Suggestive association between variants in IL1RAPL and asthma symptoms in Latin American children

Marques, Caroline; Costa, Gustavo; Silva, Thiago Magalhães da; Oliveira, Pablo Rafael Silveira; Cruz, Álvaro Augusto; Alcantara-Neves, Neuza Maria; Fiaccone, Rosemeire Leovigildo; Horta, Bernardo Lessa; Hartwig, Fernando Pires; Burchard, Esteban G.; Pino-Yanes, María; Rodrigues, Laura C.; Lima‐Costa, Maria Fernanda; Pereira, Alexandre C.; Gouveia, Mateus H.; Anna, Hanaisa P. Sant; Tarazona‐Santos, Eduardo; Barreto, Maurício Lima; Figueiredo, Camila A.

doi:10.1038/ejhg.2016.197

Cited by 15 publications

(14 citation statements)

References 52 publications

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“…Previous studies have identified genetic, environmental, behavioral, and socioeconomic factors associated with the development of allergic diseases in childhood, likely to reflect complex interactions between genes and environmental exposures [38], [39,40]. Genetic studies have identified polymorphisms associated with both atopic and non-atopic asthma [27,41,42], highlighting the importance of family history as a risk factor. Bjerg.…”

Section: Plos Onementioning

confidence: 99%

“…Yang and colleagues [40] identified 81 regions on the genome that were differentially methylated in asthmatic children aged between 6 and 12 years. Further studies to identify polymorphisms and epigenetic alterations associated with allergic diseases, as well as variants in genes associated with reduced pharmacologic response, are required for a better understanding of asthma and its treatment among Andean children with asthma [41,[46][47][48][49].…”

Section: Plos Onementioning

confidence: 99%

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Prevalence and risk factors for asthma, rhinitis, eczema, and atopy among preschool children in an Andean city

et al. 2020

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Background Limited data are available on prevalence and associated risk factors for atopy and allergic diseases from high-altitude urban settings in Latin America. Objective To estimate the prevalence of atopy, asthma, rhinitis, and eczema, and associations with relevant risk factors in preschool children in the Andean city of Cuenca. Methods A cross-sectional study was undertaken using a representative sample of 535 children aged 3-5 years attending 30 nursery schools in the city of Cuenca, Ecuador. Data on allergic diseases and risk factors were collected by parental questionnaire. Atopy was measured by skin prick test (SPT) reactivity to a panel of relevant aeroallergens. Associations between risk factors and the prevalence of atopy and allergic diseases were estimated using multivariable logistic regression. Results Asthma symptoms were reported for 18% of children, rhinitis for 48%, and eczema for 28%, while SPT reactivity was present in 33%. Population fractions of asthma, rhinitis, and eczema attributable to SPT were 3.4%, 7.9%, and 2.9%, respectively. In multivariable models, an increased risk of asthma was observed among children with a maternal history of rhinitis (OR 1.85); rhinitis was significantly increased in children of high compared to low socioeconomic level (OR 2.09), among children with a maternal history of rhinitis (OR 2.29) or paternal history of eczema (OR 2.07), but reduced among children attending daycare

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Section: Plos Onementioning

confidence: 99%

Section: Plos Onementioning

confidence: 99%

Prevalence and risk factors for asthma, rhinitis, eczema, and atopy among preschool children in an Andean city

et al. 2020

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“…Eight GWAS evaluated the association with asthma (33, 35, 37, 38, 42–44, 46) (Supplementary Table 1), although only four studies revealed genome-wide significant associations (38, 43, 44, 46). These validated the association of 14 loci previously associated with asthma susceptibility (Table 1).…”

Section: Genome-wide Association Studiesmentioning

confidence: 99%

“…In fact, it has been proposed that PRS estimation could facilitate the development of accurate preventive, diagnostic and therapeutic strategies (223, 227, 236). Moreover, given the previous evidence of genetic overlap among different diseases (35, 45, 49, 103, 227, 237), an evaluation of individual risks could be assessed simultaneously for multiple traits at a time. This would potentiate the implementation of common therapeutic strategies for different diseases (227, 236).…”

Section: Asthma Prediction and Translation Into The Clinicmentioning

confidence: 99%

Genomic Predictors of Asthma Phenotypes and Treatment Response

2019

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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. However, the development of dense arrays for polymorphism genotyping has enabled the transition toward genome-wide association studies (GWAS), which have led the discovery of several unanticipated asthma genes in the last 11 years. Despite this, currently known risk variants identified using many thousand samples from distinct ethnicities only explain a small proportion of asthma heritability. This review examines the main findings of the last 2 years in genomic studies of asthma using GWAS and admixture mapping studies, as well as the direction of studies fostering integrative perspectives involving omics data. Additionally, we discuss the need for assessing the whole spectrum of genetic variation in association studies of asthma susceptibility, severity, and treatment response in order to further improve our knowledge of asthma genes and predictive biomarkers. Leveraging the individual's genetic information will allow a better understanding of asthma pathogenesis and will facilitate the transition toward a more precise diagnosis and treatment.

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“…Much more compelling is the need for a more global distribution of research groups with a strong background in genomics and bioinformatics, leading and performing this kind of study. In this context, the overarching goal of the EPIGEN-Brazil Initiative is to study the genomic diversity and its effects on complex phenotypes in Brazil, the most populous Latin American country (Borges et al 2016;Lima-Costa et al 2016;Marques et al 2017). Brazil's more than 200 million inhabitants are the product of admixture that occurred during the last 500 years between Amerindians, Europeans, Africans, and their descendants.…”

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confidence: 99%

EPIGEN-Brazil Initiative resources: a Latin American imputation panel and the Scientific Workflow

et al. 2018

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EPIGEN-Brazil is one of the largest Latin American initiatives at the interface of human genomics, public health, and computational biology. Here, we present two resources to address two challenges to the global dissemination of precision medicine and the development of the bioinformatics know-how to support it. To address the underrepresentation of non-European individuals in human genome diversity studies, we present the EPIGEN-5M+1KGP imputation panel-the fusion of the public 1000 Genomes Project (1KGP) Phase 3 imputation panel with haplotypes derived from the EPIGEN-5M data set (a product of the genotyping of 4.3 million SNPs in 265 admixed individuals from the EPIGEN-Brazil Initiative). When we imputed a target SNPs data set (6487 admixed individuals genotyped for 2.2 million SNPs from the EPIGEN-Brazil project) with the EPIGEN-5M+1KGP panel, we gained 140,452 more SNPs in total than when using the 1KGP Phase 3 panel alone and 788,873 additional high confidence SNPs ( ≥ 0.8). Thus, the major effect of the inclusion of the EPIGEN-5M data set in this new imputation panel is not only to gain more SNPs but also to improve the quality of imputation. To address the lack of transparency and reproducibility of bioinformatics protocols, we present a conceptual Scientific Workflow in the form of a website that models the scientific process (by including publications, flowcharts, masterscripts, documents, and bioinformatics protocols), making it accessible and interactive. Its applicability is shown in the context of the development of our EPIGEN-5M+1KGP imputation panel. The Scientific Workflow also serves as a repository of bioinformatics resources.

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Suggestive association between variants in IL1RAPL and asthma symptoms in Latin American children

Cited by 15 publications

References 52 publications

Prevalence and risk factors for asthma, rhinitis, eczema, and atopy among preschool children in an Andean city

Prevalence and risk factors for asthma, rhinitis, eczema, and atopy among preschool children in an Andean city

Genomic Predictors of Asthma Phenotypes and Treatment Response

EPIGEN-Brazil Initiative resources: a Latin American imputation panel and the Scientific Workflow

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