Dataset Information

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

ABSTRACT: Several genome-wide association studies have been conducted to investigate the influence of genetic polymorphisms in the development of allergic diseases, but few of them have included the X chromosome. The aim of present study was to perform an X chromosome-wide association study (X-WAS) for asthma symptoms. The study included 1307 children of which 294 were asthma cases. DNA was genotyped using 2.5 HumanOmni Beadchip from Illumina. Statistical analyses were performed in PLINK 1.9, MACH 1.0 and Minimac2. The variant rs12007907 (g.29483892C>A) in IL1RAPL gene was suggestively associated with asthma symptoms in discovery set (odds ratio (OR)=0.49, 95% confidence interval (CI): 0.37-0.67; P=3.33 × 10-6). This result was replicated in the ProAr cohort in men only (OR=0.45, 95% CI: 0.21-0.95; P=0.038). Furthermore, investigating the functional role of the rs12007907 on the production a Th2-type cytokine, IL-13, we found a negative association between the minor allele A with IL-13 production in the discovery set (P=0.044). Gene-based analysis revealed that NUDT10 was the most consistently associated with asthma symptoms in discovery sample. In conclusion, the rs12007907 variant in IL1RAPL gene was negatively associated with asthma and IL-13 production in our study and a sex-specific association was observed in one of the validation samples. It suggests an effect on asthma susceptibility and may explain differences in severe asthma frequency between women and men.

SUBMITTER: Marques CR

PROVIDER: S-EPMC5386417 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature

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

Marques Cintia Rodrigues CR Costa Gustavo No GN da Silva Thiago Magalhães TM Oliveira Pablo P Cruz Alvaro A AA Alcantara-Neves Neuza Maria NM Fiaccone Rosemeire L RL Horta Bernardo L BL Hartwig Fernando Pires FP Burchard Esteban G EG Pino-Yanes Maria M Rodrigues Laura C LC Lima-Costa Maria Fernanda MF Pereira Alexandre C AC Gouveia Mateus H MH Sant Anna Hanaisa P HP Tarazona-Santos Eduardo E Lima Barreto Maurício M Figueiredo Camila Alexandrina CA

European journal of human genetics : EJHG 20170125 4

Several genome-wide association studies have been conducted to investigate the influence of genetic polymorphisms in the development of allergic diseases, but few of them have included the X chromosome. The aim of present study was to perform an X chromosome-wide association study (X-WAS) for asthma symptoms. The study included 1307 children of which 294 were asthma cases. DNA was genotyped using 2.5 HumanOmni Beadchip from Illumina. Statistical analyses were performed in PLINK 1.9, MACH 1.0 and ...[more]

PMID: 28120837

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Project description:BackgroundDelhi is one of the most polluted cities in the world with annual average ambient PM10 and PM2.5 levels exceeding the World Health Organization standards by over 15 fold. We aimed to study the prevalence of respiratory and allergic symptoms and asthma among adolescent children living in Delhi (D) and compare it with children living in lesser polluted cities of Kottayam (K) and Mysore (M) located in Southern India.Methods4361 boys and girls between the age group of 13-14 and 16-17 years from 12 randomly selected private schools from D, K, and M were invited to participate. Modified and expanded International Study for Asthma and Allergies in Children (ISAAC) questionnaires (Q) were filled by the students who also performed spirometry using the ultrasonic flow-sensor-based nDD Spirometer.Results3157 students (50.4% boys) completed the Q and performed good quality spirometry. The prevalence of asthma and airflow obstruction among children living in Delhi was 21.7% using the ISAAC Q and 29.4% on spirometry, respectively. This was accompanied by significantly higher rates of self-reported cough, shortness of breath, chest tightness, sneezing, itchy and watery eyes, itchy skin, and eczema among Delhi children (vs. K-M, all P < 0.05). Delhi children were more overweight and obese (39.8% vs. 16.4%, P < 0.0001), and this was the only risk factor that was strongly associated with asthma (odds ratio [OR]: 1.79; confidence interval: 1.49-2.14), with a more pronounced effect in Delhi children (P = 0.04). Forced expiratory volume1 and Forced vital capacity values were significantly higher in Delhi children (vs. K-M P < 0.0001). Preserved ratio impaired spirometry was more common in K-M children (P < 0.0001).ConclusionAdolescent children living in the polluted city of Delhi had a high prevalence of asthma, respiratory symptoms, allergic rhinitis, and eczema that was strongly associated with a high body mass index (BMI). Our study suggests an association between air pollution, high BMI, and asthma/allergic diseases, which needs to be explored further.

Project description:ObjectiveTo assess the association between the physical activity level and the built environment by accessibility, microinfrastructure and security in Latin America (LA).DesignWe conducted a multicentre cross-sectional study to collect physical activity and built environment data. The levels of physical activity were calculated through the International Physical Activity Questionnaire survey. Using the Neighbourhood Environment Walkability Scale-Abbreviated, characteristics of the built environment were measured through three domains: accessibility, microinfrastructure and security. To estimate the association of the built environment and physical activity, we used mixed effects logistic regression analysis. In addition, likelihood ratio test to account for clustered effect within countries and/or cities was used.SettingEight countries in LA.ParticipantsAdults aged 15-65 years (n=9218) living in urban areas and consented to participate of the Latin American Study of Nutrition and Health.ResultsMost of the population in LA had access to a grocery store (97.2%), public transport stop (91.5%) and children's playground (81.6%). Metropolitan parks were more accessible in Ecuador (59.8%) and Colombia (59.2%) than in Venezuela (33.5%). Individuals located within 20 min of walking from sport facilities or children's playground areas were more likely to perform moderate-to-high physical activity OR 1.20 (95% CI 1.06 to 1.36) and OR 1.25 (95% CI 1.02 to 1.53), respectively. Only 14.5% of the population from the region considered that their neighbourhood had an adequate design for walking or cycling. Likewise, among adults living in LA, only 39.75% had the perception of living in a safe neighbourhood.ConclusionsThis multicentre study shows that currently, LA built environment does not promote physical activity in the region. Our findings provide the rationale to push forward, at regional and national levels, policies and interventions that will help to achieve a safe, healthy and friendly built environment to encourage participation in active recreation and sports in leisure time.Trial registration numberNCT02226627.

Dataset Information

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

Publications

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

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