眼压青光眼（NTG）日本患者、45 名无血缘关系的发育性青光眼（DG）日本患者和 180 名种族匹配的正常对照者，以确定 VAV2 鸟嘌呤核苷酸交换因子（VAV2）和 VAV3 鸟嘌呤核苷酸交换因子（VAV3）基因中的变异是否与日本人的 POAG、NTG 或 DG 相关。从外周血白细胞中提取基因组 DNA，通过聚合酶链反应（PCR）扩增 VAV2 和 VAV3 基因，并直接测序。鉴定出两个变体：VAV2 中的 rs2156323 和 VAV3 中的 rs2801219。这些变体以及无关日本患者中 POAG、NTG 和 DG 的患病率表明，这些变体不参与 POAG、NTG 或 DG 的发病机制。