Genetic Variants Linked to Age-Related Macular Degeneration in Israeli Populations
Author Information
Author(s): Itay Chowers, Meir Tal, Michal Lederman, Nitza Goldenberg-Cohen, Yoram Cohen, Eyal Banin, Edward Averbukh, Itzhak Hemo, Ayala Pollack, Ruth Axer-Siegel, Orly Weinstein, Josephine Hoh, Donald J. Zack, Tural Galbinur
Primary Institution: Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Hypothesis
Are SNPs in LOC387715/ARMS2 and HTRA1 associated with age-related macular degeneration and its response to therapy in Israeli populations?
Conclusion
The rs10490924 SNP in LOC387715/ARMS2 and the rs11200638 SNP in HTRA1 are strongly associated with neovascular age-related macular degeneration in this Israeli population.
Supporting Evidence
- Both SNPs were in almost complete linkage disequilibrium.
- Homozygotes for the T allele of rs10490924 had an odds ratio of 8.6 for having AMD.
- Homozygotes for the A allele of rs11200638 had an odds ratio of 10.7 for having AMD.
- Genotyping was performed on 255 NVAMD patients and 119 unaffected controls.
- HTRA1 mRNA levels were not associated with rs11200638 genotypes.
- Significant associations were found among Ashkenazi Jews, Sephardic Jews, and Arabs.
- Smoking was associated with an increased risk for AMD.
- HTRA1 expression levels were similar in different genotypes.
Takeaway
This study found that certain genetic changes are linked to a common eye disease in people from Israel, but they don't seem to affect how well patients respond to treatment.
Methodology
Genotyping for specific SNPs was performed on 255 NVAMD patients and 119 unaffected controls, with correlations made to phenotype and therapy response.
Limitations
The study did not find significant associations between SNPs and various clinical characteristics or response to therapy.
Participant Demographics
Participants included Ashkenazi Jews, Sephardic Jews, and Arabs, with a balanced gender ratio.
Statistical Information
P-Value
p<0.00001
Confidence Interval
95% CI of 3.5–20.8 for rs10490924 and 95% CI of 3.2–35.7 for rs11200638
Statistical Significance
p<0.00001
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