Assessment of single nucleotide polymorphisms associated with steroid-induced ocular hypertension  

作　　者：Lakshmi Badrinarayanan Srujana Chitipothu Sharada Ramasubramanyan Sarangapani Sripriya Pukhraj Rishi Ekta Rishi Ronnie George Baddireddi Subhadra Lakshmi Sailaja VElchuri 

机构地区：[1]Department of Nano-biotechnology,KNBIRVO block,Vision Research Foundation,Chennai,TamilNadu 600006,India [2]Department of Biotechnology,Anna University,Chennai,TamilNadu 600025,India [3]Central Research Instrumentation Facility,KNBIRVO block,Vision Research Foundation,TamilNadu 600006,India [4]RS.Mehta Jain,Department of Biochemistry and Cell Biology,KNBIRVO block,Vision Research Foundation,Chennai,TamilNadu 600006,India [5]SNONGC Department of Genetics and Molecular Biology,KNBIRVO block,Vision Research Foundation,Chennai,TamilNadu 600006,India [6]Shri Bhagwan Mahavir Vitreo-Retinal Service,Medical Research Foundation,Chennai,TamilNadu 600006,India [7]Smt.Jadhavbai Nathamal Singhree Glaucoma Service,Medical Research Foundation,Chennai,TamilNadu 600006,India

出　　处：《International Journal of Ophthalmology(English edition)》2020年第8期1294-1305,共12页国际眼科杂志（英文版）

基　　金：Supported by equally the Department of Biotechnology under the grant(No.BT/PR3580/PID/6/625/2011);Indian Council of Medical Research(ICMR)under grant[No.82/19/2012/PHGEN(TF)/BMS]。

摘　　要：AIM:To access the association of forty-eight single nucleotide polymorphisms(SNPs)identified from Caucasian population with steroid-induced ocular hypertension(OHT)in India population.METHODS:Fifty-four triamcinolone-acetonide(TA)and for ty-seven dexamethasone(Dex)administered subjects were enrolled in the study after a written consent.Intraocular pressure(IOP)values were recorded for a period of 6-month post steroid injections and patients were grouped as steroid-responders(SR:IOP≥21 mm Hg)and non-responders(NR:IOP≤20 mm Hg).Genomic DNA was isolated from peripheral venous blood.Forty-eight SNPs identified in TA treated Caucasian patients by genome wide association study(GWAS)were genotyped using iPLEXTM MassA RRAY among TA as well as Dex administered Indian patients.Genotyping data of 48 general subjects from a previous study were considered as reference controls for statistical analysis.Genotypic frequencies were calculated and P-value,Chi-square and odds ratio at 95%confidenceinterval of group A(steroid treated vs controls),group B(SR vs NR),group C(phenotype correlation:influence of time,severity and gender on IOP rise),were calculated.P<0.05 was considered to be statistically significant.RESULTS:OHT was observed in 50%of TA and 26%of Dex administered patients,respectively.IOP rise was mostly severe(>30 mm Hg)and immediate(<1 wk)among TA-SR patients while it was noticed to be mild(<30 mm Hg)and between 1-2 mo among Dex-SR patients.Logistic regression for risk factor correlation with OHT remained non-significant,hence these factors were not considered as confounding parameters for further analysis.rs133,rs34016742,rs274554,rs10936746,rs274547,rs804854,rs7751500,rs359498,and rs7547448 SNPs significantly varied even after Bonferroni corrections(P<0.0025;group A).rs1879370(TA)and rs6559662(Dex)were significantly(P<0.05)associated with OHT(group B).rs133(severe IOP rise),rs11047639 and rs1879370(male gender),and rs11171569(immediate IOP rise)significantly(P<0.05)influenced the phenotype correlation only among

关 键 词：triamcinolone-acetonide DEXAMETHASONE ocular hypertension single nucleotide polymorphisms diabetes NEURODEGENERATION MYOPIA 

分 类 号：R775[医药卫生—眼科]