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B. K. Cornes, E. Tai, W. Tay, X. SIM, M. Seielstad, J. Wang, P. Mitchell, E. L. Lamoureux, S. Saw, T. Y. Wong; Genome-Wide Association Study (GWAS) of Age-Related Macular Degeneration (AMD) in Asian Malays: The Singapore Malay Eye Study (SiMES). Invest. Ophthalmol. Vis. Sci. 2010;51(13):1272.
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© ARVO (1962-2015); The Authors (2016-present)
Aim: To understand the role of known common genetic variants associated with AMD in an urban Malay population.
We conducted a population-based case-control GWAS of AMD in Singaporean Malay participants aged between 40-80 years from a well characterised population-based study: the Singapore Malay Eye Study (SiMES). Early and late AMD signs were graded from retinal photographs using the Wisconsin grading system.
Of the 3280 participants who were examined (78.7%), 3265 had photographs of sufficient quality for grading of AMD signs; of these, 3072 also had DNA available and were genotyped using the Illumina Human610-Quad BeadChips. 530 samples were excluded due to high missingness, excess heterozygosity, cryptic relatedness, discordant ethnicity or gender discrepancy, leaving a total of 140 AMD cases (123 early, 17 late) and 2390 controls. No association reaching genome-wide significance (p<5x10-8) was found. However, several SNPs showed suggestive associations (p-values between 5x10-8 and 5x10-4). Of the known SNPs associated with AMD, rs680638 on chromosome 1 (near HMCN1) (p=3.67x10-2; additive OR: 0.75 [95%CI: 0.58-0.98] for risk allele T) and rs10490924 on chromosome 10 (upstream of genes LOC387715 and HTRA1) (p=1.48x10-2; additive OR: 1.36 [95%CI: 1.06-1.74] for risk allele T) were associated with AMD in this Malay sample. Direction of association was different for rs680638 but the same for rs10490924 to prior studies. rs547154, on chromosome 6 (near C2), showed a borderline association (p=8.08x10-2; additive OR: 0.69 [95%CI: 0.45-1.05] for risk allele T) in the same direction to previous findings.
In this population, we replicated associations of some previously implicated AMD SNPs, particularly those identified in Chinese and Japanese. Our findings suggest that some genetic associations to AMD are ethnicity-specific. Alternatively, failure to find significant associations may be due to insufficient power, particularly with the low number of AMD cases. Observed regions of suggestive associations are of interest for future replication studies.
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