Association of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients

Yücel, Didem; Yılmaz, Murat; Durukan, Ali Hakan; Özgül, Rıza Köksal

doi:10.3109/13816810.2012.660225

Cited by 10 publications

(6 citation statements)

References 49 publications

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“…Furthermore, the TT genotype was more common than the TC and CC genotypes in the patient group. It is important to emphasize that the homozygote variant genotype CC was very rare both in the control and patient groups, in concordance with the study of Yucel et al [37]. Based on our findings, it might be suggested that the CFH Y402H polymorphism is associated with exudative AMD in the Turkish population, but in contrast to the arguments of other studies it might have a protective role for disease formation.…”

Section: Discussioncontrasting

confidence: 56%

“…Soysal et al [36] reported in their study with 147 AMD patients and 105 control subjects that the CFH Y402H C allele is associated with AMD. Similarly, Yucel et al [37] compared Y402H polymorphisms of 95 exudative AMD patients with 87 healthy controls and reported CFH Y402H as a major risk gene for exudative AMD. In contrast with those observations, the variant C allele frequency of controls was found to be significantly higher compared with the patient group in our study.…”

Section: Discussionmentioning

confidence: 99%

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CFH Y402H and VEGF Polymorphisms and Anti-VEGF Treatment Response in Exudative Age-Related Macular Degeneration

et al. 2016

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Purpose: The aim of this study was to evaluate the prevalence of single nucleotide polymorphisms (SNPs) in complement factor H (CFH) Y402H and VEGF rs2146323 and rs699947 in exudative age-related macular degeneration (AMD) and their relationship with intravitreal anti-VEGF treatment response. Methods: A total of 109 exudative AMD patients and 70 controls were included. Patients were classified as ‘good responders' and ‘nonresponders' based on the changes in best corrected visual acuity, central foveal thickness, lesion size, and the persistence of retinal hemorrhage after three dosages of anti-VEGF. We examined CFH, VEGF rs2146323 and rs699947 SNPs, and plasma interleukin-6 (IL-6) levels in both groups. Results: In total, 42 patients (38.5%) and 11 controls (15.7%) had homozygote wild genotype TT (p = 0.002). The variant C allele frequency was 45% in controls and 31.7% in patients (p = 0.011). A and C allele frequencies for VEGF rs699947 and rs2416323 were similar between the control and patient groups (p = 0.947, p = 0.378). Both SNPs were similar in responders and nonresponders. No significant difference was detected between plasma IL-6 levels of the control and AMD groups (p = 0.594), but the levels were higher in good responders than nonresponders (p < 0.001). Conclusion: CFH Y402H SNP might be protective for AMD in the Turkish population. VEGF rs2146323 and rs699947 SNPs have no relationship to exudative AMD formation, and none of these seem to have any effect on anti-VEGF response.

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Section: Discussioncontrasting

confidence: 56%

Section: Discussionmentioning

confidence: 99%

CFH Y402H and VEGF Polymorphisms and Anti-VEGF Treatment Response in Exudative Age-Related Macular Degeneration

et al. 2016

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“…The role of genetic factors in the etiology of AMD is documented, and several predisposing SNPs have been proposed to be associated with AMD ( Table 3 ). 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 The most important SNPs are CFH gene on chromosome 1 and LOC387715/ARMS2/HTRA1 on chromosome 10. 11 , 12 , 13 , 14 , 15 , 16 , 17 , 23 CFH gene expression affects the binding affinity of CFH glycoprotein to C-reactive protein and heparin and regulates its anti-inflammatory effects.…”

Section: Discussionmentioning

confidence: 99%

“…In some reports of Chinese and Turkish population samples, the frequencies are lower than what has been reported in other ethnic groups, especially Caucasians. 23 , 28 In this study, the frequencies of some of the previously reported SNPs in neovascular AMD patients were evaluated in a sample of an Iranian population.…”

Section: Discussionmentioning

confidence: 99%

Complement factor H and LOC387715/ARMS2/HTRA1 variant's frequencies and phenotypic associations in neovascular age-related macular degeneration, a pilot study

