Alvarez-Peregrina Cristina, Sánchez-Tena Miguel Ángel, Martinez-Perez Clara, Santiago-Dorrego Catalina, Yvert Thomas, Andreu-Vazquez Cristina, Villa-Collar Cesar
Department of Pharmacy, Biotechnology, Nutrition, Optics and Optometry, Faculty of Biomedical and Health Science, Universidad Europea de Madrid, 28670 Madrid, Spain.
Department of Physiotherapy, Faculty of Sport Sciences, Universidad Europea de Madrid, 28670 Madrid, Spain.
J Clin Med. 2021 Feb 17;10(4):808. doi: 10.3390/jcm10040808.
Many epidemiological and experimental studies have established that myopia is caused by a complex interaction between common genetic and environmental factors. The objective of this study was to describe and compare the allelic and genotypic frequencies of the rs524952 (), rs8000973 (), rs1881492 (), rs1656404 (), rs235770 (), and rs7744813 () SNPs (single-nucleotide polymorphism) between responder and nonresponder patients who had undergone a two-year treatment with lenses for myopia control.
Twenty-eight participants from the MiSight Assessment Study Spain (MASS), who had received treatment for myopia control for two years with MiSight contact lenses, were examined. The criteria for better/worse treatment response was the change in the axial length (< / ≥ 0.22 mm two years after the treatment). The clinical procedure consisted of the extraction of a saliva sample, and the participants also underwent an optometric examination. Genetic data were analyzed using SNPStats software (Catalan Institute of Oncology, Barcelona, Spain), and statistical analysis was performed using SPSS v.25 (SPSS Inc., Chicago, IL, USA). Demographic variables were analyzed using the Student's t-test.
The T allele, the one with the lowest frequency, of the "rs235770" SNP was associated with a better treatment response [AL/CR (axial length/corneal radius): OR = 3.37; CI = 1.079-10.886; SE (spherical equivalent): OR = 1.26; CI: = 0.519-57.169; = 0.019). By performing haplotype analysis, significant differences were found between the rs235770…rs1881492 and rs235770-rs1656404 polymorphisms. The latter presented a strong linkage disequilibrium with each other (r ≥ 0.54).
The result of lens therapies for myopia control could vary depending on genetic variants. Studies with a larger sample are needed to confirm the results presented in this pilot study.
许多流行病学和实验研究已证实，近视是由常见遗传因素和环境因素之间的复杂相互作用引起的。本研究的目的是描述和比较接受两年近视控制镜片治疗的反应者和无反应者患者中rs524952（）、rs8000973（）、rs1881492（）、rs1656404（）、rs235770（）和rs7744813（）单核苷酸多态性（SNP）的等位基因和基因型频率。
对来自西班牙MiSight评估研究（MASS）的28名参与者进行了检查，他们接受了两年的MiSight隐形眼镜近视控制治疗。治疗反应较好/较差的标准是治疗两年后眼轴长度的变化（< /≥0.22mm）。临床程序包括采集唾液样本，参与者还接受了验光检查。使用SNPStats软件（西班牙巴塞罗那加泰罗尼亚肿瘤研究所）分析遗传数据，并使用SPSS v.25（美国伊利诺伊州芝加哥SPSS公司）进行统计分析。使用学生t检验分析人口统计学变量。
“rs235770”SNP频率最低的T等位基因与较好的治疗反应相关[眼轴长度/角膜曲率半径（AL/CR）：比值比（OR）=3.37；置信区间（CI）=1.079 - 10.886；等效球镜（SE）：OR = 1.26；CI = 0.519 - 57.169；P = 0.019]。通过进行单倍型分析，发现rs235770…rs1881492和rs235770 - rs1656404多态性之间存在显著差异。后者彼此呈现出强烈的连锁不平衡（r≥0.54）。
近视控制镜片治疗的结果可能因基因变异而有所不同。需要更大样本量的研究来证实本初步研究的结果。
