Genetic association of -1562C>T polymorphism in the MMP9 gene with primary glaucoma in a north Indian population

Autor: Rajeev Kumar Pandey, Archna Pruthi, Sanjana Mehrotra, Rashim Mannan, Nanamika Thakur, Manu Kupani
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Retinal Ganglion Cells
Male
0301 basic medicine
Heredity
Eye Diseases
genetic structures
Glaucoma
lcsh:Medicine
Polymerase Chain Reaction
0302 clinical medicine
Animal Cells
Genotype
Medicine and Health Sciences
lcsh:Science
Neurons
Multidisciplinary
Extracellular Matrix
Genetic Mapping
Matrix Metalloproteinase 9
Female
Cellular Types
Anatomy
Cellular Structures and Organelles
Genetic Dominance
Polymorphism
Restriction Fragment Length
Research Article
medicine.medical_specialty
Ganglion Cells
Open angle glaucoma
India
Variant Genotypes
Biology
Genetic Predisposition
Polymorphism
Single Nucleotide
03 medical and health sciences
Ocular System
Ophthalmology
Genetic model
Genetics
medicine
Genetic predisposition
Humans
Genetic Predisposition to Disease
Allele frequency
Genetic association
lcsh:R
Biology and Life Sciences
Afferent Neurons
Optic Nerve
Cell Biology
medicine.disease
eye diseases
Genotype frequency
030104 developmental biology
Cellular Neuroscience
Case-Control Studies
Genetics of Disease
030221 ophthalmology & optometry
Eyes
lcsh:Q
sense organs
Head
Neuroscience
Zdroj: PLoS ONE, Vol 13, Iss 2, p e0192636 (2018)
PLoS ONE
ISSN: 1932-6203
Popis: MMP (Matrix metalloproteinase) 9 is reported to affect glaucoma pathogenesis by altering intraocular pressure (IOP) through its role in remodeling the extracellular matrix (ECM) in the trabecular meshwork. A genetic variant at the promoter region in the MMP9 gene (-1562C>T) has a putative role in regulating its transcription rate and hence can affect genetic predisposition to primary glaucoma. The present study examined the association of -1562C>T promoter polymorphism in the MMP9 gene with Primary Open Angle Glaucoma (POAG) and Primary Angle Closure Glaucoma (PACG) in a north Indian population. A total of 729 subjects (POAG = 224, PACG = 138 and 367 controls) were recruited for the study. Genotyping for the promoter sequence variant was done with PCR-RFLP method. Genotypic and allelic frequency distribution of the POAG and PACG data sets were compared to that of controls by chi-square test and genetic association was tested under different genetic models as implemented under PLINK. Statistically significant difference was observed in the genotype frequencies between PACG cases and controls (p = 0.030). However, in the POAG cases, this difference was only borderline (p = 0.052). Genetic model analysis, under the dominant model revealed 1.6 and 1.4 fold increased susceptibility to PACG and POAG (p = 0.012, p = 0.032) respectively. A higher frequency of CT genotype was observed in PACG as well as POAG males as compared to female subjects. According to the dominant model, CT+TT genotype conferred 1.8 fold higher risk of developing PACG among male patients as compared to the control group (p = 0.048, OR = 1.87;1.00–3.50). Current findings suggest significant association of MMP9 -1562C>T polymorphism with primary glaucoma in the targeted north Indian population and warrant further replication of the findings in other populations.
Databáze: OpenAIRE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje