Replication of a Glaucoma Candidate Gene on 5q22.1 for Intraocular Pressure in Mongolian Populations: The GENDISCAN Project

Abstract

The findings support evidence that IOP regulation is associated with the 5q22.1 region, along with four other candidate regions. The present results further indicate that genetic factors regulating IOP in the general Mongolian population are linked to regions harboring POAG genes, suggesting that common genetic factors influence both normal IOP variation and POAG occurrence. In addition, the replication of previous findings concerning POAG regions from the white and African populations implies that the mutations regulating IOP levels did not occur recently.

Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma

“…The first was identified in an Australian glaucoma pedigree and was located on 10q22 [20]. The second was identified in individuals without glaucoma in West Africa and Mongolia and was located in the 5q22-23 region, which had already been implicated in glaucoma ( WDR36 gene and GLC1M locus) [3], [23]–[25]. Taken together, these findings suggest that extensive heterogeneity underlies the genetics of IOP and that the same genetic factors may possibly affect both the variance in normal IOP and the risk and onset of glaucoma.…”

Advances in glaucoma genetics

“…Subsequent reports confirmed the positive association of WDR36 variants with POAG (Lee et al, 2010;Mookherjee et al, 2011;Pasutto et al, 2008;Weisschuh et al, 2007). However, inconsistent results were also reported (Fingert et al, 2007;Hewitt et al, 2006;Kramer et al, 2006;Pang et al, 2006).…”

Genome-wide linkage analysis for ocular and nasal anthropometric traits in a Mongolian population

“…We have also reported genetic evidence and candidate loci for heart rate, QT interval and intraocular pressure in inhabitants of rural areas of Mongolia (Gombojav et al, 2008;Im et al, 2009;Lee et al, 2010). Here, we performed a large-scale investigation of the ocular and nasal anthropometric traits in a Mongolian population, and obtained precise and reliable measurements.…”