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Genetic Association Of SNPs Near ATOH7, CARD10, CDKN2B, CDC7 And SIX1/SIX6 With The Endophenotypes Of Primary Open Angle Glaucoma In Indian Population

Ferdinamarie Sharmila Philomenadin, R. Asokan, V. N, R. George, V. Lingam, S. Sarangapani
Published 2015 · Medicine, Biology

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Primary open angle glaucoma (POAG) belonging to a group of optic neuropathies, result from interaction between genetic and environmental factors. Study of associations with quantitative traits (QTs) is one of the successful strategies to understand the complex genetics of POAG. The current study attempts to explore the association of variations near/in genes like ATOH7, SIX1/SIX6 complex, CDKN2B, CARD10, and CDC7 with POAG and its QTs including vertical cup to disc ratio (VCDR), central corneal thickness (CCT), intra ocular pressure (IOP), and axial length (AL). Case-control study design was carried out in a sample size of 97 POAG cases and 371 controls from South India. Model-based (additive, recessive, dominant) association of the genotypes and their interaction was carried out between cases and controls using chi-square, linear and logistic regression methods. Nominal significance (P<0.05) was observed for QTs like i) VCDR with SNPs rs1900004 (ATOH7); rs1192415 (CDC7); rs10483727 (SIX1/SIX6), rs9607469 (CARD10); ii) CCT with rs1192415; iii) IOP with rs1900004 and iv) AL with rs1900004 and rs1063192 (CDKN2B). We were able to replicate previously known interactions between ATOH7-SIX6 and SIX6-CDKN2B along with few novel interactions between ATOH7—CDC7 and SIX6 with genes including CARD10 and CDC7. In summary, our results suggest that a probable interaction among the candidate genes for QTs, play a major role in determining the individual’s susceptibility to POAG.
This paper references
Atoh7 promotes the differentiation of retinal stem cells derived from Müller cells into retinal ganglion cells by inhibiting Notch signaling
Wei-Tao Song (2013)
Erratum: Genetic dissection of myocilin glaucoma (Human Molecular Genetics (2004) vol. 13 (R91-R102))
G. Gong (2004)
Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility.
A. Meguro (2010)
Math5 determines the competence state of retinal ganglion cell progenitors.
Zhiyong Yang (2003)
The global impact of glaucoma.
B. Thylefors (1994)
New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.
V. Vitart (2010)
Long noncoding RNA, polycomb, and the ghosts haunting INK4b-ARFINK4a expression
F Aguilo (2011)
Open-angle glaucoma in an urban population in southern India: the Andhra Pradesh eye disease study.
L. Dandona (2000)
The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway.
J. M. Skarie (2008)
The Heritability of Glaucoma-Related Traits Corneal Hysteresis, Central Corneal Thickness, Intraocular Pressure, and Choroidal Blood Flow Pulsatility
E. Freeman (2013)
Long noncoding RNA, polycomb, and the ghosts haunting INK4b-ARF-INK4a expression.
F. Aguiló (2011)
Prevalence of open-angle glaucoma in a rural south Indian population.
L. Vijaya (2005)
Common genetic variants associated with open-angle glaucoma.
W. Ramdas (2011)
Role of CYP1B1, MYOC, OPTN and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients
A. Kumar (2007)
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.
Lev Prasov (2012)
Family History and Risk of Primary Open Angle Glaucoma
J. Tielsch (2010)
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
K. Burdon (2011)
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
Henriët Springelkamp (2014)
Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology.
L. V. van Koolwijk (2007)
Association between genetic variants associated with vertical cup-to-disc ratio and phenotypic features of primary open-angle glaucoma. Ophthalmology
F Mabuchi (2012)
Genetic and environmental risk factors for primary open-angle glaucoma.
Bao-jian Fan (2004)
WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: analysis of gene-gene interactions.
C. Blanco-Marchite (2011)
Reduction in the incidence of type 2 diabetes with lifestyle intervention or metformin.
W. Knowler (2002)
Collagen-related genes influence the glaucoma risk factor, central corneal thickness.
E. Vithana (2011)
The genetics of primary open-angle glaucoma: a review.
R. Allingham (2009)
Evaluation of Genetic Association of the INK4 Locus with Primary Open Angle Glaucoma in East Indian Population
M. Vishal (2014)
Association between genetic variants associated with vertical cuptodisc ratio and phenotypic features of primary openangle glaucoma
F Mabuchi (2012)
Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations.
B. Cornes (2012)
Association between genetic variants associated with vertical cup-to-disc ratio and phenotypic features of primary open-angle glaucoma.
Fumihiko Mabuchi (2012)
A Genome-Wide Association Study of Optic Disc Parameters
W. Ramdas (2010)
Family history and risk of primary open angle glaucoma. The Baltimore Eye Survey.
J. Tielsch (1994)
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation
B. Xin (2009)
The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness.
J. Charlesworth (2010)
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
Y. Lu (2013)
A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.
W. Osman (2012)
Comprehensive analysis of myocilin variants in east Indian POAG patients
D. Banerjee (2012)
Genome-wide association study and meta-analysis of intraocular pressure
A. B. Ozel (2013)
Variations in NTF4, VAV2, and VAV3 genes are not involved with primary open-angle and primary angle-closure glaucomas in an indian population.
K. N. Rao (2010)
Interactive effects of ATOH7 and RFTN1 in association with adult-onset primary open-angle glaucoma.
J. Chen (2012)
Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss.
S. Loomis (2014)
Math5 promotes retinal ganglion cell expression patterns in retinal progenitor cells
Jing Yao (2007)
Epidemiology: Prevalence of Glaucoma in India: A Review
R. George (2007)
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size
S. MacGregor (2010)
Methods and design of the Chennai Glaucoma Study
H. Arvind (2003)
A population based survey of the prevalence and types of glaucoma in rural West Bengal: the West Bengal Glaucoma Study
A. Raychaudhuri (2005)
Open-angle glaucoma in an urban population in southern India: the Andhra Pradesh eye disease
L Dandona (2000)
Genetic risk of primary open angle glaucoma
Roger C. W. Wolfs (1998)
Protein synthesis and degradation are required for the incorporation of modified information into the pre-existing object-location memory
J. Choi (2009)
Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.
A. Iglesias (2014)
Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study.
R. Wolfs (1998)
CDKN2B Polymorphism Is Associated with Primary Open-Angle Glaucoma (POAG) in the Afro-Caribbean Population of Barbados, West Indies
D. Cao (2012)
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
Blue Mountains Eye Study-GWAS groupw (2014)
Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.
C. Khor (2011)
Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population.
B. Fan (2011)
OPTN gene: profile of patients with glaucoma from India.
S. Sripriya (2006)
Genetic dissection of myocilin glaucoma.
G. Gong (2004)
Low frequency of myocilin mutations in Indian primary open‐angle glaucoma patients
S. Sripriya (2004)
Ocular trauma in a rural south Indian population: the Aravind Comprehensive Eye Survey.
P. Nirmalan (2004)
Association of CAV 1 / CAV 2 genomic variants with primary openangle glaucoma overall and by gender and pattern of visual field loss
SJ Loomis (2014)
Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin
T. Rezaie (2002)
Prevalence of Glaucoma in India : A Review
R. George (2008)

