Involvement of Genetic Variants Associated With Primary Open-Angle Glaucoma in Pathogenic Mechanisms and Family History of Glaucoma

Association of three single nucleotide polymorphisms at the SIX1-SIX6 locus with primary open angle glaucoma in the Chinese population

“…The SIX1-SIX6 locus was first identified as being associated with increased VCDR, which is considered as one of critical ocular biomarkers for the diagnosis of glaucoma and its progression to blindness (Ramdas et al, 2010). Several subsequent studies have also confirmed that the SIX1/SIX6 locus was significantly correlated with POAG and VCDR in different independent ethnic cohorts (Burdon et al, 2015;Chen et al, 2015;Fan et al, 2011;Iglesias et al, 2014;Mabuchi et al, 2015;Osman et al, 2012b;Philomenadin et al, 2015;Ramdas et al, 2011;Wiggs et al, 2012), but the association has not yet been demonstrated in African cohorts owing to the high frequency of the risk allele both in patients and controls (Liu et al, 2013;Williams et al, 2015). Recently, two population-based studies using cohorts from Singapore and of European-descents showed that both glaucomatous and nonglaucomatous subjects with risk allele variants in the SIX1/SIX6 locus (rs10483727 and rs33912345) were susceptible to thinner retinal nerve fiber layer thickness, which confirmed the results of previous studies (Carnes et al, 2014;Cheng et al, 2015;Kuo et al, 2015).…”

Update on the Prevalence, Etiology, Diagnosis, and Monitoring of Normal-Tension Glaucoma

“…As a positive family history has been found to be a significant risk factor for glaucoma, genetic and/or familial factors are considered to play important roles in glaucoma development. 81 A number of genes [eg, optineurin (OPTN), myocilin (MYOC), WD repeat-containing protein 36 (WDR36), endothelial type receptor, optic atrophy 1 (OPA), Toll-like receptor 4 (TLR4) genes], gene mutations, and genetic variants of NTG have been investigated actively despite conflicting evidence of their associations with NTG. Still, further analyses to find genes pathognomonic to NTG and subsequent analyses on the functions and weights of candidate genes in the development of glaucoma need to be pursued.…”

Genetics of Canine Primary Glaucomas

“…21 Its function remains unknown; the gene encodes for S1 RNA-binding domain and also has been associated with primary glaucoma in human patients. [161][162][163] Another susceptibility locus for canine PACG was mapped to a 9.5-Mb region on canine chromosome 8 in the Dandie Dinmont terriers, but no specific disease gene could be identified by screening positional candidate genes. 28 Although individual genetic risk factors for PACG may be inherited as an autosomalrecessive trait, PACG as a whole is still considered a complex trait.…”