Imperial College London
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DrCosettaMinelli

Faculty of Medicine, National Heart & Lung Institute

Emeritus Reader in Medical Statistics
 
 
 
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Contact

 

cosetta.minelli1 Website

 
 
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Location

 

G 49Emmanuel Kaye BuildingRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Accordini:2024:1752-7163/acfbf1,
author = {Accordini, S and Lando, V and Calciano, L and Bombieri, C and Malerba, G and Margagliotti, A and Minelli, C and Potts, J and van, der Plaat DA and Olivieri, M},
doi = {1752-7163/acfbf1},
journal = {Journal of Breath Research: volatiles for medical diagnosis},
title = {SNPs in FAM13A and IL2RB genes are associated with FeNO in adult subjects with asthma},
url = {http://dx.doi.org/10.1088/1752-7163/acfbf1},
volume = {18},
year = {2024}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Nitric oxide has different roles in asthma as both an endogenous modulator of airway function and a pro-inflammatory mediator. Fractional exhaled nitric oxide (FeNO) is a reliable, quantitative, non-invasive, simple, and safe biomarker for assessing airways inflammation in asthma. Previous genome-wide and genetic association studies have shown that different genes and single nucleotide polymorphisms (SNPs) are linked to FeNO. We aimed at identifying SNPs in candidate genes or gene regions that are associated with FeNO in asthma. We evaluated 264 asthma cases (median age 42.8 years, female 47.7%) who had been identified in the general adult population within the Gene Environment Interactions in Respiratory Diseases survey in Verona (Italy; 2008–2010). Two hundred and twenty-one tag-SNPs, which are representative of 50 candidate genes, were genotyped by a custom GoldenGate Genotyping Assay. A two-step association analysis was performed without assuming an a priori genetic model: step (1) a machine learning technique [gradient boosting machine (GBM)] was used to select the 15 SNPs with the highest variable importance measure; step (2) the GBM-selected SNPs were jointly tested in a linear regression model with natural log-transformed FeNO as the normally distributed outcome and with age, sex, and the SNPs as covariates. We replicated our results within an independent sample of 296 patients from the European Community Respiratory Health Survey III. We found that SNP rs987314 in family with sequence similarity 13 member A (FAM13A) and SNP rs3218258 in interleukin 2 receptor subunit beta (IL2RB) gene regions are significantly associated with FeNO in adult subjects with asthma. These genes are involved in different mechanisms that affect smooth muscle constriction and endothelial barrier function responses (FAM13A), or in immune response processes (IL2RB). Our findings contribute to the current knowledge on FeNO in asthma by identifying two novel SNPs associated with
AU  - Accordini,S
AU  - Lando,V
AU  - Calciano,L
AU  - Bombieri,C
AU  - Malerba,G
AU  - Margagliotti,A
AU  - Minelli,C
AU  - Potts,J
AU  - van,der Plaat DA
AU  - Olivieri,M
DO  - 1752-7163/acfbf1
PY  - 2024///
SN  - 1752-7155
TI  - SNPs in FAM13A and IL2RB genes are associated with FeNO in adult subjects with asthma
T2  - Journal of Breath Research: volatiles for medical diagnosis
UR  - http://dx.doi.org/10.1088/1752-7163/acfbf1
UR  - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:001081893100001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=a2bf6146997ec60c407a63945d4e92bb
UR  - https://iopscience.iop.org/article/10.1088/1752-7163/acfbf1
UR  - http://hdl.handle.net/10044/1/108062
VL  - 18
ER  -
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