Identification of Japanese-specific SNP in exfoliation glaucoma patients with genome-wide association analysis of 1000K microarray

我们利用1000 K Affytron（Santa Clara，CA）微阵列从日本受试者[201例剥脱综合征（XFS）/剥脱性青光眼（XFG）患者和697例对照受试者]获得的898个样本进行了全基因组关联研究（GWAS）。结果，我们发现了34个全基因组显著的单核苷酸多态性（SNP），不仅分布在LOXL 1，而且还分布在该位点的其他两个基因中。这些结果通过分析由121名剥脱综合征/青光眼患者和263名对照组成的独立日本人群得到证实。我们结合GWAS和其复制分析的结果进行了Meta分析，最终获得了34个通过Bonferroni校正的SNP。这些结果表明，新发现的SNPs的组合可能有助于精确的XFG风险评估，以及通过XFS阐明XFG发病的分子机制。

We performed a genome-wide association study (GWAS) using 898 samples obtained from Japanese subjects [201 exfoliation syndrome (XFS)/exfoliation glaucoma (XFG) patients and 697 control subjects] by means of 1000K Affymetrix (Santa Clara, CA) microarray. As a result, we identified 34 genome-wide significant single-nucleotide polymorphisms (SNPs) distributed in not only LOXL1 but also in two other genes in the locus. These results were confirmed by analyzing an independent Japanese population consisted of 121 exfoliation syndrome/glaucoma patients and 263 controls. We performed a meta analysis by combining the results of the GWAS and its replication analysis, and we finally obtained 34 SNPs that passed the Bonferroni correction. These results suggested that the combination of newly discovered SNPs might be useful for precise XFG risk assessment, as well as for elucidating the molecular mechanism of XFG pathogenesis through XFS.