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Purpose: To investigate whether the major genetic and environmental risk factors of age-related macular degeneration (AMD), namely CFH Y402H and LOC387715 A69S and cigarette smoking, were also associated with polypoidal choroidal vasculopathy (PCV), and whether the associations of CFH Y402H and LOC387715 A69S with PCV were modified by smoking. Methods: Three hundred and seventy-five Japanese patients with PCV and 847 Japanese who served as population-based controls >/=55-years-of-age were studied. CFH Y402H (rs1061170) and LOC387715 A69S (rs10490924) were genotyped using the Taqman SNP assay. An unconditional logistic regression model was used to analyze the association between age, gender, smoking status, CFH Y402H, LOC387715 A69S, and PCV. The synergy index (SI) was measured to assess gene-smoking and gene-gene interaction as departure from additivity. Results: CFH Y402H, LOC387715 A69S, and cigarette smoking status were all significantly associated with PCV; for CFH Y402H, the adjusted OR for the number of copies of the allele = 1.63 (95% confidence interval [CI]: 1.12-2.36, P < 0.05); for LOC387715 A69S, the adjusted OR = 2.26 (95%
1.83-2.78, P < 0.0001); and for smoking status (ever vs. never smoked), the adjusted OR = 1.45 (95%
1.00-2.10, P < 0.05). The joint effect of CFH Y402H and smoking was significantly greater than the additive scale with a SI of 2.41 (95% CI, 1.14-5.10). Conclusion: CFH Y402H and LOC387715 A69S are both significantly associated with PCV. Cigarette smoking is an environmental risk factor for PCV. Our findings suggest possible interactions between CFH 402H and cigarette smoking on PCV.
Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
This article was published in the following journal.
Name: Investigative ophthalmology & visual science
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