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Gene-gene interaction of CFH, ARMS2, and ARMS2/HTRA1 on the risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in Chinese population
Huang, L.1,2,3; Meng, Q.1,2,3; Zhang, C.4; Sun, Y.1,2,3; Bai, Y.1,2,3; Li, S.1,2,3; Deng, X.1,2,3; Wang, B.1,2,3; Yu, W.1,2,3; Zhao, M.1,2,3; Li, X.1,2,3
刊名EYE
2015-05-01
DOI10.1038/eye.2015.32
29期:5页:691-698
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Ophthalmology
研究领域[WOS]Ophthalmology
关键词[WOS]MULTIFACTOR-DIMENSIONALITY REDUCTION ; COMPLEMENT-FACTOR-H ; JAPANESE POPULATION ; ASSOCIATION ; VARIANTS ; HTRA1 ; POLYMORPHISMS ; HAPLOTYPE ; REGION ; SUSCEPTIBILITY
英文摘要

Purpose To evaluate the association and interaction of five single-nucleotide polymorphisms (SNPs) in three genes (CFH, ARMS2, and ARMS2/HTRA1) with neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in Chinese population.

Methods A total of 300 nAMD and 300 PCV patients and 301 normal subjects participated in the present study. The allelic variants of rs800292, rs2274700, rs3750847, rs3793917, and rs1065489 were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS). Gene-gene interactions were evaluated by the data mining approach multifactor-dimensionality reduction (MDR) method.

Results The risk alleles of CFH rs800292, rs2274700, ARMS2 rs3057847, and ARMS2/HTRA1 rs3793917 showed significant difference between nAMD or PCV patients and controls (all P<0.01). The homozygosity of risk alleles for rs800292, rs2274700, rs3750847, and rs3793917 were significantly different between nAMD patients and controls (all P<0.01), and predisposed to PCV patients (all P<0.01). After cross-validation consistency (CVC) and permutation tests, the two-locus model rs2274700_rs3750847 has a balanced accuracy of 64.37% in predicting nAMD disease risk. The one-marker model, rs3750847, and two-locus model rs2274700_rs3750847 has a balanced accuracy of 66.07% and 65.89% in predicting PCV disease risk, respectively. Furthermore, CFH rs1065489 did not show significant association with nAMD (P>0.01), but was strongly associated with PCV in Chinese patients (P<0.001).

Conclusions In this study, we found that the interaction of ARMS2 and ARMS2/HTRA1 is significantly associated with nAMD, and the interaction of CFH and ARMS2 is pronounced in PCV development in Chinese population.

语种英语
WOS记录号WOS:000354070900015
项目编号2011CB510200 ; 81100666 ; 81170854 ; Z121100005312006
资助机构National Basic Research Program of China (973 Program) ; National Natural Science Foundation of China (NSFC) ; Research Fund for Science and Technology Program of Beijing
引用统计
被引频次:2[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/53846
专题北京大学第二临床医学院_眼科
北京大学第一临床医学院_泌尿外科
北京大学第一临床医学院_神经内科
北京大学第二临床医学院_药剂科
作者单位1.Peking Univ, Peoples Hosp, Dept Ophthalmol, Beijing 100044, Peoples R China
2.Minist Educ, Key Lab Vis Loss & Restorat, Beijing, Peoples R China
3.Chinese Acad Med Sci, Canc Inst & Hosp, Dept Abdominal Surg Oncol, Peking Union Med Coll, Beijing 100730, Peoples R China
4.Peking Univ, Peoples Hosp, Dept Clin Epidemiol, Beijing 100044, Peoples R China
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GB/T 7714
Huang, L.,Meng, Q.,Zhang, C.,et al. Gene-gene interaction of CFH, ARMS2, and ARMS2/HTRA1 on the risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in Chinese population[J]. EYE,2015,29(5):691-698.
APA Huang, L..,Meng, Q..,Zhang, C..,Sun, Y..,Bai, Y..,...&Li, X..(2015).Gene-gene interaction of CFH, ARMS2, and ARMS2/HTRA1 on the risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in Chinese population.EYE,29(5),691-698.
MLA Huang, L.,et al."Gene-gene interaction of CFH, ARMS2, and ARMS2/HTRA1 on the risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in Chinese population".EYE 29.5(2015):691-698.
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