The association of single nucleotide polymorphisms in the5'-regulatory region of the lumican gene with susceptibility to highmyopia in Taiwan

[摘要] Purpose: To study the relationships between single nucleotidepolymorphisms (SNPs) of lumican, decorin, and DSPG3 genesand high myopia.Methods: One hundred and twenty adult patients with high myopia(< -10.0 D) and 137 controls were used to study the relationshipsbetween the decorin, lumican, and DSPG genes and highmyopia. All subjects were free of ocular diseases, other than myopia, aswell as of other systemic genetic diseases. Genotyping was performed bydirect sequencing after PCR amplification of chromosomal DNA. Allelefrequencies were tested for Hardy-Weinberg disequilibrium. Theχ2 or Fisher test was conducted to investigate the genotypicand allelic distribution between the high myopia and control groups.Results: The genotyping success rate was 100%. Univariate analysisrevealed significant differences between patients and control subjectswith respect to one of the SNPs (rs3759223, C->T) of the lumicangene, with a p value of 0.000283. There was no significant relationshipbetween other SNPs of lumican, decorin, and DSPG genes andhigh myopia.Conclusions: Our results indicate that an SNP (rs3759223), which islocated in the promoter region of the lumican gene, may be worthfurther investigation to determine its association with development ofhigh myopia.

[学科分类] 生物化学/生物物理