Association Study of Complement Factor H, C2, Cfb, and C3 and Age-Related Macular Degeneration in a Han Chinese Population

Liu, Xiaoqi; Zhao, Peiquan; Tang, Shibo; Lü, Fang; Hu, Jianbin; Lei, Chuntao; Yang, Xian; Lin, Ying; S.K., Edmond; Jy, Yang; Zhang, Dingding; Shi, Yi; Li, Tao; Chen, Yiye; Fan, Yinchuan; Yang, Zhenglin

doi:10.1097/iae.0b013e3181cea676

Cited by 71 publications

(68 citation statements)

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“…32,33 Genetic variants in the Complement Factor H (CFH) gene on chromosome 1q32 and two tightly linked genes-ARMS2 and HTRA1 on 10q26 have been identified as major contributors to nAMD development. [14][15][16]34 Our study identified that CFH rs800292 and rs2274700 showed significant difference between nAMD or PCV patients and controls, which was consistent with previous study in our laboratory. 35 We also identified that CFH rs1065489 was a risk factor in PCV, which had been proved in Japanese population.…”

Section: Discussionsupporting

confidence: 82%

“…CFH has been identified by various studies as a major AMD susceptible gene in the Chinese, Japanese, and Caucasian populations. [14][15][16][17] Previous studies have proved that multiple variants of CFH gene, such as I62V (rs800292), are associated with the risk of nAMD in different ethnic groups. [18][19][20][21] Beyond the complement pathway, the Age-Related Maculopathy Susceptibility 2 (ARMS2) locus at chromosome 10q26 has been implicated as another major genetic contributor to the nAMD disease process.…”

Section: Introductionmentioning

confidence: 99%

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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

Meng

Zhang

et al. 2015

Eye

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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 Po0.01). The homozygosity of risk alleles for rs800292, rs2274700, rs3750847, and rs3793917 were significantly different between nAMD patients and controls (all Po0.01), and predisposed to PCV patients (all Po0.01). 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 (P40.01), but was strongly associated with PCV in Chinese patients (Po0.001).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.

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Section: Discussionsupporting

confidence: 82%

Section: Introductionmentioning

confidence: 99%

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

Meng

Zhang

et al. 2015

Eye

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“…6 Many independent studies showed that the CFH gene has been identified as a causal polymorphism in western and Chinese populations. [6][7][8][9]23,24 Our results showed strong evidence that the genotypes and the haplotypes of two SNPs (rs800292 and rs1410996) of the CFH variant associate with AMD, and the joint effects might be strong for these two SNPs of CFH, but this finding must be replicated in future studies.…”

Section: Discussionmentioning

confidence: 74%

Association between Polymorphisms of Complement Pathway Genes and Age-Related Macular Degeneration in a Chinese Population

Qin

Chen

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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PURPOSE.We assessed the association between complement pathway genes and age-related macular degeneration (AMD) in a Chinese population.METHODS. In a case-control study, 165 AMD patients and 216 unrelated controls were recruited from two hospitals in central China. We selected and genotyped six single nucleotide polymorphisms (SNPs) of four complement pathway genes, including rs800292 and rs1410996 of complement H (CFH), rs9332739 of complement 2 (C2), rs4151667 of complement factor B (CFB), and rs2241394 and rs2230199 of complement 3 (C3). The associations between SNPs and AMD, adjusted by age and sex, were assessed by using logistic regression models and haplotype association analysis.RESULTS. In our study, two SNPs of CFH and their haplotypes were associated significantly with AMD, and the adjusted odd ratios (ORs) were 2.45 (95% confidence interval [CI] 1.25-4.79) for rs800292 (genotype GG versus AA), 2.49 (95% CI 1.24-5.00) for rs1410996 (genotype TT versus CC), and 4.45 (95% CI 2.32-8.55) for haplotype block of rs800292-rs1410996 (haplotype G-C versus A-C), respectively. The haplotype of C2/CFB also was associated significantly with AMD, and the adjusted OR was 8.86 (95% CI 1.88-41.69) for the haplotype block of rs9332739-rs4151667 (haplotype G-A versus G-T), though no relationship was found in genotype association analysis of the two SNPs of C2/CFB. With the sample size of our study, no relationship was found for AMD and the two SNPs of C3. A ge-related macular degeneration (AMD), which causes damage to the retina and results in a loss of vision in the center of the visual field, is the leading cause of irreversible visual decreases and vision impairment in people over age 50 in developed countries. CONCLUSIONS. Gene variants in CFH and

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“…The association between SNPs in the C3 gene and AMD susceptibility has been established in multiple studies (Maller et al, 2007;Spencer et al, 2008;Park et al, 2009;Liu et al, 2010). Rs2230199 is a SNP in the C3 gene, which is a central component of all three pathways of complement activation -the alternative, classical, and mannose binding lectin pathways.…”

Section: Discussionmentioning

confidence: 99%

Association between a functional genetic polymorphism (rs2230199) and age-related macular degeneration risk: a meta-analysis

et al. 2015

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ABSTRACT. The association between the rs2230199 C>G single nucleotide polymorphism (SNP) in complement component 3 and agerelated macular degeneration (AMD) risk has been examined extensively but the results are not consistent among studies. The aim of this study was to perform a meta-analysis of all available studies on this SNP in relation to AMD. The comprehensive databases of PubMed, Medline, Web of Knowledge, CNKI, and Google Scholar were searched for case-control studies investigating the association between the rs2230199 polymorphism and AMD susceptibility. ORs with 95%CIs were estimated to assess the 12568 M.X. Zhang et al.©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 12567-12576 (2015) association. Sensitivity analysis, test of heterogeneity, cumulative metaanalysis, and assessment of bias were also performed. A total of 15 published studies including 5593 cases and 5181 controls were used in this meta-analysis. Overall, the rs2230299 SNP was significantly associated with the risk of AMD in the overall population under the additive model (OR = 1.571, 95%CI = 1.414-1.745, P = 0.000), dominant model (OR = 1.681, 95%CI = 1.521-1.858, P = 0.000), and allelic model (OR = 1.597, 95%CI = 1.470-1.734, P = 0.000). In the subgroup analysis by ethnicity, the same results were found in Caucasian populations, while no significant correlations were found in Asian populations for all comparison models. In conclusion, our meta-analysis provides evidence that the rs2230199 polymorphism contributes to the development of AMD. Further large-scale multicenter epidemiological studies are warranted to confirm this finding.

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Association Study of Complement Factor H, C2, Cfb, and C3 and Age-Related Macular Degeneration in a Han Chinese Population

Cited by 71 publications

References 36 publications

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

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

Association between Polymorphisms of Complement Pathway Genes and Age-Related Macular Degeneration in a Chinese Population

Association between a functional genetic polymorphism (rs2230199) and age-related macular degeneration risk: a meta-analysis

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