Related Experiment Video
Updated: Aug 8, 2026
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
No association between complement factor H gene polymorphism and exudative age-related macular degeneration in
Norimoto Gotoh1, Ryo Yamada, Hitomi Hiratani
1Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Insights
Age-related macular degeneration (ARMD) is a leading cause of blindness. The complement factor H gene (CFH) is not a significant genetic contributor to exudative ARMD in the Japanese population.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Age-related macular degeneration (ARMD) is a primary cause of vision loss in older adults globally.
- A specific polymorphism in the complement factor H gene (CFH), rs1061170 (Y402H), is a known genetic risk factor for exudative ARMD in Caucasian populations.
- Ethnic variations in ARMD phenotypes suggest underlying genetic differences.
Purpose of the Study:
- To investigate the role of the CFH gene, including specific polymorphisms and haplotypes, in the development of exudative ARMD in a Japanese population.
- To compare genetic findings in Japanese ARMD patients with those previously reported in Caucasian populations.
Main Methods:
- Extensive sequencing of the 22 exons of the CFH gene was performed.
- 146 Japanese patients with exudative ARMD and 105 healthy Japanese controls were recruited.
- 61 polymorphisms were identified, and 13 single nucleotide polymorphisms (SNPs) with a frequency greater than 0.05, including rs1061170, were analyzed for association with ARMD. Haplotype analysis was also conducted.
Main Results:
- The frequency of the rs1061170 (Y402H) C allele was significantly lower in Japanese controls (0.04) compared to Caucasians (0.45).
- No statistically significant association was found between exudative ARMD and rs1061170 or 12 other common SNPs.
- Haplotype analysis also failed to identify a significant genetic association between the CFH gene and exudative ARMD in the Japanese cohort, including the J1 haplotype associated with ARMD in Caucasians.
Conclusions:
- The CFH gene, particularly the rs1061170 polymorphism and common haplotypes, does not appear to be a primary hereditary risk factor for exudative ARMD in the Japanese population.
- The lack of CFH gene association in Japanese individuals may contribute to observed ethnic differences in ARMD phenotypes.
Abstract:
Age-related macular degeneration (ARMD) is the leading cause of blindness in the elderly population not only Western but also Asian industrial countries. In Caucasian, a polymorphism of the complement factor H gene (CFH), the C allele of rs1061170 (Y402H), was established as the first strong genetic factor for excursively exudative type of ARMD. In this study, we performed an extensive sequencing of the 22 exons in the CFH gene by recruiting 146 exudative ARMD patients and 105 normal controls of Japanese origin and identified 61 polymorphisms. We found that the frequency of the C allele of rs1061170 (Y402H) is much lower (0.04) in Japanese controls than in Caucasians (0.45). No case disease susceptibility to exudative ARMD was noted for rs1061170 (Y402H) (chi (2) = 3.19, P (corr) = 0.423), or other 12 single nucleotide polymorphisms (SNPs) whose frequency is greater than 0.05. When haplotypes were inferred for 13 SNPs (these 12 SNPs with a frequency greater than 0.05 and rs1061170), three haplotypes whose pattern was similar to those in Caucasians were identified but with substantial difference in frequency. Again we failed to identify genetic association between Japanese exudative ARMD and any of the haplotypes including the J1 haplotype which was shown to be susceptible to ARMD in Caucasians (chi (2 )=( )3.92, P (corr) = 0.157). CFH does not appear to be a primary hereditary contributor to ARMD in Japanese. The absence of CFH contribution to ARMD in Japanese may correlate with the findings in ethnic differences of ARMD phenotypes.
Related Concept Videos
02:32Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
01:11Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...