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Published on: July 14, 2016
Clinical study of the correlation between complement factor H polymorphism and age-related macular degeneration
H T Dong1, J X Zhang1, Q M Li2
1Department of Ophthalmology, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Insights
This study found that the C allele and specific genotypes (TC, CC) of the complement factor H (CFH) Y402H polymorphism are linked to liver-kidney yin-deficiency age-related macular degeneration (AMD). C allele carriers have an increased risk of developing this AMD subtype.
Area of Science:
- Ophthalmology
- Genetics
- Internal Medicine
Background:
- Age-related macular degeneration (AMD) is a leading cause of vision loss.
- Liver-kidney yin-deficiency is a specific subtype of AMD in traditional Chinese medicine.
- Complement factor H (CFH) plays a role in regulating the complement system, implicated in AMD pathogenesis.
Purpose of the Study:
- To investigate the association between liver-kidney yin-deficiency AMD and CFH gene polymorphism.
- To determine if the C allele of the CFH T1277C (Y402H) variant is a risk factor for this AMD subtype.
Main Methods:
- A case-control study involving 60 patients with liver-kidney yin-deficiency AMD and 60 controls.
- DNA extraction from peripheral blood, followed by polymerase chain reaction amplification and sequencing.
- Analysis of CFH gene polymorphism using the chi-square test.
Main Results:
- The frequency of the C allele was significantly higher in wet AMD compared to dry AMD (P=0.044).
- TC and CC genotypes of CFH Y402H were more common in wet AMD patients than controls (P=0.013).
- A significant difference in T and C allele distribution was observed between wet AMD patients and controls (P<0.05).
Conclusions:
- Liver-kidney yin-deficiency AMD is associated with the C allele and TC/CC genotypes of the CFH Y402H polymorphism.
- The CC and TC genotypes are principal inducers of this AMD subtype.
- Carriers of the C allele have a higher risk of developing liver-kidney yin-deficiency AMD.
Abstract:
This study aimed to investigate the correlation between age-related macular degeneration (AMD) of the liver-kidney yin-deficiency 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.
