Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China.
Invest Ophthalmol Vis Sci. 2023 Jun 1;64(7):6. doi: 10.1167/iovs.64.7.6.
To identify gene variants associated with anisometropia development in children.
This is a population-based, cross-sectional, and longitudinal genetic association study involving 1057 children aged 6 to 10 years with both baseline and 3-year follow-up data. Six single nucleotide polymorphisms (SNPs), ZC3H11B rs4373767, ZFHX1B rs13382811, KCNQ5 rs7744813, SNTB1 rs7839488, PAX6 rs644242, and GJD2 rs524952 were analyzed in all children. Anisometropia was defined by an interocular difference in SE of ≥1 diopter (D) (Aniso-SE) and an interocular difference in axial length (AL) of ≥0.3 mm (Aniso-AL), respectively. Genetic associations of individual SNPs and joint SNP effects were analyzed.
ZFHX1B rs13382811 was associated nominally with Aniso-AL (odds ratio [OR], 1.66; P = 0.003) at baseline. At 3 years, rs13382811 was significantly associated with Aniso-AL (OR, 1.49; P = 0.001) and became nominally associated with Aniso-SE (OR, 1.40; P = 0.01). In addition, PAX6 rs644242 was significantly associated with Aniso-AL at 3 years (OR, 1.45; P = 0.002). At the 3-year follow-up, PAX6 rs644242 was associated significantly with Aniso-AL development (OR, 1.61; P = 0.0003) and nominally with Aniso-SE development (P = 0.03) in children who were not anisometropic at baseline, whereas ZFHX1B rs13382811 was associated nominally with Aniso-AL development (P = 0.02). An additive SNP analysis indicated children carrying the risk allele T of ZFHX1B rs13382811 and allele A of PAX6 rs644242 might have a 4.33- and 6.90-fold of increased risk of Aniso-SE and Aniso-AL development by 3 years, respectively.
This study identified two susceptible gene variants, ZFHX1B rs13382811 and PAX6 rs644242, for anisometropia development in Hong Kong Chinese children, implicating their role in imbalanced refractive change and axial elongation between both eyes.
鉴定与儿童屈光参差发展相关的基因变异。
这是一项基于人群的、横断面和纵向遗传关联研究，涉及 1057 名 6 至 10 岁的儿童，他们既有基线数据又有 3 年随访数据。分析了所有儿童的 6 个单核苷酸多态性（SNP），即 ZC3H11B rs4373767、ZFHX1B rs13382811、KCNQ5 rs7744813、SNTB1 rs7839488、PAX6 rs644242 和 GJD2 rs524952。屈光参差通过双眼间的等效球镜（SE）差异≥1 屈光度（D）（Aniso-SE）和双眼间的眼轴长度（AL）差异≥0.3 毫米（Aniso-AL）定义。分析了单个 SNP 和联合 SNP 效应的遗传关联。
在基线时，ZFHX1B rs13382811 与 Aniso-AL 呈名义相关（比值比 [OR]，1.66；P = 0.003）。在 3 年时，rs13382811 与 Aniso-AL 显著相关（OR，1.49；P = 0.001），并与 Aniso-SE 呈名义相关（OR，1.40；P = 0.01）。此外，PAX6 rs644242 与 3 年时的 Aniso-AL 显著相关（OR，1.45；P = 0.002）。在 3 年随访时，PAX6 rs644242 与 Aniso-AL 的发展显著相关（OR，1.61；P = 0.0003），与 Aniso-SE 的发展呈名义相关（P = 0.03），在基线时没有屈光参差的儿童中，ZFHX1B rs13382811 与 Aniso-AL 的发展呈名义相关（P = 0.02）。累加 SNP 分析表明，携带 ZFHX1B rs13382811 风险等位基因 T 和 PAX6 rs644242 等位基因 A 的儿童，到 3 年时，Aniso-SE 和 Aniso-AL 发展的风险可能分别增加 4.33 倍和 6.90 倍。
本研究鉴定了两个易感基因变异，即 ZFHX1B rs13382811 和 PAX6 rs644242，与香港华裔儿童屈光参差的发展有关，提示它们在双眼屈光变化和眼轴伸长不平衡方面的作用。
