Blame LABA Risks in Asthma on Gene Variants? – MedPage Today


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 
LABA Drugs for Asthma May Negatively Impact People With Rare Genetic Science World Report
Rare Genetic Variations May Account For Severe Reaction To LABA Drugs In RedOrbit

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Gene mutations in primary ciliary dyskinesia related to otitis media.

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Gene mutations in primary ciliary dyskinesia related to otitis media.

Curr Allergy Asthma Rep. 2014 Mar;14(3):420

Authors: Mata M, Milian L, Armengot M, Carda C

Abstract
Otitis media with effusion (OME) is the most common cause of conductive hearing loss in children and is strongly associated with primary ciliary dyskinesia (PCD). Approximately half of the children with PCD require otolaryngology care, posing a major problem in this population. Early diagnosis of PCD is critical in these patients to minimise the collateral damage related to OME. The current gold standard for PCD diagnosis requires determining ciliary structure defects by transmission electron microscopy (TEM) or clearly documenting ciliary dysfunction via digital high-speed video microscopy (DHSV). Although both techniques are useful for PCD diagnosis, they have limitations and need to be supported by new methodologies, including genetic analysis of genes related to PCD. In this article, we review classical and recently associated mutations related to ciliary alterations leading to PCD, which can be useful for early diagnosis of the disease and subsequent early management of OME.

PMID: 24459089 [PubMed – in process]

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A Single-Nucleotide Polymorphism of Human Neuropeptide S Gene Originated from Europe Shows Decreased Bioactivity.

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A Single-Nucleotide Polymorphism of Human Neuropeptide S Gene Originated from Europe Shows Decreased Bioactivity.

PLoS One. 2013;8(12):e83009

Authors: Deng C, He X, Hsueh AJ

Abstract
Using accumulating SNP (Single-Nucleotide Polymorphism) data, we performed a genome-wide search for polypeptide hormone ligands showing changes in the mature regions to elucidate genotype/phenotype diversity among various human populations. Neuropeptide S (NPS), a brain peptide hormone highly conserved in vertebrates, has diverse physiological effects on anxiety, fear, hyperactivity, food intake, and sleeping time through its cognate receptor-NPSR. Here, we report a SNP rs4751440 (L(6)-NPS) causing non-synonymous substitution on the 6(th) position (V to L) of the NPS mature peptide region. L(6)-NPS has a higher allele frequency in Europeans than other populations and probably originated from European ancestors ?25,000 yrs ago based on haplotype analysis and Approximate Bayesian Computation. Functional analyses indicate that L(6)-NPS exhibits a significant lower bioactivity than the wild type NPS, with ?20-fold higher EC50 values in the stimulation of NPSR. Additional evolutionary and mutagenesis studies further demonstrate the importance of the valine residue in the 6(th) position for NPS functions. Given the known physiological roles of NPS receptor in inflammatory bowel diseases, asthma pathogenesis, macrophage immune responses, and brain functions, our study provides the basis to elucidate NPS evolution and signaling diversity among human populations.

PMID: 24386135 [PubMed – as supplied by publisher]

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A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk.

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A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk.

Genes Immun. 2013 Aug 15;

Authors: Revez JA, Bain L, Chapman B, Powell JE, Jansen R, Duffy DL, Tung JY, AAGC Collaborators, Matheson MC, Marks GB, Hui J, Le Souëf P, Danoy P, Baltic S, Nyholt DR, Jenkins M, Hayden C, Beilby J, Cheah F, Madden PA, Heath AC, Hopper JL, Musk B, Leeder SR, Walters EH, James A, Jones G, Abramson MJ, Robertson CF, Dharmage SC, Brown MA, Thompson PJ, Penninx BW, Visscher PM, De Geus EJ, Boomsma DI, Hinds DA, Martin NG, Montgomery GW, Ferreira MA

Abstract
The main genetic determinant of soluble interleukin 6 receptor (sIL-6R) levels is the missense variant rs2228145 that maps to the cleavage site of IL-6R. For each Ala allele, sIL-6R serum levels increase by ?20?ng?ml(-1) and asthma risk by 1.09-fold. However, this variant does not explain the total heritability for sIL-6R levels. Additional independent variants in IL6R may therefore contribute to variation in sIL-6R levels and influence asthma risk. We imputed 471 variants in IL6R and tested these for association with sIL-6R serum levels in 360 individuals. An intronic variant (rs12083537) was associated with sIL-6R levels independently of rs4129267 (P=0.0005), a proxy single-nucleotide polymorphism for rs2228145. A significant and consistent association for rs12083537 was observed in a replication panel of 354 individuals (P=0.033). Each rs12083537:A allele increased sIL-6R serum levels by 2.4?ng?ml(-1). Analysis of mRNA levels in two cohorts did not identify significant associations between rs12083537 and IL6R transcription levels. On the other hand, results from 16?705 asthmatics and 30?809 controls showed that the rs12083537:A allele increased asthma risk by 1.04-fold (P=0.0419). Genetic risk scores based on IL6R regulatory variants may prove useful in explaining variation in clinical response to tocilizumab, an anti-IL-6R monoclonal antibody.Genes and Immunity advance online publication, 15 August 2013; doi:10.1038/gene.2013.38.

PMID: 23945879 [PubMed – as supplied by publisher]

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Gene clues show which children will grow out of asthma – FRANCE 24


Counsel & Heal

Gene clues show which children will grow out of asthma
FRANCE 24
Roughly half of children with asthma will emerge from it by the time they become young adults — but until now, no-one knows how to determine who will be the lucky ones. The new research, published in The Lancet Respiratory Medicine Journal, marks a
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