Investigation of the association between SLC1A3 gene polymorphisms and normal tension glaucoma-猫眼课题宝

DOI：

发表时间：

2011-03

期刊：

Molecular Vision

影响因子：

2.2

通讯作者：

中科院分区：

医学4区

文献类型：

作者：

Reiko Yasumura;A. Meguro;M. Ota;E. Nomura;R. Uemoto;K. Kashiwagi;F. Mabuchi;H. Iijima;K. Kawase;Tetsuya Yamamoto;Makoto Nakamura;A. Negi;T. Sagara;T. Nishida;M. Inatani;H. Tanihara;M. Aihara;M. Araie;T. Fukuchi;H. Abe;T. Higashide;K. Sugiyama;T. Kanamoto;Y. Kiuchi;A. Iwase;S. Ohno;H. Inoko;N. Mizuki

目的研究编码谷氨酸-天冬氨酸转运蛋白的溶质载体家族 1，成员 3 (SLC1A3) 基因是否与日本患者的正常眼压性青光眼 (NTG) 相关。方法纳入 295 名日本 NTG 患者和 518 名日本健康对照者。选择表现出相对早期 NTG 发病的患者是因为早期发病表明遗传因素可能表现出更强的参与。我们对 SLC1A3 中的 5 个单核苷酸多态性 (SNP) 进行了基因分型，并评估了病例和对照之间的等位基因和基因型多样性。结果病例与对照之间SLC1A3等位基因频率和基因型频率差异无统计学意义。结论我们的研究显示 SLC1A3 和 NTG 之间没有关联，表明 SLC1A3 基因可能不是 NTG 发病机制的相关因素。

Purpose To investigate whether the solute carrier family 1, member 3 (SLC1A3) gene, which encodes the glutamate aspartate transporter, is associated with normal tension glaucoma (NTG) in Japanese patients. Methods Two hundred and ninety-five Japanese patients with NTG and 518 Japanese healthy controls were recruited. Patients exhibiting comparatively early NTG onset were selected because early onset suggests that genetic factors may show stronger involvement. We genotyped 5 single-nucleotide polymorphisms (SNPs) in SLC1A3 and assessed the allelic and genotypic diversity among cases and controls. Results There were no statistically significant differences in the frequency of SLC1A3 alleles and genotypes between cases and controls. Conclusions Our study showed no association between SLC1A3 and NTG, suggesting that the SLC1A3 gene may not be an associated factor in NTG pathogenesis.

Investigation of the association between SLC1A3 gene polymorphisms and normal tension glaucoma

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