Alpha-1 antitrypsin (AAT) is an acute-phase reactant with immunomodulatory properties that mainly inhibits neutrophil elastase. Low serum levels cause AAT deficiency (AATD), an underdiagnosed condition that predisposes to pulmonary and hepatic diseases. The SERPINA1 gene, which encodes AAT, contains more than 500 variants. PI*Z and PI*S alleles are the most diagnosed causes of AATD, but the role of the SERPINA1 haplotypes in AAT function remains unknown. SERPINA1 gene was PCR amplified from 94 asthma patients, using primers with tails for indexing. Sequencing libraries were loaded into a MinION-Mk1C, and MinKNOW was used for basecalling and demultiplexing. Nanofilt and Minimap2 were used for filtering and mapping/alignment. Variant calling/phasing were performed with PEPPER-Margin-DeepVariant. SERPINA1 gene was 100% covered for all samples, with a minimum sequencing depth of 500X. 75 single nucleotide variants and 4 indels were detected, with 45 and 2 of them highly polymorphic (MAF>0.1), respectively. Nine of the SNVs showed differences in allele frequencies when compared with the overall Spanish population. More than 90% of heterozygous SNVs were phased, yielding 91 and 58 different haplotypes for each SERPINA1 amplified region. Haplotype-based Linkage Disequilibrium (LD) analysis suggests that a recombination hotspot could generate variation in the SERPINA1 gene. The proposed workflow enables haplotype-aware genotyping of the SERPINA1 gene by nanopore sequencing, which will allow the development of novel AATD diagnostic strategies.

The Canary Islands, a region with high asthma prevalence, are frequently exposed to Saharan Dust Intrusions (SDIs), as are a wide range of countries in Europe. Alpha-1 antitrypsin (SERPINA1 gene) regulates the airway’s inflammatory response. This study analyzed the combined effect of SDI exposure and SERPINA1 variants on bacterial/fungal DNA concentrations in saliva and pharyngeal samples from asthmatic patients. Bacterial and fungal DNAs were quantified by qPCR in 211 asthmatic patients (GEMAS study), grouped based on their exposure to daily PM₁₀ concentrations. Associations between SDI exposure, microbial DNA concentrations, and nine variants in SERPINA1 were tested using linear regression models adjusted for confounders. The ratio between bacterial and fungal DNA was similar in saliva and pharyngeal samples. SDI exposure for 1–3 days was enough to observe significant microbial DNA change. Increased bacterial DNA concentration was detected when SDI exposure occurred 4–10 days prior to sampling, while exposure between days 1 and 3 led to a reduction in the fungal DNA concentration. The T-allele of SERPINA1 SNV rs2854254 prevented the increase in the bacterial/fungal DNA ratio in pharyngeal samples after SDI exposure. The bacterial/fungal DNA ratio represents a potential tool to monitor changes in the microbiome of asthmatic patients.

Alpha‐1 antitrypsin deficiency (AATD) is a genetic disorder caused by specific variants in the SERPINA1 gene, which encodes AAT. The most common disease‐associated SERPINA1 variants are Pi ∗ S and Pi ∗ Z alleles, which cause moderate and severe AATD, respectively. Recent studies have reported the presence of a possible regulator of SERPINA gene cluster expression (LOC126862032), which is suggested to act as a BRD4‐Independent Enhancer (SERPINA‐BIE). This study is aimed at characterizing the SERPINA‐BIE locus and assessing possible associations with SERPINA1 AATD‐related alleles. For this purpose, SERPINA‐BIE was PCR genotyped from 917 samples, including 452 asthmatic patients, and 465 newborns. Nine SERPINA‐BIE alleles were sequenced, revealing a specific combination of 56‐bp sequence types, and each SERPINA‐BIE allele has a unique total number of CpG sites. Statistical analyses revealed an association between the Pi ∗ Z allele of the SERPINA1 gene and the SERPINA‐BIE allele 13 (p value = 5.51 × 10⁻¹⁰), as well as between Pi ∗ S and SERPINA‐BIE allele 14 (p value = 8.95 × 10⁻¹⁵). However, AAT levels were not associated with SERPINA‐BIE alleles when models were corrected by SERPINA1 genotypes. This study could contribute to a better understanding of the regulation of the SERPINA1 gene expression, and its role in AATD.

