Common Variant in Myocilin Gene Is Associated with High Myopia in Isolated Population of Korčula Island, Croatia

Abstract

Myocilin seems to be a very strong candidate for explaining some of the pathophysiological pathways leading to the development of both glaucoma and high myopia. As our finding was obtained in a relatively under-powered sample, further research and replication of these results is needed.

Whole genome expression profiling of normal human fetal and adult ocular tissues

“…Examples from the 40 most differentially expressed probes in each direction for each tissue include: MYOC (MIM 601652), which has been implicated in the development of myopia (Tang et al, 2007; Vatavuk et al, 2009), had probes with 6.40 and 2.22 fold higher expression in the adult relative to fetal scleral tissue and 74.2 fold higher expression in the adult corneal tissue. LAMA1 (MIM 150320), which has also previously been implicated in myopic development (Zhao et al, 2011), had 30.80 lower fold expression in the adult (relative to fetal) choroid.…”

Evaluation of MYOC, ACAN, HGF, and MET as Candidate Genes for High Myopia in a Han Chinese Population

“…Recently, MYOC, HGF, MET, and ACAN SNPs were reported to lead susceptibility for HM (Han et al, 2006;Tang et al, 2007;Vatavuk et al, 2009;Yanovitch et al, 2009;Yip et al, 2011). However, controversy exists in the previous studies regarding the association between them and HM (Khor et al, 2009;Schache et al, 2009;Zayats et al, 2009).…”

“…We selected 16 SNPs that were previously reported to be associated with myopia or HM at the loci of the MYOC, HGF, MET, and ACAN genes (Han et al, 2006;Tang et al, 2007;Vatavuk et al, 2009;Yanovitch et al, 2009;Yip et al, 2011). Venous blood from each subject was drawn and collected in an EDTA tube.…”

“…However, no convincing causal genes have yet been identified at these loci. Recently, the candidate gene association studies of HM or refractive error have led to the identification of several susceptible genes including the myocilin (MYOC) gene, the hepatocyte growth factor (HGF) gene, the hepatocyte growth factor receptor (MET) gene, and the aggrecan (ACAN) gene (Han et al, 2006;Tang et al, 2007;Vatavuk et al, 2009;Yanovitch et al, 2009;Yip et al, 2011). To further investigate whether these genes are associated with HM in Han Chinese, 16 single nucleotide polymorphisms (SNPs), which were previously reported to be associated with myopia or HM of the MYOC, HGF, MET, and ACAN genes, have been chosen to be tested in this study in a Han Chinese population composed of 1052 HM cases and 1070 normal controls.…”