This paper is referenced by
Transcriptome analysis of the zebrafish atoh7−/− Mutant, lakritz, highlights Atoh7‐dependent genetic networks with potential implications for human eye diseases
G. Covello (2020)
CDKN2B gene rs1063192 polymorphism decreases the risk of glaucoma
Zhenxian Hu (2017)
Genetic variants associated with primary open angle glaucoma in Indian population.
Sunil Kumar (2017)
Strategies for Gene Mapping in Inherited Ophthalmic Diseases
Sundar Srilekha (2016)
Polymorphism rs10483727 in the SIX1/SIX6 Gene Locus Is a Risk Factor for Primary Open Angle Glaucoma in a Saudi Cohort.
Altaf A. Kondkar (2018)
Identification and characterization of variants and a novel 4 bp deletion in the regulatory region of SIX6, a risk factor for primary open‐angle glaucoma
Mohd Hussain Shah (2017)
Association of the SIX6 locus with primary open angle glaucoma in southern Chinese and Japanese
Shi Song Rong (2019)
Polymorphism analysis of miR182 and CDKN2B genes in Greek patients with primary open angle glaucoma
M. Moschos (2020)
Major review: Molecular genetics of primary open‐angle glaucoma
Y. Liu (2017)
Analysis of Cyclin-Dependent Kinase Inhibitor-2B rs1063192 Polymorphism in Saudi Patients with Primary Open-Angle Glaucoma.
Khaled K. Abu-Amero (2016)
Loss of foxc1 in zebrafish reduces optic nerve size and cell number in the retinal ganglion cell layer
Jurgienne Umali (2019)
Identification and genotype phenotype correlation of novel mutations in SIX6 gene in primary open angle glaucoma
Kuldeep Mohanty (2018)
Quantitative Trait for Glaucoma
S. S. Sripriya (2019)
Glaucoma Association of Gene Polymorphisms With Primary Open Angle Glaucoma : A Systematic Review and Meta-Analysis
Min Chen (2019)
The polymorphisms of ATOH 7, ET‐1 and ACE in non‐arteritic anterior ischemic optic neuropathy
Ting Chen (2018)
The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma
Wioletta Rozpędek-Kamińska (2020)
Rare variants in optic disc area gene CARD10 enriched in primary open‐angle glaucoma
T. Zhou (2016)
Genome-Wide Association Studies of Glaucoma
Zachary M. Dong (2017)
Analysis of Polymorphism rs1900004 in Atonal bHLH Transcription Factor 7 in Saudi Patients with Primary Open Angle Glaucoma.
Altaf A. Kondkar (2016)
Transcriptome analysis of the zebrafish atoh7−/− mutant, lakritz, highlights Atoh7-dependent genetic networks with potential implications for human eye diseases
Giuseppina Covello (2020)
Age-dependent regional retinal nerve fibre changes in SIX1/SIX6 polymorphism
Jason Charng (2020)
Association of three single nucleotide polymorphisms at the SIX1-SIX6 locus with primary open angle glaucoma in the Chinese population
Jinghong Sang (2016)
Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus
Bao Jian Fan (2018)
Association of Gene Polymorphisms With Primary Open Angle Glaucoma: A Systematic Review and Meta-Analysis.
M. Chen (2019)
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