Microsatellite analysis of the GLC1B locus on chromosome 2 points to NCK2 as a new candidate gene for normal tension glaucoma
Microsatellite analysis of the GLC1B locus on chromosome 2 points to NCK2 as a new candidate gene for normal tension glaucoma
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DOI：
10.1136/bjo.2008.139980
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发表时间：
2008-09-01
影响因子：
4.1
通讯作者：
Mizuki, N.
中科院分区：
文献类型：
--
作者：
Akiyama, M.;Yatsu, K.;Mizuki, N.
目的：本研究的目的是探讨正常眼压性青光眼与2号染色体上的青光眼1型开角型B（GLC 1 B）的相关性。有许多报道描述了原发性开角型青光眼（POAG）的关联或连锁研究结果，其中GLC 1B是与正常或中度升高的眼内压相关的位点之一。然而，很少有关于基因或定义的基因组区域与正常眼压性青光眼（这是日本青光眼的主要类型）相关的报道。GLC 1B位点被假设为正常眼压性青光眼的致病区域。方法：从日本正常眼压性青光眼患者（n= 143）和健康对照者（n= 103）的全血中提取基因组DNA。结果如下：15个微卫星标记内和/或附近的GLC 1B基因座进行基因分型，并分析其与正常眼压性青光眼。两个标记D2 S2264和D2 S176具有显著的正相关性。结论：D2 S176标记具有最强的显著关联，并且它位于距离最近的基因NCK 2 24 kb处，NCK 2现在成为未来研究其与正常眼压性青光眼关联的重要新候选基因。
Aims: The aim of this study was to investigate the association between normal tension glaucoma and the candidate disease locus glaucoma 1, open angle, B (GLC1B) on chromosome 2. There are many reports describing the results of association or linkage studies for primary open angle glaucoma (POAG), with GLC1B as one of the loci associated with normal or moderately elevated intraocular pressure. However, there are few reports about the association of genes or defined genomic regions with normal tension glaucoma, which is the leading type of glaucoma in Japan. The GLC1B locus is hypothesized to be a causative region for normal tension glaucoma. Methods: Genomic DNA was extracted from whole blood of normal tension glaucoma (n= 143) and healthy controls (n= 103) of Japanese origin. Results: Fifteen microsatellite markers within and/or near to the GLC1B locus were genotyped, and their association with normal tension glaucoma was analysed. Two markers D2S2264 and D2S176 had significant positive associations. Conclusion: The D2S176 marker had the strongest significant association and it is located 24 kb from the nearest gene NCK2, which now becomes an important new candidate gene for future studies of its association with normal tension glaucoma.