Independent association of whole blood miR-328 expression and polymorphism at 3′UTR of the PAX6 gene with myopia

• Published in: Gene Vol. 687; pp. 151 - 155
• Main Authors: Kunceviciene, Edita, Liutkeviciene, Rasa, Budiene, Brigita, Sriubiene, Margarita, Smalinskiene, Alina
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 01.03.2019
• Subjects: 3' untranslated regions; alleles; blood cells; blood sampling; DNA; genotype; genotyping; homeotic genes; MiR-328; Myopia; odds ratio; patients; PAX6; quantitative polymerase chain reaction; risk; single nucleotide polymorphism; OR; D; OS; RNA; CI; MMP2; MiRNA; ROC; MiR-328; Myopia; PAX6; EDTA; AUC; Ct; RT-PGR; SE; UTR; SNP; OD; DNA; PCR
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2018.11.030

This study aimed to find associations between miR-328 expression in whole blood, polymorphism at 3′UTR of the PAX6 gene (paired box homeotic gene 6) and myopia. We evaluated 451 individuals (142 individuals with low, 49 with moderate and 13 with high-degree myopia, and 247 healthy individuals). DNA and RNA were extracted from peripheral blood samples. Expression of miR-328 was assessed and genotyping of single-nucleotide polymorphisms (SNPs) of the PAX6 (rs662702) performed using the Applied Biosystems 7900HT Real-Time Polymerase Chain Reaction System. Moderate and high degree myopia showed significant differences between TT and CT genotypes of the PAX6 gene (p < 0.001). In the myopia group, 71.4% of the subjects had the TT genotype and 28.6% had the CT genotype; meanwhile in the control group, 97.1% had the TT genotype and 2.9% had the CT genotype. The odds ratio of having moderate and/or high degree myopia for individuals with the CT genotype was 13.6 (2.865–64.55) 95% CI versus TT genotype (p = 0.001). MiR-328 results showed that ∆Ct values differed statistically significantly between the myopia and control groups. Patients with myopia in the peripheral blood cells had a higher expression of miR-328 than controls (p < 0.05). Significant differences were detected between the PAX6 gene (rs662702) TT and CT genotypes in moderate and high degree myopia; the risk C allele increased the risk for myopia. The expression level of miR-328 in peripheral blood cells was higher in patients with myopia than controls. We did not find the association between expression of mir-328 in the peripheral blood cells and PAX6 gene (rs662702) polymorphism comparing myopia and control groups. •Patients with myopia are more likely to have the PAX6 (rs662702) with the risk allele C compared with the controls.•The odds ratio of having myopia for individuals with the CT genotype of PX6 (rs662702) was 13.6 versus TT genotype.•Independent association between expression of mir-328 in the blood cells and PAX6 (rs662702) comparing myopia and controls.