A coding polymorphism in matrix metalloproteinase 9 reduces risk of scarring sequelae of ocular Chlamydia trachomatis infection.

BMC Medical Genetics
Angels NatividadRobin L Bailey

Abstract

Trachoma, an infectious disease of the conjunctiva caused by Chlamydia trachomatis, is an important global cause of blindness. A dysregulated extracellular matrix (ECM) proteolysis during the processes of tissue repair following infection and inflammation are thought to play a key role in the development of fibrotic sequelae of infection, which ultimately leads to blindness. Expression and activity of matrix metalloproteinase 9 (MMP-9), a major effector of ECM turnover, is up-regulated in the inflamed conjunctiva of trachoma subjects. Genetic variation within the MMP9 gene affects in vitro MMP9 expression levels, enzymatic activity and susceptibility to various inflammatory and fibrotic conditions. We genotyped 651 case-control pairs from trachoma endemic villages in The Gambia for coding single nucleotide polymorphisms (SNPs) in the MMP9 gene using the high-throughput Sequenom system. Single marker and haplotype conditional logistic regression (CLR) analysis for disease association was performed. The Q279R mutation located in exon 6 of MMP9 was found to be associated with lower risk for severe disease sequelae of ocular Chlamydia trachomatis infection. This mutation, which leads to a nonsynonymous amino-acid change within the ...Continue Reading

References

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Citations

Oct 2, 2008·Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.]·J L Hoover-PlowE Hart
Apr 16, 2009·Clinical Microbiology Reviews·Ineke Vanlaere, Claude Libert
Oct 13, 2010·Infection and Immunity·Matthew J BurtonRobin L Bailey
Oct 28, 2009·PLoS Neglected Tropical Diseases·Matthew J Burton, David C W Mabey
Jun 17, 2009·PLoS Neglected Tropical Diseases·Manoj GambhirNicholas C Grassly
Mar 5, 2013·PLoS Neglected Tropical Diseases·Victor H HuMatthew J Burton
Mar 13, 2014·Vaccine·David C W MabeyMartin J Holland
Jan 23, 2009·FEMS Immunology and Medical Microbiology·Robert C Brunham, Michael L Rekart
Jan 28, 2009·FEMS Immunology and Medical Microbiology·Servaas A MorréSander Ouburg
Feb 26, 2015·Anais Da Academia Brasileira De Ciências·Juliana L DreyfussJoão R Martins
Feb 10, 2017·Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases·A F M JansenM van Deuren
Mar 20, 2019·Journal of Ocular Pharmacology and Therapeutics : the Official Journal of the Association for Ocular Pharmacology and Therapeutics·Ting WangShiqi Ling
May 27, 2021·Gates Open Research·UNKNOWN NTD Modelling Consortium discussion group on trachoma

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Methods Mentioned

BETA
biopsy

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