Polymorphic Variants 279R and 668Q Augment Activity of Matrix Metalloproteinase-9 in Breath Condensates of Children with Asthma.

Polymorphic Variants 279R and 668Q Augment Activity of Matrix Metalloproteinase-9 in Breath Condensates of Children with Asthma.

Arch Immunol Ther Exp (Warsz). 2016 Jul 9;

Authors: Grzela K, Zagórska W, Krejner A, Litwiniuk M, Zawadzka-Krajewska A, Kulus M, Grzela T

Abstract
Matrix metalloproteinase (MMP)-9 is involved in pathophysiology of asthma, mainly asthma-associated airway remodeling. Exhaled breath condensates (EBC) of asthmatics contain increased amounts of MMP-9 with activity higher, than in healthy controls. The increased activity of MMP-9 may originate from its excessive production and activation, but may also result from variations in MMP-9 structure, which are determined by single nucleotide polymorphisms (SNPs). In this pilot study we aimed to assess the possible influence of two functional MMP-9 polymorphisms, Q279R and R668Q, on enzymatic activity of MMP-9, measured in EBC of asthmatic children. The concentration and activity of MMP-9 were analyzed in EBC of 20 children with allergic asthma using specific standard ELISA and novel immunoenzymatic activity assay. The SNPs of MMP-9 were assessed using real-time PCR-based genotyping test. We have found that MMP-9 concentration in breath condensates of children with stable asthma was slightly higher in ELISA, than in the activity assay. Moreover, these results and activity-to-amount ratio have revealed some relationship with a presence of specific 279R and/or 668Q MMP-9 gene variants. Our observation suggests that at least in some patients MMP-9 hyperactivity may result from genetic predisposition, determined by polymorphic variants of MMP-9 gene. Moreover, it supports previous reports postulating significance of MMP-9 in pathogenesis of asthma. However, this issue still requires further studies.

PMID: 27395373 [PubMed – as supplied by publisher]

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Genetics of allergy and allergic sensitization: common variants, rare mutations.

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Genetics of allergy and allergic sensitization: common variants, rare mutations.

Curr Opin Immunol. 2015 Sep 16;36:115-126

Authors: Bønnelykke K, Sparks R, Waage J, Milner JD

Abstract
Our understanding of the specific genetic lesions in allergy has improved in recent years due to identification of common risk variants from genome-wide association studies (GWAS) and studies of rare, monogenic diseases. Large-scale GWAS have identified novel susceptibility loci and provided information about shared genetics between allergy, related phenotypes and autoimmunity. Studies of monogenic diseases have elucidated critical cellular pathways and protein functions responsible for allergy. These complementary approaches imply genetic mechanisms involved in Th2 immunity, T-cell differentiation, TGF? signaling, regulatory T-cell function and skin/mucosal function as well as yet unknown mechanisms associated with newly identified genes. Future studies, in combination with data on gene expression and epigenetics, are expected to increase our understanding of the pathogenesis of allergy.

PMID: 26386198 [PubMed – as supplied by publisher]

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Genetic variants may explain link between infant antibiotic use and asthma – Medical News Today


Times of India

Genetic variants may explain link between infant antibiotic use and asthma
Medical News Today
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Science World Report

Blame LABA Risks in Asthma on Gene Variants?
MedPage Today
Six variants in the beta2-adrenergic receptor gene (ADRB2) found in fewer than 5% of LABA-treated asthma patients were associated with double the incidence of a related hospital admission overall compared with common variants (44% versus 22% in 12 
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Genetic Variants and Wheezing Put Kids At Risk For Asthma – TIME


TIME

Genetic Variants and Wheezing Put Kids At Risk For Asthma
TIME
Previous research found that wheezing-related illnesses can increase a child's risk for developing asthma, and other studies connected certain genetic factors to this heightened tendency to wheeze. In a new study published in the New England Journal of
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Genome sequencing identifies variants possibly linked to childhood asthma – Bizcommunity.com

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Bizcommunity.com
Scientists at the School of Public Health's Center for Perinatal, Pediatric and Environmental Epidemiology used a technique that sequenced only the small fraction of the genome that codes for proteins and identified tens of thousands of variants in

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New Genetic Variants = Treatment for Asthma – Ivanhoe


Fox News

New Genetic Variants = Treatment for Asthma
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(Ivanhoe Newswire)— According to the CDC, the number of people living with asthma in the US Grew by 4.3 million from the years 2001 to 2009. That means 1 in 12 individuals are suffering from this disease and the numbers continue to rise.
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Discovery Of Two Genetic Variants Indicates Potential Of New Asthma Treatment – Medical News Today

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Medical News Today
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Genetic Variants May Help Advance Asthma Treatments – BETTER Health Research


TheMedGuru

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