Evaluation of BLID and LOC399959 as candidate genes for high myopia in the Chinese Han population

[摘要] Purpose: BH3-like motif containing, celldeath inducer (BLID) and LOC399959 are two genesassociated with the single nucleotide polymorphism (SNP) rs577948,which is a susceptibility locus for high myopia in Japanese subjects.The purpose of this study was to determine if BLID and LOC399959are associated with high myopia in Chinese Han subjects. Methods: High myopia subjects (n=476)had a spherical refractive error of less than −6.00 D in at least oneeye and/or an axial length greater than 26 mm. Genomic DNA wasextracted and genotyped from peripheral blood leukocytes of high myopesand controls (n=275). Using a case-control association study ofcandidate regions, linkage disequilibrium blocks for 19 tag SNPs(tSNPs), including rs577948, harbored within and surrounding the BLIDand LOC399959 genes were analyzed on a MassArray platform usingiPlex chemistry. Each of the tSNPs had an r2>0.8 andminor allele frequency >10% in the Chinese Han population. Haplotypeassociation analysis was performed on Haploview 4.1 using Chi-square (χ2)tests. Results: None of the 19 tSNPs werestatistically associated with high myopia. Conclusions: While rs577948 may beassociated with high myopia in Japanese subjects, it and the othertSNPs near the BLID and LOC399959 genes are notsusceptibility loci for high myopia in the Chinese Han population.Thus, associations of SNPs with high myopia as determined byGenome-Wide Association Study (GWAS) may be restricted to certainethnic or genetically distinct populations. Without systematicreplication in other populations, the results of GWAS associationsshould be interpreted with great caution.

[学科分类] 生物化学/生物物理