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S. J. Teper, A. Nowinska, J. Pilat, E. Wylegala; R38X and A69S ARMS2 and Y402H CFH Gene Variants Influence on Risk of Neovascular Age-Related Macular Degeneration (AMD) in Polish Population. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1259. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
To find out if there is an association between R38X and A69S ARMS2 and Y402H complement factor H polymorphisms and the risk of AMD in Polish population. To assess putative effect of these variants on baseline characteristics of patients with neovascular AMD.
130 patients were included to the study. Treated group - 90 persons (mean age: 71,62 ± 8,4), comparative group - 40 patients (mean age: 78,32 ± 9,5).Both group of patients had to sign informed consent before inclusion. The study was performed according to the tenets of the Declaration of Helsinki.DNA was isolated from dry blood samples collected on FTA cards. DNA was isolated by using the lysis and neutralization solutions. Polymerase chain reaction was used for amplification of the ARMS2 and CFH genes. PCR product was purified and submitted for DNA sequencing. Genomic heterozygous DNA (in cases of A69S and R38X coexistence in gene sequencing) was PCR amplified and the obtained PCR product was directly ligated into the pGEM-T Easy Vector. The reaction products were transformed into the DH5a competent cells with further sequence analysis of cloned DNA.Statistics: Odds ratio was calculated to estimate the risk. Possible baseline differences between genotype groups including best corrected visual acuity, central subfield retinal thickness (Zeiss Stratus III), type of lesion, area of lesion were tested with Kruskal-Wallis test. P values of <0.05 were considered significant.
Genetic testing results in treatment group: 47 patients were heterozygous and 28 homozygous for Y402H; 33 were heterozygous and 26 were homozygous for A69S. In comparative group homozygous/heterozygous respectively: 22/3 for Y402H, and 14/2 for A69S. Besides, R38X polymorphism was found in ARMS2 - in 16 patients in treated group and 13 in comparative group. In 7 patients it coexisted with A69S SNP on another allele. Odds ratios:Y402H - 5.57 (1.58-19.6), p = 0.002A69S - 7.72 (1.73-34.36), p = 0.001R38X - 0.45 (0.19-1.05) p = 0.053Baseline differences in the treated group subdived by genotypes were not found what can be related to the number of subjects.
As far as we know this is the first report of genetic association between major AMD risk factors and neovascular AMD in Polish population. The role of A69S ARMS2 and Y402H CFH gene variants were confirmed. R38X variant of ARMS2 seems to be protective. Influence of gene variants on baseline characteristics of neovascular AMD patients was not seen.
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