|Different Hereditary Contribution of the CFH Gene Between Polypoidal Choroidal Vasculopathy and Age-Related Macular Degeneration in Chinese Han People|
|Huang, Lvzhen1,2,3; Li, Yingjie4; Guo, Shicheng5,6,7; Sun, Yaoyao1,2,3; Zhang, Chunfang8; Bai, Yujing1,2,3; Li, Shanshan1,2,3; Yang, Fei1,2,3; Zhao, Min1,2,3; Wang, Bin1,2,3; Yu, Wenzhen1,2,3; Zhao, Mingwei1,2,3; Khor, Chiea Chuen9; Li, Xiaoxin1,2,3|
|关键词||Neovascular Age-related Macular Degeneration Polypoidal Choroidal Vasculopathy Complement Factor h Single-nucleotide Polymorphism|
|刊名||INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE|
|WOS标题词||Science & Technology|
|关键词[WOS]||GENOME-WIDE ASSOCIATION ; SUSCEPTIBILITY ; MACULOPATHY ; VARIANTS|
PURPOSE. To investigate whether 11 variants in complement factor H gene contributed differently in patients with neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) of Chinese descent.
METHODS. We performed a case-control study in a group of Chinese patients with nAMD (n = 344) or PCV (n = 368) and contrasted the results against an independent control group comprising 511 mild cataract patients without any evidence of age-related maculopathy. Association analysis of allele and genotype frequencies was performed for 11 haplotypetagging single-nucleotide polymorphisms (SNPs) at the CFH locus (rs1061170, rs1329428, rs1410996, rs2284664, rs375396, rs529825, rs551397, rs7540032, rs800292, rs2274700, and rs1065489). Multinomial logistic regression analyses were performed to estimate and compare the effect of these 11 CFH polymorphisms on AMD and PCV, using the wild-type genotype as reference. Differences in the observed genotypic distributions between cases and controls were tested by using chi(2) tests, with age and sex adjusted for using logistic regression.
RESULTS. CFH rs1065489 was not significantly associated with the nAMD phenotype in Chinese collections either on univariate or multivariate analysis (P > 0.05 for all comparisons). The other 10 SNPs of CFH were significantly associated with the nAMD phenotype. As for PCV, all 11 SNP markers were significantly associated with risk of PCV before or after correction for age and sex differences. Eight of the 11 SNP markers showed significant evidence of heterogeneity between AMD and PCV (P < 0.05 for all comparisons).
CONCLUSIONS. Our data suggest that the genetic architecture at the CFH locus is complex with some markers showing significant skewing of the genotypes toward nAMD or PCV in Asians. This further supports the clinical observation that nAMD and PCV could have distinct pathogenesis mechanisms, which will require larger studies to accurately dissect.
|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|
|作者单位||1.Minist Educ, Key Lab Vis Loss & Restorat, Beijing, Peoples R China|
2.Peking Univ, Peoples Hosp, Dept Ophthalmol, Beijing 100044, Peoples R China
3.Beijing Key Lab Diag & Therapy Retinal & Choroid, Beijing, Peoples R China
4.Chinese Acad Med Sci, Peking Union Med Coll, Canc Inst & Hosp, Dept Abdominal Surg Oncol, Beijing 100730, Peoples R China
5.Fudan Univ, Sch Life Sci, State Key Lab Genet Engn, Shanghai 200433, Peoples R China
6.Fudan Univ, Sch Life Sci, Minist Educ, Key Lab Contemporary Anthropol, Shanghai 200433, Peoples R China
7.Univ Texas Houston, Sch Publ Hlth, Ctr Human Genet, Houston, TX USA
8.Peking Univ, Peoples Hosp, Dept Clin Epidemiol, Beijing 100044, Peoples R China
9.Natl Univ Singapore, Singapore Eye Res Inst, Singapore 117548, Singapore
|Huang, Lvzhen,Li, Yingjie,Guo, Shicheng,et al. Different Hereditary Contribution of the CFH Gene Between Polypoidal Choroidal Vasculopathy and Age-Related Macular Degeneration in Chinese Han People[J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE,2014,55(4):2534-2538.|
|APA||Huang, Lvzhen.,Li, Yingjie.,Guo, Shicheng.,Sun, Yaoyao.,Zhang, Chunfang.,...&Li, Xiaoxin.(2014).Different Hereditary Contribution of the CFH Gene Between Polypoidal Choroidal Vasculopathy and Age-Related Macular Degeneration in Chinese Han People.INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE,55(4),2534-2538.|
|MLA||Huang, Lvzhen,et al."Different Hereditary Contribution of the CFH Gene Between Polypoidal Choroidal Vasculopathy and Age-Related Macular Degeneration in Chinese Han People".INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 55.4(2014):2534-2538.|