Department of Ophthalmology, Uijeongbu St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Medicine (Baltimore). 2022 Dec 30;101(52):e31542. doi: 10.1097/MD.0000000000031542.
Previous studies have reported the association of the SIX1/SIX6 locus with open-angle glaucoma in various ethnic populations. However, the relevance of the SIX1/SIX6 locus to pseudoexfoliation syndrome (XFS) appears uncertain at present. Thus, we investigated the relationship between polymorphisms in the SIX1/SIX6 locus and XFS in a Korean XFS cohort. A total of 246 participants comprising 167 unrelated Korean patients with XFS and 79 ethnically matched control subjects were recruited. Four polymorphisms of the SIX1/SIX6 locus (rs33912345, rs12436579, rs2179970, and rs10483727) were genotyped using a TaqMan® allelic discrimination assay. Genotypic and allelic associations were analyzed using logistic regression. The minor allele frequency (MAF) of rs33912345 was found to be 0.287 and 0.247 in the XFS cases and controls, respectively, and the MAF of rs12436579 was found to be 0.383 and 0.361 in the XFS cases and control subjects, respectively. The MAF of rs2179970 was found to be 0.090 and 0.095 in the XFS cases and control subjects, respectively, and the MAF of rs10483727 was found to be 0.293 and 0.253 in the XFS cases and control subjects, respectively. Genetic association analysis of 4 SIX1/SIX6 locus single nucleotide polymorphisms (SNPs) revealed no significant difference in genotype distribution between the XFS cases and control subjects in the allelic, dominant, or recessive models (all, P > .05). The current study suggested that SIX1/SIX6 locus polymorphisms (rs33912345, rs12436579, rs2179970, and rs10483727) may not be associated with a genetic susceptibility to XFS in a Korean cohort.
先前的研究报告称，SIX1/SIX6 基因座与各种族裔人群的开角型青光眼有关。然而，目前 SIX1/SIX6 基因座与假性剥脱综合征（XFS）的相关性尚不确定。因此，我们在韩国 XFS 队列中研究了 SIX1/SIX6 基因座多态性与 XFS 之间的关系。共招募了 246 名参与者，包括 167 名无关的韩国 XFS 患者和 79 名种族匹配的对照。使用 TaqMan®等位基因鉴别测定法对 SIX1/SIX6 基因座的 4 个多态性（rs33912345、rs12436579、rs2179970 和 rs10483727）进行了基因分型。使用逻辑回归分析了基因型和等位基因的关联。XFS 病例和对照组中 rs33912345 的次要等位基因频率（MAF）分别为 0.287 和 0.247，XFS 病例和对照组中 rs12436579 的 MAF 分别为 0.383 和 0.361。XFS 病例和对照组中 rs2179970 的 MAF 分别为 0.090 和 0.095，XFS 病例和对照组中 rs10483727 的 MAF 分别为 0.293 和 0.253。对 4 个 SIX1/SIX6 基因座单核苷酸多态性（SNP）的遗传关联分析显示，XFS 病例和对照组在等位基因、显性或隐性模型中的基因型分布无显著差异（均 P>0.05）。本研究表明，SIX1/SIX6 基因座多态性（rs33912345、rs12436579、rs2179970 和 rs10483727）可能与韩国人群 XFS 的遗传易感性无关。
