Publications by authors named "Hernandez-Pacheco N"

Article Synopsis
  • Chronic obstructive pulmonary disease (COPD) can be influenced by genetic factors and may stem from reduced lung growth during childhood, leading to lower lung function throughout life.
  • A polygenic risk score (PRS) was calculated using data from a large genome-wide association study and tested for its correlation with lung function in individuals aged 4-50 from multiple research cohorts.
  • Results indicated that higher PRS scores were associated with significantly lower lung function, measured by key indicators, starting from childhood and continuing into adulthood, regardless of smoking, sex, or asthma diagnosis.
View Article and Find Full Text PDF

Background: Both depression and respiratory disease are common today in young populations. However, little is known about the relationship between them.

Aims: This study aims to explore the association between depression in childhood to early adulthood and respiratory health outcomes in early adulthood, and the potential underlying mechanisms.

View Article and Find Full Text PDF

Background: Numerous studies have investigated links between body mass index (BMI) trajectories and cardiovascular risk, yet discrepancies in BMI measurement duration and timing of the cardiovascular-related outcome evaluation have led to inconsistent findings.

Methods: We included participants from the Swedish birth cohort (BAMSE) and applied latent class mixture modeling to identify BMI trajectories using data of multiple BMI measures (≥ 4 times) from birth until 24-year follow-up (n = 3204). Subsequently, we analyzed the associations of BMI trajectories with lipids (n = 1974), blood pressure (n = 2022), HbA1c (n = 941), and blood leukocytes (n = 1973) using linear regression.

View Article and Find Full Text PDF

Background: Few studies have investigated the influence of body mass index (BMI) trajectories on lung function covering the entire growth period.

Methods: We conducted a prospective study using data from the Swedish BAMSE birth cohort. Latent class mixture modelling was employed to examine the diversity in BMI z-scores from birth to 24 years of age.

View Article and Find Full Text PDF

Asthma is a heterogeneous respiratory disease that represents a substantial social and economic burden [...

View Article and Find Full Text PDF

Background: Obese asthma is a complex phenotype and further characterization of the pathophysiology is needed. This study aimed to explore inflammation-related plasma biomarkers in lean and overweight/obese asthmatics.

Methods: We elucidated levels of inflammation-related plasma proteins in obese asthma phenotypes in the population-based cohort BAMSE (Swedish: Children, Allergy, Milieu, Stockholm, Epidemiology) using data from 2069 24-26-year-olds.

View Article and Find Full Text PDF

Background: Few biomarkers identify eosinophilic and neutrophilic asthma beyond cell concentrations in blood or sputum. Finding novel biomarkers for asthma endotypes could give insight about disease mechanisms and guide tailored treatment. Our aim was to investigate clinical characteristics and inflammation-related plasma proteins in relation to blood eosinophil and neutrophil concentrations in subjects with and without asthma.

View Article and Find Full Text PDF
Article Synopsis
  • Asthma exacerbations are a major public health issue linked to increased healthcare costs, productivity losses, and quality of life impacts; this study examines the genetic factors contributing to these exacerbations across different ancestries.
  • A large-scale meta-GWAS involving nearly 12,000 participants from diverse backgrounds identified 126 potential genetic variants associated with asthma exacerbations, with two variants successfully replicated in further analyses.
  • The identified variants are involved in regulating gene expression and DNA methylation, highlighting new potential genetic mechanisms that might influence asthma severity and management.
View Article and Find Full Text PDF

Investigation of gene-environment interactions (GxE) may provide important insights into the gene regulatory framework in response to environmental factors of relevance for childhood asthma. Over the years, different methodological strategies have been applied, more recently using genome-wide approaches. The best example to date is the major asthma locus on the 17q12-21 chromosome region, viral infections, and airway epithelium processes where recent studies have shed much light on mechanisms in childhood asthma.

View Article and Find Full Text PDF

Background: Inhaled corticosteroid (ICS) response among patients with asthma is influenced by genetics, but biologically actionable insights based on associations have not been found. Various glucocorticoid response omics data sets are available to interrogate their biological effects.

Objective: We sought to identify functionally relevant ICS-response genetic associations by integrating complementary multiomics data sets.

View Article and Find Full Text PDF

Leukotrienes play a central pathophysiological role in both paediatric and adult asthma. However, 35% to 78% of asthmatics do not respond to leukotriene inhibitors. In this study we tested the role of the LTA4H regulatory variant rs2660845 and age of asthma onset in response to montelukast in ethnically diverse populations.

