ABSTRACT
AIM: To investigate the single nucleotide polymorphisms (SNPs) in the METTL4 gene which was mapped to 18p11.31, and the relationship between the SNPs and high myopia. METHODS: Genomic DNA was collected from 71 control subjects and 177 individuals with high myopia. Among them, there were 59 autosomal dominant high myopia probands (AD group), 46 autosomal recessive probands (AR group) and 72 patients non-transmitted (SF group). The exons of METTL4 gene were analyzed by polymerase chain reaction, heteroduplex-single strand conformation polymorphism (HA-SSCP) and sequencing. RESULTS: There were 2 SNPs of METTL4 gene in high myopia individuals and control subjects: SNP7438A→C, Glu230Asp, which hadn't been reported in GenBank;and SNP131C→A, Gln310Lys. SNP7438A→C genotypes between controls and high myopia groups were not different. SNP131C→A genotypes between controls and AR or SF groups were not different, while SNP131C→A genotypes showed a significant difference between AD group and control subjects. CONCLUSION: In METTL4 gene, SNP7438A→C is not responsible for high myopia. Further studies are needed to confirm whether SNP131C→A is responsible for autosomal dominant high myopia.