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Tytuł pozycji:

Suggestive evidence of genetic association of -572G > C polymorphism with primary open angle glaucoma in a North Indian Punjabi population.

Tytuł :
Suggestive evidence of genetic association of -572G > C polymorphism with primary open angle glaucoma in a North Indian Punjabi population.
Autorzy :
Thakur N; Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India.
Kumar Pandey R; Thermo Fisher Scientific, Bengaluru, Karnataka, India.
Kumar V; Sardar Bahadur Sohan Singh Eye Hospital, Amritsar, Punjab, India.
Mannan R; All India Institute of Medical Sciences, New Delhi, India; Baba Deep Singh Ji Charitable Hospital, Amritsar, Punjab, India; VisiCare Eye Centre, Amritsar, Punjab, India.
Pruthi A; All India Institute of Medical Sciences, New Delhi, India; Baba Deep Singh Ji Charitable Hospital, Amritsar, Punjab, India; VisiCare Eye Centre, Amritsar, Punjab, India.
Mehrotra S; Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India. Electronic address: .
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Źródło :
Human immunology [Hum Immunol] 2021 Oct; Vol. 82 (10), pp. 791-797. Date of Electronic Publication: 2021 Jul 21.
Typ publikacji :
Journal Article
Język :
English
Imprint Name(s) :
Original Publication: [New York] Elsevier/North-Holland.
Contributed Indexing :
Keywords: Genetic association study; IL6; Plasma and aqueous humor; Primary open angle glaucoma (POAG); −174G>C & −572G>C polymorphism
Entry Date(s) :
Date Created: 20210724 Latest Revision: 20210920
Update Code :
20210921
DOI :
10.1016/j.humimm.2021.06.009
PMID :
34301420
Czasopismo naukowe
Background: IL6 is an important candidate gene implicated in the pathogenesis of glaucoma. The present study assessed the genetic association of -174G > C and -572G > C polymorphisms in the IL6 promoter region with primary open angle glaucoma (POAG) and primary angle closure glaucoma (PACG) in a north Indian Punjabi cohort.
Methods: 910 subjects (313 POAG, 148 PACG cases and 449 controls) were recruited. Genotyping was done by TaqMan assays. Genetic association was tested under different genetic models using Plink. Diplotype and linkage disequilibrium (LD) analysis was done through Haploview. Association of clinical parameters with the genotypes was assessed by one-way ANOVA. Adjustment for potential confounding variables was done by binary logistic regression. IL6 levels were measured in POAG patients and controls.
Results: 572G > C variant showed marginal difference in genotype frequency between pooled cases and POAG subgroup with respect to controls (p = 0.042; OR = 1.33; and p = 0.041; OR = 1.37). The GC genotype conferred 1.37-fold protection under codominant model in POAG cases (p = 0.034, OR = 1.37, 95% CI = 1.02-1.85; p corr  = 0.025, OR = 1.45, 95% CI = 1.04-2.02). The mean value for IOP was elevated among cases having 'CC' genotype at the -572G > C locus (p = 0.037). Lower levels of IL6 were detected in POAG patients in plasma samples (p = 0.0001).
Conclusion: The study reports suggestive evidence for -572G > C variant in IL6 in affecting genetic susceptibility to POAG in the targeted North Indian Punjabi cohort. A correlation of IL6 levels in aqueous humor (AH) and systemic circulation in POAG was observed, the functional and diagnostic relevance of which may be further investigated.
(Copyright © 2021 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.)

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