title: Genome-wide analysis of single nucleotide polymorphisms in patients with atrophic age-related macular degeneration in oldest old Han Chinese.
abstract: The aim of this study was to identify disease-associated loci in oldest old Han Chinese with atrophic age-related macular degeneration (AMD). This genome-wide association study (GWAS) only included oldest old (≥95 years old) subjects in Rugao County, China. Thirty atrophic AMD patients and 47 age-matched non-AMD controls were enrolled. The study subjects underwent a complete ophthalmic examination. Genomic DNA was extracted from peripheral blood samples. Single nucleotide polymorphisms (SNPs) were scanned by Genome-Wide Human Mapping SNP 6.0 Arrays and GeneChip Scanner 3000 7G. The results were read and analyzed by the Affymetrix Genotyping Console software. We filtered out the SNPs with a no-call rate ≥10%, MAF P < 0.05, and HWE P < 0.001. The remaining 561,277 SNPs were included in the association analysis. We found that the following 2 SNPs had the highest association with atrophic AMD: rs7624556 (located on 3q24) and rs13119914 (located on 4q34.3). In conclusion, we identified two atrophic AMD-associated SNPs (rs7624556 and rs13119914) in an oldest old Han Chinese population. This finding may lead to new strategies for screening of atrophic AMD for Han Chinese.
authors.affiliation: Department of Ophthalmology, The Affiliated Hospital of Nantong University, Nantong, Jiangsu Province, China.
authors.forename: T Q
authors.initials: TQ
authors.lastname: Zhou
authors.affiliation: Department of Ophthalmology, The Affiliated Hospital of Nantong University, Nantong, Jiangsu Province, China.
authors.forename: H J
authors.initials: HJ
authors.lastname: Guan
authors.affiliation: Department of Ophthalmology, The Affiliated Hospital of Nantong University, Nantong, Jiangsu Province, China.
authors.forename: J Y
authors.initials: JY
authors.lastname: Hu
mesh_terms: D016022:Case-Control Studies; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D008297:Male; D020641:Polymorphism, Single Nucleotide