AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma
AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma
复制标题
DOI：
--
复制
发表时间：
2010-01
期刊：
影响因子：
2.2
通讯作者：
Wenjing Liu;Yutao Liu;X. Qin;S. Schmidt;M. Hauser;R. Allingham;R. Allingham
中科院分区：
文献类型：
--
作者：
Wenjing Liu;Yutao Liu;X. Qin;S. Schmidt;M. Hauser;R. Allingham;R. Allingham
目的 最近的证据支持脑脊液 (CSF) 压力降低在原发性开角型青光眼 (POAG) 发病机制中的作用。我们研究了对 CSF 产生很重要的两个候选基因（水通道蛋白 1 (AQP1) 和溶质载体家族 4、碳酸氢钠转运蛋白成员 10 (SLC4A10)）中的变异与白种人群体中 POAG 的关联。方法 POAG 受试者 (n=382) 符合青光眼性视神经病变的标准，伴有一致的视野缺损。眼压不用作纳入标准。对照受试者（n = 363）不符合任何纳入标准，并且没有青光眼家族史。使用等位基因区分测定，对 POAG 和对照受试者中 AQP1 和 SLC4A10 的 11 个标记单核苷酸多态性 (SNP) 进行基因分型。使用针对性别进行调整的逻辑回归来比较 POAG 和对照受试者之间的基因型频率。结果 POAG 和对照受试者之间 AQP1 和 SLC4A10 中任何测试的 SNP 的基因型频率均无统计学显着差异 (p>0.05)。结论 在白种人群体中，AQP1 或 SLC4A10 基因的常见序列变异与 POAG 之间没有关联。这是第一项调查这两个候选基因与 POAG 风险增加之间关联的研究。
Purpose Recent evidence supports the role of reduced cerebrospinal fluid (CSF) pressure in the pathogenesis of primary open-angle glaucoma (POAG). We investigated the association of variants in two candidate genes that are important in CSF production, aquaporin 1 (AQP1) and solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), with POAG in the Caucasian population. Methods POAG subjects (n=382) met the criteria of glaucomatous optic neuropathy with consistent visual field loss. Intraocular pressure was not used as an inclusion criterion. Control subjects (n=363) did not meet any of the inclusion criteria and had no family history of glaucoma. Eleven tagging single nucleotide polymorphisms (SNPs) for AQP1 and SLC4A10 were genotyped in the POAG and control subjects, using allelic discrimination assays. Genotype frequencies were compared between the POAG and control subjects, using logistic regression adjusted for gender. Results There was no statistically significant difference in genotype frequencies between POAG and control subjects for any of the tested SNPs in AQP1 and SLC4A10 (p>0.05). Conclusions There was no association between common sequence variants in the AQP1 or SLC4A10 genes and POAG in the Caucasian population. This is the first study to investigate the association between these two candidate genes and increased risk for POAG.