Evaluation of genome-wide susceptibility loci for high myopia in a Han Chinese population

<p><i>Purpose</i>: High myopia (HM) is a common cause of visual impairment worldwide. Previous genome-wide association studies have reported that seven single nucleotide polymorphisms (SNPs), including rs1254319, rs3138144, rs12205363, rs17648524, rs7829127, rs1656404, and rs7084402, are associated with HM in Caucasians. The aim of this study was to investigate the association of these SNPs in Han Chinese.</p> <p><i>Methods</i>: SNPs were genotyped by SNaPshot method in a Chinese cohort composed of 830 HM patients and 1140 controls.</p> <p><i>Results</i>: Rs17648524 (C/G) and rs7084402 (A/G) were significantly associated with HM (<i>p</i> = 3.0 × 10⁻³, OR = 0.43; <i>p</i> = 3.7 × 10⁻², OR = 1.25, respectively). The association of rs17648524 was also observed under the heterozygous model (CG vs. GG, <i>p</i> = 7.0 × 10⁻³, OR = 0.43) and the dominant model (CC + CG vs. GG, <i>p</i> = 4.0 × 10⁻³, OR = 0.42). The association of rs7084402 was found under the homozygous model (GG vs. AA, <i>p</i> = 4.0 × 10⁻², OR = 1.56) and the dominant model (GG+ AG vs. AA, <i>p</i> = 3.8 × 10⁻², OR = 1.41). Another SNP, rs7829127 (A/G), was found to be significantly associated with HM under the heterozygous model (AG vs. AA, <i>p</i> = 4.6 × 10⁻², OR = 0.67). Furthermore, the associations of rs17648524 and rs7084402 with HM were gender-specific, with significance observed only in females but not in males. As for the other four SNPs, no associations were detected under these genetic models.</p> <p><i>Conclusions</i>: Our findings suggested rs17648524 (intronic <i>RBFOX1</i> gene) and rs7084402 (7.5kb 5′ of the <i>BICC1</i> gene) showed gender-specific associations with high myopia in the Han Chinese.</p

Association of <i>catalase</i> polymorphisms with primary open-angle glaucoma in a Chinese population

<p><b>Purpose:</b> Many genes have been associated with primary open-angle glaucoma (POAG). This study was conducted to investigate whether <i>catalase</i> (<i>CAT</i>) polymorphisms play a significant role in POAG in a Chinese population.</p> <p><b>Methods:</b> A cohort of 416 unrelated POAG patients and 997 unrelated control subjects was included in this case–control association study. <i>CAT</i> functional single-nucleotide polymorphisms (SNPs), including rs1001179, rs7943316, and rs769217, were genotyped by SNaPshot method. The genotype and allele frequencies were evaluated using the <i>χ</i>² tests. The linkage disequilibrium (LD) and haplotype block structure association were examined using the program Haploview (Broad Institute, Cambridge, MA).</p> <p><b>Results:</b> There was a statistically significant difference for <i>CAT</i> functional SNP rs769217 between POAG cases and controls in the allelic model (<i>p</i> = 0.004, OR = 1.27, 95% CI 1.08–1.49). At this SNP, the allele frequency of the C allele in POAG cases was 0.587, which was higher than that in controls (0.528). However, no association was found for rs1001179 and rs7943316 with POAG. Pairwise LD analysis showed high LD between rs769217 and rs7943316 (<i>D</i>’ = 0.857, <i>r²</i> = 0.252, confidence bounds 0.71–0.93). After the association analysis for haplotype block structure generated from rs769217 with rs7943316, the data showed no significant association between the cases and controls.</p> <p><b>Conclusions:</b> This study showed that <i>CAT</i> functional SNP rs769217 was significantly associated with POAG, implying that the <i>CAT</i> gene variants may play a role in the pathogenesis of POAG in the Chinese population.</p