Ningxia Clinical Research Center of Blinding Eye Disease, People Hospital of Ningxia Hui Autonomous Region (People's Hospital of Autonomous Region Affiliated to Ningxia Medical University), No 936, Huanghe East Road, Jinfeng District, Yinchuan, 750001, Ningxia, China.
The Affiliated Xuzhou Municipal Hospital of Xuzhou Medical University, Xuzhou First People's Hospital, No 269, University Road, Tongshan District, Xuzhou, 221116, Jiangsu, China.
BMC Ophthalmol. 2022 Mar 19;22(1):129. doi: 10.1186/s12886-022-02359-1.
Keratoconus (KC) is a complex, non-inflammatory corneal degenerative disease. Although numerous studies have analyzed the correlation of SNP rs1324183, which located in MPDZ-NF1B gene, and KC in different populations, only few findings were repeated. In this study, to evaluate the association between rs1324183 and KC in a new independent Chinese population, we performed a replication study of the significantly associated rs1324183.
In total of 114 unrelated KC patients and 88 unrelated controls were recruited from Ningxia, China. We detected the genotypes and alleles of rs1324183 using PCR technology and Sanger sequencing and also analyzed the association between this locus and KC, its clinical parameters by statistical methods.
The frequency of genotype AA (11, 9.6%) and genotypes containing allele A (47, 41.2%) of rs1324183 in KC were both higher than those of the control group. And genotype AA of rs1324183 conferred a higher risk of KC (OR > 1). Moreover, corneal parameter Belin/Ambrósio enhanced ectasia display final D value (BAD-D) had significant correlation (p = 0.002) with AA genotype of rs1324183 in KC.
Our replication study indicates that the results of rs1324183 associated with KC in our population is robust and further better illustrates the significance of BAD-D as a diagnostic indicator for KC. rs1324183 should be considered as the first genetic mark of KC risk in its future diagnosis.
圆锥角膜（KC）是一种复杂的、非炎症性的角膜退行性疾病。尽管有许多研究分析了位于 MPDZ-NF1B 基因中的 SNP rs1324183 与不同人群中的 KC 的相关性，但仅有少数发现得到了重复。在这项研究中，为了评估 rs1324183 与中国新的独立人群中 KC 的关联性，我们对具有显著相关性的 rs1324183 进行了重复研究。
共招募了来自中国宁夏的 114 名无关 KC 患者和 88 名无关对照者。我们使用 PCR 技术和 Sanger 测序检测了 rs1324183 的基因型和等位基因，并通过统计方法分析了该位点与 KC 及其临床参数的关联。
rs1324183 的基因型 AA（11，9.6%）和含等位基因 A 的基因型（47，41.2%）在 KC 中的频率均高于对照组。并且 rs1324183 的基因型 AA 增加了 KC 的发病风险（OR>1）。此外，角膜参数 Belin/Ambrósio 增强扩张显示最终 D 值（BAD-D）与 KC 中 rs1324183 的 AA 基因型显著相关（p=0.002）。
我们的重复研究表明，rs1324183 与我们人群中 KC 相关的结果是稳健的，进一步更好地说明了 BAD-D 作为 KC 诊断指标的重要性。rs1324183 应该被视为其未来诊断中 KC 风险的第一个遗传标记。