Karkhane

Ahmadraji

Esfahani

et al. 2016

Journal of Current Ophthalmology

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PurposeTo evaluate the frequency of 12 single nucleotide polymorphisms (SNPs) of complement factor H (CFH) and LOC387715/ARMS2/HRTA1 and their association with some of the presenting clinical features of neovascular age-related macular degeneration (AMD).MethodsIn this prospective non-comparative case series forty four naïve patients with neovascular AMD were genotyped using sequencing or Sequenom iPLEX technology. Descriptive tests were used for displaying the magnitude of each allele, gender distribution, and age at diagnosis. Fisher exact test was used to evaluate the correlation between visual acuity (VA) and different alleles. Also Kruskal-Wallis test was used for comparison between age at the time of diagnosis and different alleles.ResultsThe most frequent SNP among studied patients was rs1061147 with 100% frequency rate. The least common was rs2672598 with a frequency of 52.27%. Only the allele rs800292 of CFH locus on 1q32 was associated with VA better than 20/200 (p value = 0.034). The frequency of this allele was 77.27% (34 patients) in this study. There was no significant association between any of alleles, and VA worse than 20/200(p > 0.05). Fifteen patients had bilateral exudative AMD (34.09%). There was no significant difference between alleles in bilateral neovascular AMD and unilateral disease. Also bilateral and unilateral patients were not different in terms of age, gender or VA (p value: 0.330, 0.764 and 0.456 respectively). There was also no significant association between any of SNPs and bilaterality of disease.ConclusionWe designated the frequencies of SNPs of CFH and LOC387715/ARMS2/HRTA1 in neovascular AMD in a sample of Iranian patients. Only the allele rs800292 of CFH locus on chromosome 1q32 was associated with better VA.

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“…CFH can combine with C3b, inhibiting the formation of alternative-pathway C3 convertase, regulating and controlling the extent of complement activation (Yücel et al, 2012). Environmental factors such as obesity and smoking can interact with the CFH gene polymorphism, leading to reduced CFH expression and activation of the complement system, and therefore significantly increasing the concentrations of C5b-9 (membrane attack complex) and C3b (Atmaca et al, 2011;Schmitz-Valckenberg et al, 2011;Cruz-Guilloty et al, 2014).…”

Section: Discussionmentioning

confidence: 99%

Clinical study of the correlation between complement factor H polymorphism and age-related macular degeneration

Dong

Zhang

et al. 2016

Genet. Mol. Res.

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ABSTRACT. This study aimed to investigate the correlation between age-related macular degeneration (AMD) of the liver-kidney yindeficiency type and complement factor H (CFH) polymorphism, and to determine whether the C allele of the T1277C (Y402H) variant is a risk factor for this condition. We performed a case-control investigation of 60 patients with liver-kidney yin-deficiency AMD and 60 normal control subjects. Peripheral blood was collected from each participant for DNA extraction. Following amplification by polymerase chain reaction, the DNA samples were sequenced, and polymorphism of the CFH gene was examined. Data were analyzed with the chi-square test, with P < 0.05 signifying statistical significance. The frequency of the C allele was significantly higher in the wet than in the dry AMD group (P = 0.044). In addition, the TC and CC genotypes were markedly more common in the former than in the control group (P = 0.013), and there was a significant difference in the distribution of the T and C alleles between wet AMD patients and control subjects (P < 0.05). Based on this, we conclude that liver-kidney yin-deficiency AMD is associated with the C allele and TC and CC genotypes of the CFH Y402H polymorphism. Among patients with this condition, CFH genotypes were normally distributed. The principal CFH genotypes that induce liver-kidney yin-deficiency AMD are the mutant homozygote CC and heterozygote TC forms. Moreover, C allele carriers are at higher risk of developing this disease.

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Association of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients

Abstract: This study suggests that the CFH Y402H polymorphism is associated with increased risk for both types of end-stage AMD in Turkish patients.

Cited by 10 publications

References 49 publications

CFH Y402H and VEGF Polymorphisms and Anti-VEGF Treatment Response in Exudative Age-Related Macular Degeneration

CFH Y402H and VEGF Polymorphisms and Anti-VEGF Treatment Response in Exudative Age-Related Macular Degeneration

Complement factor H and LOC387715/ARMS2/HTRA1 variant's frequencies and phenotypic associations in neovascular age-related macular degeneration, a pilot study

Clinical study of the correlation between complement factor H polymorphism and age-related macular degeneration

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