Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China.
Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China.
Exp Eye Res. 2023 Dec;237:109694. doi: 10.1016/j.exer.2023.109694. Epub 2023 Oct 26.
The aim of this study was to explore the association between SNTB1 and ZFHX1B polymorphisms and high myopia (HM) in a Northern Han Chinese population. This case-control study included 457 HM and 860 healthy subjects from the Northern Han Chinese population. Four single nucleotide polymorphisms (SNPs) (rs7839488, rs4395927, rs4455882, and rs6469937) in SNTB1 and one SNP in ZFHX1B (rs13382811)were selected based on two previous genome-wide association study (GWAS) studies. The allele and genotype distributions of SNPs in SNTB1 and ZFHX1B were compared between the two groups using the chi-square test. The allele results were adjusted for age and sex using Plink software (Plink 1.9). Pairwise linkage disequilibrium (LD) and haplotype analyses were performed using SHEsis software. For HM subjects, the mean age was 44.80 ± 17.11 years, and for the control subjects, it was 44.41 ± 14.26 years. For rs7839488 of the SNTB1 gene, the A allele is a risk allele and the G allele is a wild allele. The A allele had no statistical significance with the HM cases and controls (OR = 0.90, 95% CI = 0.74-1.09, P = 0.273, Pc = NS). There was a LD in SNTB1 (rs7839488, rs4395927, rs4455882, and rs6469937). The G-C-A-G haplotype frequency was higher in HM subjects than that of the controls (OR = 1.31, 95% CI = 1.07-1.60, P = 0.008). Meanwhile, the A-T-G-A haplotype frequency was slightly lower in the HM group (OR = 0.81, 95% CI = 0.66-0.99, P = 0.048). In the ZFHX1B gene, the frequency of the minor T allele of rs13382811 was significant higher in the HM group than in the control group (OR = 1.34, 95% CI = 1.11-1.61, P = 0.001, Pc = 0.009). Furthermore, compared to the CC genotype, there were significant differences in the CT genotype (OR = 1.57, 95% CI = 1.23-2.00, P < 0.001, Pc = 0.002). In conclusion, G-C-A-G is a risk haplotype from the SNTB1 gene in high myopia patients. The minor T-allele of ZFHX1B rs13382811 is a risk factor for high myopia. SNTB1 and ZFHX1B are both risk genes associated with increased susceptibility to high myopia in the Northern Han Chinese population.
本研究旨在探讨 SNTB1 和 ZFHX1B 多态性与北方汉族人群高度近视（HM）的相关性。该病例对照研究纳入了来自北方汉族人群的 457 例 HM 患者和 860 例健康对照。根据两项先前的全基因组关联研究（GWAS），选择了 SNTB1 中的四个单核苷酸多态性（SNP）（rs7839488、rs4395927、rs4455882 和 rs6469937）和 ZFHX1B 中的一个 SNP（rs13382811）。使用卡方检验比较两组 SNP 的等位基因和基因型分布。使用 Plink 软件（Plink 1.9）对 SNP 的等位基因结果进行年龄和性别调整。使用 SHEsis 软件进行了连锁不平衡（LD）和单体型分析。对于 HM 患者，平均年龄为 44.80±17.11 岁，对于对照组，平均年龄为 44.41±14.26 岁。对于 SNTB1 基因的 rs7839488，A 等位基因是风险等位基因，G 等位基因是野生等位基因。A 等位基因与 HM 病例和对照组均无统计学意义（OR=0.90，95%CI=0.74-1.09，P=0.273，Pc=NS）。SNTB1 存在 LD（rs7839488、rs4395927、rs4455882 和 rs6469937）。与对照组相比，HM 患者中 G-C-A-G 单体型频率更高（OR=1.31，95%CI=1.07-1.60，P=0.008）。同时，HM 组中 A-T-G-A 单体型频率略低（OR=0.81，95%CI=0.66-0.99，P=0.048）。在 ZFHX1B 基因中，rs13382811 的次要 T 等位基因在 HM 组中的频率明显高于对照组（OR=1.34，95%CI=1.11-1.61，P=0.001，Pc=0.009）。此外，与 CC 基因型相比，CT 基因型有显著差异（OR=1.57，95%CI=1.23-2.00，P<0.001，Pc=0.002）。综上所述，G-C-A-G 是 HM 患者 SNTB1 基因的风险单体型。ZFHX1B rs13382811 的次要 T 等位基因是 HM 的危险因素。SNTB1 和 ZFHX1B 均为与北方汉族人群 HM 易感性增加相关的风险基因。
