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Y. Tanabe, R. Kawasaki, H. Yamashita, M. Daimon, T. Kato, S. Kawata, T. Kayama, J. J. Wang, T. Y. Wong, P. Mitchell; Association Between Angiotensin I Converting Enzyme Gene Insertion/Deletion Polymorphisms and Early Age-related Maculopathy in a Japanese Population: The Funagata Study. Invest. Ophthalmol. Vis. Sci. 2007;48(13):2110.
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To assess the association between Angiotensin I Converting Enzyme (ACE) Gene Insertion (I) or Deletion (D) polymorphisms and early stage age-related maculopathy (early ARM) in a population-based Japanese sample.
The Funagata study is a cross-sectional population-based study in adult Japanese aged 35 years or older (examined during 2000-02). Grading of early ARM lesions was performed at the Centre for Vision Research (Sydney) using the modified Wisconsin ARM Grading System. Early ARM was defined as presence of either large indistinct soft or reticular drusen, or both large distinct soft drusen and retinal pigmentary abnormalities within the macular area in the absence of late ARM. ACE polymorphisms (D/D, I/D or I/I) were determined using PCR.
Of the 1,667 participants, 687 (41.2 %) had data available on both early ARM status and the ACE genotypes. Genotype D/D was present in 9.6%, I/D in 46.4% and I/I in 44.0% of the sample; this distribution was in Hardy-Weinberg equilibrium. Early ARM cases were more likely than people without ARM, to have the I/I genotype (50.3% vs 42.0%) and less likely to have the D/D (6.7% vs 10.5%) and I/D genotypes (42.9% vs 47.5%). The I allele frequency was also higher in early ARM cases than controls (D:I = 27.8%:72.2% vs 34.2%:65.7%, p=0.032). Apart from older age in the cases, there were no statistical differences between cases and controls in gender, systolic or diastolic blood pressure, or the proportions with diabetes or smokers. After adjusting for age, gender, smoking, and diabetes, higher systolic blood pressure (OR 1.2, 95% CI 1.02-1.35 per 10mmHg increase) and ACE I/I genotype (OR 2.2, 95% CI 1.02-4.64) were significantly associated with early ARM.
In this Japanese adult population, we found that ACE gene I/D polymorphisms could represent another susceptibility marker for ARM.
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