公开(公告)号：US20100145223A1

公开(公告)日：2010-06-10

申请号：US12617256

申请日：2009-11-12

申请人： Eric A. Postel ,  R. Keith Shuler ,  Jennifer Vaughn Caldwell ,  Michael Hauser ,  Silke Schmidt

发明人： Eric A. Postel ,  R. Keith Shuler ,  Jennifer Vaughn Caldwell ,  Michael Hauser ,  Silke Schmidt

IPC分类号： A61B3/14 ,  A61F9/00 ,  A61B3/10

CPC分类号： A61K31/00

摘要： Examination of 956 age-related macular degeneration cases showed that the complement factor H variant (Y402H, C allele at rs1061170) increases risk for the development of peripheral reticular pigmentary change. AMD phenotypes of 796 carriers of the CFH Y402H variant were compared to the AMD phenotypes of 160 non-carriers. Of 34 phenotypic features analyzed, only peripheral reticular pigmentary change (PRPC) was associated with this CFH variant (P-value 0.0006). The proportion of AMD cases with PRPC correlated with the number of CFH risk C alleles in a dose-response fashion. The association of CFH Y402H polymorphism with PRPC suggests that AMD changes are not limited to the macula. Current AMD grading methods assess only the macula; peripheral retinal changes should also be included in grading methods. PRPC may be used as a surrogate of a high-risk genotype and may be used for diagnostic, therapeutic, and research purposes.

摘要翻译： 检查956例年龄相关性黄斑变性病例显示，补体因子H变体（Y402H，C等位基因rs1061170）增加了外周网状色素变化的发展风险。 将CF9Y402H变体的796个载体的AMD表型与160个非载体的AMD表型进行比较。 在分析的34个表型特征中，只有周围网状色素变化（PRPC）与该CFH变体相关（P值0.0006）。 AMD病例与PRPC的比例与剂量反应方式与CFH风险C等位基因数量相关。 CFH Y402H多态性与PRPC的关联表明AMD的变化并不局限于黄斑。 目前AMD分级方法仅评估黄斑; 周边视网膜变化也应包括在分级方法中。 PRPC可以用作高风险基因型的替代物，并且可以用于诊断，治疗和研究目的。