Lack of Association between Fibromodulin rs7543418 Gene and High Myopia

Background: The development of high myopia is associated with altered extracellular matrix (ECM) biochemistry. The ECM Fibromodulin (FMOD) is expressed in ocular tissue and regulates assembly of collagen network. The FMOD null mice show certain features of high myopia. The purpose of this investigation was to test the variation between high myopia and FMOD rs7543418 in the human cohorts. Methods: This case control study compared genotype distribution of 157 subjects including myopic cases (n=105) with spherical equivalent of -6.0 diopters (D) or more negative refractive error and control cases (n=52) with a spherical equivalent within ± 1.0 D. Genotyping of single nucleotide polymorphisms (SNPs) was conducted by polymerase chain reaction (PCR) and temporal temperature gradient gel electrophoresis (TTGE) followed by DNA sequencing. Results: DNA sequencing of fibromodulin amplicons yielded the expected sequence with identification of a single silent polymorphism G→A variation at c.237G>A without any statistical difference. Conclusions: Fmod null mice showed certain features of high myopia, however our human cohort did not show affected status association with fibromodulin. This study has shown the sequence variation in FMOD is not related to high myopia, allowing its exclusion as a candidate gene for studying high myopia in Kashmiri ethnic populace