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Association of alpha globin gene copy number with exhaled nitric oxide in a cross-sectional study of healthy Black adults

التفاصيل البيبلوغرافية
العنوان: Association of alpha globin gene copy number with exhaled nitric oxide in a cross-sectional study of healthy Black adults
المؤلفون: Michael P Fay, Loretta G Que, A Parker Ruhl, Jarrett M Jackson, Carlos J Carhuas, Jessica G Niño de Rivera, J Brice Weinberg, Hans C Ackerman
المصدر: BMJ Open Respiratory Research, Vol 10, Iss 1 (2023)
بيانات النشر: BMJ Publishing Group, 2023.
سنة النشر: 2023
المجموعة: LCC:Medicine
LCC:Diseases of the respiratory system
مصطلحات موضوعية: Medicine, Diseases of the respiratory system, RC705-779
الوصف: Introduction The genetic determinants of fractional exhalation of nitric oxide (FeNO), a marker of lung inflammation, are understudied in Black individuals. Alpha globin (HBA) restricts nitric oxide signalling in arterial endothelial cells via interactions with nitric oxide synthase; however, its role in regulating the release of NO from respiratory epithelium is less well understood. We hypothesised that an HBA gene deletion, common among Black individuals, would be associated with higher FeNO.Methods Healthy Black adults were enrolled at four study sites in North Carolina from 2005 to 2008. FeNO was measured in triplicate using a nitric oxide analyzer. The −3.7 kb HBA gene deletion was genotyped using droplet digital PCR on genomic DNA. The association of FeNO with HBA copy number was evaluated using multivariable linear regression employing a linear effect of HBA copy number and adjusting for age, sex and serum immunoglobulin-E levels. Post-hoc analysis employing a recessive mode of inheritance was performed.Results 895 individuals were in enrolled in the study and 720 consented for future genetic research; 643 had complete data and were included in this analysis. Median (25th, 75th) FeNO was 20 (13, 31) ppb. HBA genotypes were: 30 (4.7%) -a/-a, 197 (30.6%) -a/aa, 405 (63%) aa/aa and 8 (1.2%) aa/aaa. Subjects were 35% male with median age 20 (19, 22) years. Multivariable linear regression analysis revealed no association between FeNO and HBA copy number (β=−0.005 (95% CI −0.042 to 0.033), p=0.81). In the post-hoc sensitivity analysis, homozygosity for the HBA gene deletion was associated with higher FeNO (β=0.107 (95% CI 0.003 to 0.212); p=0.045).Conclusion We found no association between HBA copy number and FeNO using a prespecified additive genetic model. However, a post hoc recessive genetic model found FeNO to be higher among subjects homozygous for the HBA deletion.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2052-4439
Relation: https://bmjopenrespres.bmj.com/content/10/1/e001714.full; https://doaj.org/toc/2052-4439
DOI: 10.1136/bmjresp-2023-001714
URL الوصول: https://doaj.org/article/8c05ecbd115f487b933fa161e0acf5e1
رقم الأكسشن: edsdoj.8c05ecbd115f487b933fa161e0acf5e1
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:20524439
DOI:10.1136/bmjresp-2023-001714