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Polymorphisms in CFH, HTRA1 and CX3CR1 confer risk to exudative age-related macular degeneration in Han Chinese
1Department of Ophthalmology, Affiliated Hospital of Nantong University, 20 Xisi Road, Nantong 226001, China.
Insights
This study investigated genetic risk factors for exudative age-related macular degeneration (AMD) in Han Chinese. Certain single nucleotide polymorphisms (SNPs) in CFH, HTRA1, and CX3CR1 genes were associated with AMD risk, independent of smoking status.
Area of Science:
- Genetics
- Ophthalmology
- Human Population Studies
Background:
- Age-related macular degeneration (AMD) is a leading cause of vision loss.
- Specific single nucleotide polymorphisms (SNPs) in Complement Factor H (CFH), HTRA1, and CX3CR1 genes are linked to AMD in Caucasians.
Purpose of the Study:
- To investigate the association and magnitude of AMD susceptibility SNPs in the Han Chinese population.
- To determine the role of CFH, HTRA1, and CX3CR1 SNPs in exudative AMD among Han Chinese.
Main Methods:
- Case-control study involving 109 exudative AMD cases and 150 controls from Nantong University Hospital.
- Genotyping of six SNPs within the CFH, HTRA1, and CX3CR1 genes.
- Comparison of allele/genotype frequencies and assessment of SNP-SNP and SNP-smoking interactions.
Main Results:
- The CFH rs800292 SNP was associated with a reduced risk of exudative AMD.
- CX3CR1 (V249I, T280M) and HTRA1 promoter SNPs showed significant associations with exudative AMD risk.
- No significant interactions were found between the studied SNPs or with smoking status.
Conclusions:
- Replicated associations for CFH and HTRA1 SNPs in Han Chinese exudative AMD.
- Reported for the first time the association of CX3CR1 SNPs with exudative AMD in this population.
- The studied SNPs appear to independently influence AMD risk without gene-gene or gene-smoking interactions.
Background/Aims:
Single nucleotide polymorphisms (SNPs) in Complement Factor H (CFH), HTRA1 and CX3CR1 are associated with age-related macular degeneration (AMD) in Caucasian population. We aimed to determine whether, and of what magnitude, these AMD susceptibility SNPs are associated with exudative AMD in Han Chinese.
Methods:
Exudative AMD cases and age-matched controls were recruited from Nantong University Hospital (109 cases, 150 controls). Six SNPs in CFH, HTRA1 and CX3CR1 were genotyped. The allele/genotype frequencies were compared between the case and the control. Interactions of SNP-SNP or SNP-smoking status were assessed.
Results:
The CFH rs800292 showed significant associations with a reduced risk for exudative AMD. CX3CR1 V249I and T280M and the HTRA1 promoter SNP were significantly associated with the risk of exudative AMD. The two SNPs in CX3CR1 were in complete linkage disequilibrium. None of the AMD-susceptibility SNPs had interactions with each other or with smoking status to confer an altered AMD risk.
Conclusions:
We have replicated the associations of the CFH and HTRA1 SNPs and report for the first time the association of CX3CR1 with exudative AMD in Han Chinese. There was no interaction among the SNPs from different genes, indicating that they might alter the AMD risk independently.
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