Liu Wenjing, Liu Yutao, Qin Xue-Jun, Schmidt Silke, Hauser Michael A, Allingham R Rand
Center for Human Genetics, Duke University Eye Center, Duke University Medical Center, Durham, NC 27710, USA.
Mol Vis. 2010 Jan 20;16:93-7.
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.
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.
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).
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.
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。我们研究了在脑脊液生成中起重要作用的两个候选基因水通道蛋白1（AQP1）和溶质载体家族4碳酸氢钠转运体成员10（SLC4A10）的变异与高加索人群POAG的关联。
POAG患者（n = 382）符合青光眼性视神经病变且视野缺损一致的标准。眼压不作为纳入标准。对照受试者（n = 363）不符合任何纳入标准且无青光眼家族史。使用等位基因鉴别分析对POAG患者和对照受试者中的AQP1和SLC4A10的11个标签单核苷酸多态性（SNP）进行基因分型。使用经性别调整的逻辑回归比较POAG患者和对照受试者之间的基因型频率。
AQP1和SLC4A10中任何测试SNP的POAG患者和对照受试者之间的基因型频率没有统计学上的显著差异（p>0.05）。
在高加索人群中，AQP1或SLC4A10基因的常见序列变异与POAG之间没有关联。这是第一项研究这两个候选基因与POAG风险增加之间关联的研究。