View Article and Find Full Text PDF

Inhaled corticosteroids (ICS) are the most common asthma controller medication. An important contribution of genetic factors in ICS response has been evidenced. Here, we aimed to identify novel genetic markers involved in ICS response in asthma.

View Article and Find Full Text PDF

Background: The polymorphism Arg16 in β -adrenergic receptor (ADRB2) gene has been associated with an increased risk of exacerbations in asthmatic children treated with long-acting β -agonists (LABA). However, it remains unclear whether this increased risk is mainly attributed to this single variant or the combined effect of the haplotypes of polymorphisms at codons 16 and 27.

Objective: We assessed whether the haplotype analysis could explain the association between the polymorphisms at codons 16 (Arg16Gly) and 27 (Gln27Glu) in ADRB2 and risk of asthma exacerbations in patients treated with inhaled corticosteroids (ICS) plus LABA.

View Article and Find Full Text PDF
Article Synopsis
  • A study was conducted to explore how genetic factors might contribute to asthma exacerbations in children using long-acting beta2-agonists (LABA), but no significant genetic effects were found on these exacerbations.
  • Researchers conducted a meta-analysis involving 1,425 children and young adults, focusing on exacerbation incidents related to LABA treatment over the past 6 or 12 months.
  • They identified two specific genetic loci (TBX3 and EPHA7) related to asthma medication response, suggesting further research is needed on their role in LABA and short-acting beta2-agonist (SABA) use.
View Article and Find Full Text PDF
Article Synopsis
  • Researchers identified genetic factors that may explain why some individuals, especially European children and young adults, experience asthma exacerbations despite using inhaled corticosteroids (ICS).
  • A genome-wide association study (GWAS) was conducted with over 2,600 European participants, finding 10 genetic variants linked to these exacerbations, though not all were validated in other populations.
  • The study suggests that certain genes may influence how asthma responds to treatment, indicating that drugs like trichostatin A might offer new therapeutic strategies.
View Article and Find Full Text PDF

A systematic review of pharmacogenomic studies capturing adverse drug reactions (ADRs) related to asthma medications was undertaken, and a survey of Pharmacogenomics in Childhood Asthma (PiCA) consortia members was conducted. Studies were eligible if genetic polymorphisms were compared with suspected ADR(s) in a patient with asthma, as either a primary or secondary outcome. Five studies met the inclusion criteria.

View Article and Find Full Text PDF

Several studies have shown that the airways of asthma patients contain higher diversity of bacteria and are enriched in pathogenic species. However, sampling the airways in children is challenging. Here we aimed to identify differences in the salivary bacterial composition between African Americans children with and without asthma.

View Article and Find Full Text PDF

Background: Association studies in recently admixed populations are extremely useful to identify the genetic architecture of pigmentation, due to their high genotypic and phenotypic variation. However, to date only four Genome-Wide Association Studies (GWAS) have been carried out in these populations.

Results: We present a GWAS of skin pigmentation in an admixed sample from Cuba (N = 762).

View Article and Find Full Text PDF

Asthma is a complex respiratory disease considered as the most common chronic condition in children. A large genetic contribution to asthma susceptibility is predicted by the clustering of asthma and allergy symptoms among relatives and the large disease heritability estimated from twin studies, ranging from 55 to 90%. Genetic basis of asthma has been extensively investigated in the past 40 years using linkage analysis and candidate-gene association studies.

View Article and Find Full Text PDF

Background: Inhaled corticosteroids (ICS) are the most widely prescribed and effective medication to control asthma symptoms and exacerbations. However, many children still have asthma exacerbations despite treatment, particularly in admixed populations, such as Puerto Ricans and African Americans. A few genome-wide association studies (GWAS) have been performed in European and Asian populations, and they have demonstrated the importance of the genetic component in ICS response.

View Article and Find Full Text PDF

Background: Although inhaled corticosteroid (ICS) medication is considered the cornerstone treatment for patients with persistent asthma, few ICS pharmacogenomic studies have involved nonwhite populations.

Objective: We sought to identify genetic predictors of ICS response in multiple population groups with asthma.

Methods: The discovery group comprised African American participants from the Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-Ethnicity (SAPPHIRE) who underwent 6 weeks of monitored ICS therapy (n = 244).

View Article and Find Full Text PDF