Variation near complement factor I is associated with risk of advanced AMD
Variation near complement factor I is associated with risk of advanced AMD
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DOI：
10.1038/ejhg.2008.140
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发表时间：
2009-01-01
影响因子：
5.2
通讯作者：
Seddon, Johanna M.
中科院分区：
文献类型：
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作者：
Fagerness, Jesen A.;Maller, Julian B.;Seddon, Johanna M.
对晚期年龄相关性黄斑变性进行了一项病例对照关联研究，以探索通过关联确定的几个感兴趣区域。该分析确定了4号染色体上补体因子I的3'端的单核苷酸多态性，显示出显著的相关性（P < 10（-7））。对与检测到的关联连锁不平衡的编码外显子进行测序。没有发现明显的功能变化，可能是协会的近因，这表明一个非编码的调节机制。
A case-control association study for advanced age-related macular degeneration was conducted to explore several regions of interest identified by linkage. This analysis identified a single nucleotide polymorphism just 3' of complement factor I on chromosome 4 showing significant association (P < 10(-7)). Sequencing was performed on coding exons in linkage disequilibrium with the detected association. No obvious functional variation was discovered that could be the proximate cause of the association, suggesting a noncoding regulatory mechanism.