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

Sang, Jinghong; Jia, Ling; Zhao, Bowen; Wang, Huaizhou; Zhang, Nihong; Wang, Ke

doi:10.1007/s11427-016-5073-y

Cited by 14 publications

(14 citation statements)

References 28 publications

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“…A total of 27,303 subjects (10,563 POAG patients and 16,740 controls) in 17 cohorts from 12 studies were metaanalyzed for the association between rs33912345 and POAG (Table 3). 17,19,23,24,26,27,29,32,33,35,37,38 The heterogeneity in the overall population (I 2 ¼ 37.2%) was slightly lower than that for rs10483727, but higher in South Asian and Caucasian cohorts (I 2 ¼ 70.4% and I 2 ¼ 28.1%, respectively; Fig. 3 and Supplementary Table S4).…”

Section: Associations Between Six1-six6 Snps and Poagmentioning

confidence: 91%

“…Sixteen studies provided results on the POAG association of rs10483727 in 20 cohorts (Table 2), involving a total of 41,827 subjects (14,402 patients and 27,425 controls). 14,22,[24][25][26][27][28][30][31][32][33][34]36,38,46,47 There was moderate interstudy heterogeneity (I 2 ¼ 43.7%) among the 20 cohorts when analyzing the unadjusted ORs under the allelic model ( Fig. 2 and Supplementary Table S3).…”

Section: Associations Between Six1-six6 Snps and Poagmentioning

confidence: 96%

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Association of Polymorphisms at theSIX1-SIX6Locus With Primary Open-Angle Glaucoma

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. To evaluate the association of single-nucleotide polymorphisms (SNPs) in the SIX1-SIX6 locus with primary open-angle glaucoma (POAG) through a systematic review and metaanalysis from 22 studies. METHODS. To our knowledge, all case-control association studies on SNPs in the SIX1-SIX6 locus and POAG reported up to August 30, 2018, in PubMed, Embase, and Web of Science were retrieved. Unadjusted and adjusted odds ratios (ORs) and 95% confidence intervals (95% CIs) for each SNP were calculated using a fixed-or random-effect model according to interstudy heterogeneity. RESULTS. This meta-analysis involved 12 SNPs in SIX1-SIX6 reported in 22 studies. The association of rs10483727 with POAG has been presented in 16 studies involving 14,402 patients and 27,425 controls, whereas rs33912345 has been investigated in 12 studies involving 10,563 patients and 16,740 controls. Meta-analyses revealed significant associations of these two SNPs with POAG in the pooled populations under all genetic models. Stratified analyses by population detected significant association of both SNPs in the East Asian and Caucasian subgroups, but not in South Asian or African subgroups. Among the other SNPs that were reported by up to four cohorts of East Asian and African ancestries, only rs12436579 showed a significant association in the meta-analysis (OR ¼ 0.79, P ¼ 1.08 3 10 À4). CONCLUSIONS. This meta-analysis confirmed the association of rs10483727 and rs33912345 in SIX1-SIX6 with POAG. The associations of both SNPs were specifically detected in East Asian and Caucasian cohorts, rather than in South Asian and African cohorts, suggesting an ethnic difference. SNP rs12436579 is a candidate variant for the disease that awaits validation in other populations.

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Section: Associations Between Six1-six6 Snps and Poagmentioning

confidence: 91%

Section: Associations Between Six1-six6 Snps and Poagmentioning

confidence: 96%

Association of Polymorphisms at theSIX1-SIX6Locus With Primary Open-Angle Glaucoma

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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“…Besides, it has been demonstrated that the correlation between rs10483727 and rs33912345 variants and POAG pathogenesis was significant in patients aged between 20 and 40 years, but not in those aged above 40 years in the HTG group, whereas in the NTG individuals, the genetic association has been found in both younger and older subgroups for rs33912345. For rs10483727, a direct correlation has been indicated only for individuals with NTG above 40 years old [241]. A significant association between rs10483727 (C > T) variant in SIX1/SIX6 locus and POAG pathogenesis has also been confirmed in the Saudi Arabia population [242].…”

Section: Six1/six6mentioning

confidence: 97%

The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma

Rozpędek‐Kamińska

Wojtczak

Szaflik

et al. 2020

IJMS

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Glaucoma is a heterogenous, chronic, progressive group of eye diseases, which results in irreversible loss of vision. There are several types of glaucoma, whereas the primary open-angle glaucoma (POAG) constitutes the most common type of glaucoma, accounting for three-quarters of all glaucoma cases. The pathological mechanisms leading to POAG pathogenesis are multifactorial and still poorly understood, but it is commonly known that significantly elevated intraocular pressure (IOP) plays a crucial role in POAG pathogenesis. Besides, genetic predisposition and aggregation of abrogated proteins within the endoplasmic reticulum (ER) lumen and subsequent activation of the protein kinase RNA-like endoplasmic reticulum kinase (PERK)-dependent unfolded protein response (UPR) signaling pathway may also constitute important factors for POAG pathogenesis at the molecular level. Glaucoma is commonly known as a ‘silent thief of sight’, as it remains asymptomatic until later stages, and thus its diagnosis is frequently delayed. Thereby, detailed knowledge about the glaucoma pathophysiology is necessary to develop both biochemical and genetic tests to improve its early diagnosis as well as develop a novel, ground-breaking treatment strategy, as currently used medical therapies against glaucoma are limited and may evoke numerous adverse side-effects in patients.

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“…Sequence variants located in the SIX1 - SIX6 locus (chromosome 14q23) have been associated with vertical cup-to-disc ratio (VCDR), myopia, and POAG (Burdon et al, 2015; Chen et al, 2015b; Fan et al, 2011; Osman et al, 2012; Philomenadin et al, 2015; Ramdas et al, 2010; Ramdas et al, 2011b; Sang et al, 2016; Verhoeven et al, 2013; Wiggs et al, 2012). SIX6 protein in humans is homologous to the “sine oculis” protein in Drosophila (Carnes et al, 2014; Iglesias et al, 2014).…”

Section: Association Studies In Poagmentioning

confidence: 99%

Major review: Molecular genetics of primary open-angle glaucoma

Liu

Allingham

2017

Experimental Eye Research

127

106

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Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle glaucoma (POAG), the most common type, is a complex inherited disorder that is characterized by progressive retinal ganglion cell death, optic nerve head excavation, and visual field loss. The discovery of a large, and growing, number of genetic and chromosomal loci has been shown to contribute to POAG risk, which carry implications for disease pathogenesis. Differential gene expression analyses in glaucoma-affected tissues as well as animal models of POAG are enhancing our mechanistic understanding in this common, blinding disorder. In this review we summarize recent developments in POAG genetics and molecular genetics research.

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

Cited by 14 publications

References 28 publications

Association of Polymorphisms at theSIX1-SIX6Locus With Primary Open-Angle Glaucoma

Association of Polymorphisms at theSIX1-SIX6Locus With Primary Open-Angle Glaucoma

The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma

Major review: Molecular genetics of primary open-angle glaucoma

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