Avocado (Persea americana Mill.) is cultivated in a wide range of environments, from tropical and semitropical to subtropical regions. Its fruit, of high nutritional value, is increasingly demanded worldwide. Spain is the main European producer, but avocado cultivation in certain areas, such as the Canary Islands, requires the genetic identification of West-Indian rootstocks because they often show tolerance to low-quality water and soil salinization. In the present study, eight novel Retrotransposon-Based Insertion Polymorphism assays, derived from previously characterized inter-Primer Binding Site markers, have been developed and evaluated by multiplex PCR across 58 P. americana cultivars. The results showed 100% specificity and sensitivity in detecting the West-Indian genomic component, both in pure and hybrid avocado cultivars. This cost-effective and fast molecular tool provides a valuable resource for characterization and selection programs of avocado cultivars genetically related to the West-Indian horticultural race.

Background: Saharan dust intrusions (SDIs) are associated with poor air quality and adverse respiratory outcomes. However, their impact on real-world inhaler utilization remains insufficiently characterized. We aimed to examine the association between SDI and the dispensing of short-acting beta-agonists (SABA) and inhaled corticosteroid–long-acting beta-agonist (ICS–LABA) combinations in the Canary Islands, Spain. Methods: Pharmaceutical sales data for SABA and ICS–LABA were collected from 60 pharmacies in Santa Cruz de Tenerife (TF) and Las Palmas de Gran Canaria (GC) between June 2017 and May 2022. SDI days were identified based on daily PM₁₀ concentrations > 40 µg/m³ from the regional air quality monitoring network. Linear regression models evaluated associations between drug dispensations and SDI presence, frequency, and intensity, adjusting for seasonality (winter vs. summer). Results: Over 60 months, SABA sales were 14.8% lower in TF compared with GC, while ICS–LABA sales were 10.9% higher. SDI presence was associated with significantly higher ICS–LABA dispensations in both provinces (+5.7% in TF, +10.2% in GC), whereas no association was found for SABA. ICS–LABA sales correlated weakly but significantly with both SDI frequency and PM₁₀ levels. Seasonal analysis revealed stronger effects in winter, with ICS–LABA dispensations increasing by 14.3% (TF) and 9.6% (GC) during SDI months. For SABA, seasonal differences were independent of SDI exposure. Conclusions: SDIs in the Canary Islands are independently associated with increased dispensing of ICS–LABA maintenance therapy, particularly during winter months. Dispensing data offer a valuable population-level indicator of respiratory impact from natural airborne pollution and support the integration of environmental alerts into preventive respiratory care strategies.

Background: Saharan dust intrusions (SDI) are associated with poor air quality and adverse respiratory outcomes. However, their impact on real-world inhaler utilization remains insufficiently characterized. We aimed to examine the association between SDI and the dispensing of short-acting beta-agonists (SABA) and inhaled corticosteroid–long-acting beta-agonist (ICS–LABA) combinations in the Canary Islands, Spain. Methods: Pharmaceutical sales data for SABA and ICS–LABA were collected from 60 pharmacies in Santa Cruz de Tenerife (TF) and Las Palmas de Gran Canaria (GC) between June 2017 and May 2022. SDI days were identified based on daily PM₁₀ concentrations >40 µg/m³ from the regional air quality monitoring network. Linear regression models evaluated associations between drug dispensations and SDI presence, frequency, and intensity, adjusting for seasonality (winter vs summer). Results: Over 60 months, SABA sales were 14.8% lower in TF compared with GC, while ICS–LABA sales were 10.9% higher. SDI presence was associated with significantly higher ICS–LABA dispensations in both provinces (+5.7% in TF, +10.2% in GC), whereas no association was found for SABA. ICS–LABA sales correlated weakly but significantly with both SDI frequency and PM₁₀ levels. Seasonal analysis revealed stronger effects in winter, with ICS–LABA dispensa-tions increasing by 14.3% (TF) and 9.6% (GC) during SDI months. For SABA, seasonal differences were independent of SDI exposure. Conclusions: SDI in the Canary Islands are independently associated with increased dispensing of ICS–LABA maintenance therapy, particularly during winter months. Dispensing data offer a valuable population-level indicator of respiratory impact from natural airborne pollution and support the integration of environmental alerts into preventive respiratory care strategies.