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Abstract：
OBJECTIVE: To evaluate the association between high myopia (HM) and single nucleotide polymorphisms (SNPs) in collagen, type XI, alpha 1 (COL11A1) and collagen, type XVIII, alpha 1 (COL18A1) genes in a Han Chinese population.
METHODS: A total of 869 patients with HM and 804 controls were recruited for this study. The genotyping of five SNPs in COL11A1 and COL18A1 was performed using the SNaPshot method. The genotyping data were analyzed using the χ2 test, and the linkage disequilibrium block structure was calculated and examined by Haploview software.
RESULTS: No statistically significant differences (p > 0.05) were identified between HM cases and controls after a Bonferroni correction for multiple tests in the allele frequencies of COL11A1 and COL18A1 SNPs. However, the G allele of rs2236475 showed a susceptible effect for HM (p = 0.016, corrected p = 0.08, odds ratio [OR] = 1.26). Moreover, the carriers of rs2236475GG genotype displayed an increased risk of HM compared with the rs2236475AA and rs2236475AG+AA genotypes (p = 0.008, OR = 1.79, confidence interval [95% CI] = 1.18-2.64, uncorrected; p = 0.012, OR = 1.74, 95% CI = 1.12-2.57, corrected, respectively).
CONCLUSIONS: Our results suggested that common polymorphisms in these two candidate genes were unlikely to play major roles in the genetic susceptibility to HM. Nevertheless, to avoid filtering real myopia genes, the role of COL11A1 and COL18A1 in the pathogenesis of myopia requires more refinement in both animal models and human genetic epidemiological studies.
METHODS: A total of 869 patients with HM and 804 controls were recruited for this study. The genotyping of five SNPs in COL11A1 and COL18A1 was performed using the SNaPshot method. The genotyping data were analyzed using the χ2 test, and the linkage disequilibrium block structure was calculated and examined by Haploview software.
RESULTS: No statistically significant differences (p > 0.05) were identified between HM cases and controls after a Bonferroni correction for multiple tests in the allele frequencies of COL11A1 and COL18A1 SNPs. However, the G allele of rs2236475 showed a susceptible effect for HM (p = 0.016, corrected p = 0.08, odds ratio [OR] = 1.26). Moreover, the carriers of rs2236475GG genotype displayed an increased risk of HM compared with the rs2236475AA and rs2236475AG+AA genotypes (p = 0.008, OR = 1.79, confidence interval [95% CI] = 1.18-2.64, uncorrected; p = 0.012, OR = 1.74, 95% CI = 1.12-2.57, corrected, respectively).
CONCLUSIONS: Our results suggested that common polymorphisms in these two candidate genes were unlikely to play major roles in the genetic susceptibility to HM. Nevertheless, to avoid filtering real myopia genes, the role of COL11A1 and COL18A1 in the pathogenesis of myopia requires more refinement in both animal models and human genetic epidemiological studies.
摘要：
目的：评估高度近视（HM）与胶原单核苷酸多态性（SNPs）的相关性，XI型,α1（COL11A1）和胶原蛋白，XVIII型，α1(COL18A1)基因在中国汉族人群中的应用。
方法：本研究共招募869例HM患者和804例对照。使用SNaPshot方法对COL11A1和COL18A1中的五个SNP进行基因分型。基因分型资料采用χ2检验,并通过Haploview软件计算和检查连锁不平衡块结构。
结果：对COL11A1和COL18A1SNP的等位基因频率进行Bonferroni校正后，在HM病例和对照组之间没有发现统计学上的显着差异（p>0.05）。然而,rs2236475的G等位基因显示出对HM的易感效应(p=0.016,校正后p=0.08,比值比[OR]=1.26).此外，与rs2236475AA和rs2236475AG+AA基因型相比,rs2236475GG基因型携带者患HM的风险增加(p=0.008,OR=1.79,置信区间[95%CI]=1.18-2.64,未校正;p=0.012,OR=1.74,95%CI=1.12-2.57,校正后,分别)。
结论：我们的结果表明，这两个候选基因的共同多态性不太可能在对HM的遗传易感性中起主要作用。然而，为了避免过滤真正的近视基因，COL11A1和COL18A1在近视发病机制中的作用需要在动物模型和人类遗传流行病学研究中进一步完善.
方法：本研究共招募869例HM患者和804例对照。使用SNaPshot方法对COL11A1和COL18A1中的五个SNP进行基因分型。基因分型资料采用χ2检验,并通过Haploview软件计算和检查连锁不平衡块结构。
结果：对COL11A1和COL18A1SNP的等位基因频率进行Bonferroni校正后，在HM病例和对照组之间没有发现统计学上的显着差异（p>0.05）。然而,rs2236475的G等位基因显示出对HM的易感效应(p=0.016,校正后p=0.08,比值比[OR]=1.26).此外，与rs2236475AA和rs2236475AG+AA基因型相比,rs2236475GG基因型携带者患HM的风险增加(p=0.008,OR=1.79,置信区间[95%CI]=1.18-2.64,未校正;p=0.012,OR=1.74,95%CI=1.12-2.57,校正后,分别)。
结论：我们的结果表明，这两个候选基因的共同多态性不太可能在对HM的遗传易感性中起主要作用。然而，为了避免过滤真正的近视基因，COL11A1和COL18A1在近视发病机制中的作用需要在动物模型和人类遗传流行病学研究中进一步完善.
