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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Rare mutations do not explain “missing heritability” in asthma – HealthCanal.com

Rare mutations do not explain "missing heritability" in asthma
HealthCanal.com
Despite a strong suspected link between genetics and asthma, commonly found genetic mutations account for only a small part of the risk for developing the disease — a problem known as missing heritability. Rare and low frequency genetic mutations have …
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Alpha-1, rare genetic disorder, often misdiagnosed as asthma – Naples Daily News


Naples Daily News

Alpha-1, rare genetic disorder, often misdiagnosed as asthma
Naples Daily News
The 66-year-old immigration attorney in Naples has Alpha-1 Antitrypsin Deficiency — Alpha-1 for short — which is often mistaken for asthma or chronic obstructive pulmonary disease. About 100,000 people in the United States have the condition. Wolff

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Rare, potentially deadly ‘Enterovirus’ hits thousands of kids across 10 states – WJLA


WJLA

Rare, potentially deadly 'Enterovirus' hits thousands of kids across 10 states
WJLA
Dr. Christine Nyquist, a pediatrician at Children's Hospital Colorado, said the virus usually ends up appearing similar to a severe cold but can be particularly dangerous for children with asthma because of how it affects the respiratory system. "The
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TheBlaze.com
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Perth people were treated to a rare sight when health advocates flew a hot air … – The West Australian


The West Australian

Perth people were treated to a rare sight when health advocates flew a hot air
The West Australian
Asthma Foundation WA used the clear skies to mark its 50th anniversary and to remind the public of the need for asthma safety in the lead-up to National Asthma Week. AFWA chief executive David Johnson said the foundation was inundated with public …

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Ickey Woods makes rare hometown appearance to raise asthma awareness – Fresno Bee


Fresno Bee

Ickey Woods makes rare hometown appearance to raise asthma awareness
Fresno Bee
His appearance is part of Woods' effort to raise asthma awareness, stressing the importance of finding a cure or better treatment for the disease. In August of 2010, Woods' then 16-year-old son, Jovante, suffered a severe asthma attack and died three

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Dysfunctional breathing in children with asthma: a rare, but relevant comorbidity.

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Dysfunctional breathing in children with asthma: a rare, but relevant comorbidity.

Eur Respir J. 2012 Sep 27;

Authors: de Groot EP, Duiverman EJ, Brand PL

Abstract
Background. Hyperventilation and other clinical manifestations of dysfunctional breathing (DB) have been reported in childhood, the prevalence is unknown. In adults dysfunctional breathing may be a relevant co-morbidity in asthma.Objective. To determine the prevalence of dysfunctional breathing in children with asthma and its impact on asthma control.Methods. Cross-sectional survey in 203 asthmatic children (5-18 yrs), using Nijmegen questionnaire and the paediatric asthma control questionnaire (ACQ).Results. DB was found in 11 children (5.3%), more girls(8/62, 12.9%) than boys (3/144, 2.1%, p=0.002). There was a dose-dependent relationship between increasing Nijmegen questionnaire scores (increased risk of DB) and poorer asthma control. Poor asthma control was more common in patients with DB (10/11 children, 90.9%) than in children without (65/192, 32.3%; odds ratio 19.3, 95% CI 3.14-430.70, p<0.0001). The median ACQ in children with DB was higher (median 2.00 IQR 1.50 to 3.17) than in children without (median 0.50, IQR 0.17 to 1.17; p<0.001)Conclusion. The prevalence of DB in children and adolescents referred to a hospital-based paediatric asthma clinic for severe or difficult to control asthma is 5%. The association between DB and asthma control suggests that this may be a clinically relevant co-morbidity in paediatric asthma.

PMID: 23018913 [PubMed – as supplied by publisher]

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