HTRA1 Gene Variant Linked to Age-Related Macular Degeneration in Japanese
Author Information
Author(s): Yoshida Tsunehiko, DeWan Andrew, Zhang Hong, Sakamoto Ryosuke, Okamoto Haru, Minami Masayoshi, Obazawa Minoru, Mizota Atsushi, Tanaka Minoru, Saito Yoshihiro, Takagi Ikue, Hoh Josephine, Iwata Takeshi
Primary Institution: National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center
Hypothesis
Does the HTRA1 promoter polymorphism affect the risk of developing wet age-related macular degeneration in a Japanese cohort?
Conclusion
The HTRA1 promoter polymorphism, rs11200638, significantly increases the risk of developing neovascular age-related macular degeneration in Japanese individuals.
Supporting Evidence
- The SNP rs11200638 was found to be in complete linkage disequilibrium with rs10490924.
- The odds ratio for those carrying two copies of the risk allele was 10.1.
- The study confirmed the association of the HTRA1 promoter SNP rs11200638 with wet AMD.
Takeaway
A specific change in a gene called HTRA1 makes some Japanese people much more likely to get a serious eye disease called wet AMD.
Methodology
Genomic DNA from 88 wet AMD cases and 97 age-matched controls was genotyped for two SNPs using temperature gradient capillary electrophoresis and direct sequencing.
Limitations
The study focused only on two SNPs and may not account for other genetic factors influencing AMD.
Participant Demographics
Mean age of cases was 74.8 years (70.5% male) and controls was 71.1 years (38.1% male).
Statistical Information
P-Value
<10-11
Confidence Interval
95% CI 4.36, 23.06
Statistical Significance
p<10-11
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