X chromosome genetic data in a Spanish children cohort, dataset description and analysis pipeline

Anguita‐Ruiz, Augusto; Plaza‐Díaz, Julio; Ruiz‐Ojeda, Francisco Javier; Rupérez, Azahara I.; Leis, Rosaura; Bueno, Gloria; Gil-Campos, Mercedes; Vázquez-Cobela, Rocío; Cañete, Ramón; Moreno, Luís A.; Gil, Ángel; Aguilera, Concepción M.

doi:10.1038/s41597-019-0109-3

Cited by 6 publications

(12 citation statements)

References 38 publications

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“…After that, we decide to characterize the asthmatic cohort with respect to non-asthmatic children, using a well-known cohort [ 22 ]. The clinical, biochemical, and inflammatory biomarkers in the BIOASMA cohort compared to the control population are summarized in Table 3 .…”

Section: Resultsmentioning

confidence: 99%

“…A total of 104 non-asthmatic children (30 normal-weight, 18 overweight, and 56 obese children) recruited in the Hospital Reina Sofia of Cordoba, described elsewhere [22] were used as a control group to determine the main basal biochemical and anthropometric differences between allergic asthmatic and non-asthmatic children.…”

Section: Study Design and Subjectsmentioning

confidence: 99%

“…The clinical characteristics of the allergic asthmatic children (the BIOASMA cohort) are shown in Table 1, whereas in Table 2, we show the plasma inflammatory biomarker concentrations in the same cohort. After that, we decide to characterize the asthmatic cohort with respect to non-asthmatic children, using a well-known cohort [22]. The clinical, biochemical, and inflammatory biomarkers in the BIOASMA cohort compared to the control population are summarized in Table 3.…”

Section: General Characteristics Of the Participantsmentioning

confidence: 99%

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A Multi-Omics Approach Reveals New Signatures in Obese Allergic Asthmatic Children

et al. 2020

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Background: Asthma is a multifactorial condition where patients with identical clinical diagnoses do not have the same clinical history or respond to treatment. This clinical heterogeneity is reflected in the definition of two main endotypes. We aimed to explore the metabolic and microbiota signatures that characterize the clinical allergic asthma phenotype in obese children. Methods: We used a multi-omics approach combining clinical data, plasma and fecal inflammatory biomarkers, metagenomics, and metabolomics data in a cohort of allergic asthmatic children. Results: We observed that the obese allergic asthmatic phenotype was markedly associated with higher levels of leptin and lower relative proportions of plasma acetate and a member from the Clostridiales order. Moreover, allergic children with a worse asthma outcome showed higher levels of large unstained cells, fecal D lactate and D/L lactate ratio, and with a higher relative proportion of plasma creatinine and an unclassified family member from the RF39 order belonging to the Mollicutes class. Otherwise, children with persistent asthma presented lower levels of plasma citrate and dimethylsulfone. Conclusion: Our integrative approach shows the molecular heterogeneity of the allergic asthma phenotype while highlighting the use of omics technologies to examine the clinical phenotype at a more holistic level.

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Section: Resultsmentioning

confidence: 99%

Section: Study Design and Subjectsmentioning

confidence: 99%

Section: General Characteristics Of the Participantsmentioning

confidence: 99%

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A Multi-Omics Approach Reveals New Signatures in Obese Allergic Asthmatic Children

et al. 2020

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“…In order to demonstrate how the pGRS can quantify inherited susceptibility to obesity, and its cardio-metabolic comorbidities, we counted on a cross-sectional cohort of Spanish children. This cohort was referred to as study population 1 and is based on a previously conducted case-control multicentre cross-sectional design ( Figure 1 A) [ 26 , 27 ]. Among all available participants from the previous work ( N = 1699), current genetic analyses were performed in a subset population of 574 children (293 girls) who had good quality DNA samples.…”

Section: Methodsmentioning

confidence: 99%

“…On the other hand, the IR status was defined by means of the homeostatic model assessment for insulin resistance (HOMA-IR) index. Since HOMA-IR strongly varies with age, sex and diseases [31], and since no reference values have been yet established in neither children nor adult populations [31,32], cut-off points were extracted from a previous well-described Spanish cohort composed of 1669 children and adolescents [27,33]. For the prepubertal stage, a single cut-off value of HOMA-IR ≥ 2.5 was considered for IR [26,33].…”

Section: Study Population 2: Longitudinal Approachmentioning

confidence: 99%

Evaluation of the Predictive Ability, Environmental Regulation and Pharmacogenetics Utility of a BMI-Predisposing Genetic Risk Score during Childhood and Puberty

Anguita‐Ruiz

González-Gil

Rupérez

et al. 2020

JCM

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Polygenetic risk scores (pGRSs) consisting of adult body mass index (BMI) genetic variants have been widely associated with obesity in children populations. The implication of such obesity pGRSs in the development of cardio-metabolic alterations during childhood as well as their utility for the clinical prediction of pubertal obesity outcomes has been barely investigated otherwise. In the present study, we evaluated the utility of an adult BMI predisposing pGRS for the prediction and pharmacological management of obesity in Spanish children, further investigating its implication in the appearance of cardio-metabolic alterations. For that purpose, we counted on genetics data from three well-characterized children populations (composed of 574, 96 and 124 individuals), following both cross-sectional and longitudinal designs, expanding childhood and puberty. As a result, we demonstrated that the pGRS is strongly associated with childhood BMI Z-Score (B = 1.56, SE = 0.27 and p-value = 1.90 × 10−8), and that could be used as a good predictor of obesity longitudinal trajectories during puberty. On the other hand, we showed that the pGRS is not associated with cardio-metabolic comorbidities in children and that certain environmental factors interact with the genetic predisposition to the disease. Finally, according to the results derived from a weight-reduction metformin intervention in children with obesity, we discarded the utility of the pGRS as a pharmacogenetics marker of metformin response.

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Serum levels of the novel adipokine isthmin-1 are associated with obesity in pubertal boys

et al. 2023

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Objectives To evaluate whether there is an association between the serum levels of the novel insulin-like adipokine isthmin-1 (ISM1) and obesity-related phenotypes in a population of Spanish children and to investigate the plausible molecular alterations behind the alteration of the serum levels of this protein in children with obesity. Methods The study population is a sub-cohort of the PUBMEP research project, consisting of a cross-sectional population of 119 pubertal children with overweight (17 boys, 19 girls), obesity (20 boys, 25 girls), and normal weight (17 boys, 21 girls). All subjects were classified into experimental groups according to their sex, obesity, and insulin resistance (IR) status. They were counted anthropometry, glucose and lipid metabolism, inflammation and cardiovascular biomarkers as well as isthmin-1 (ISM1) serum levels. This population was intended as a discovery population to elucidate the relationship between obesity and ISM1 levels in children. Furthermore, the study population had blood whole-genome DNA methylation examined, allowing deepening into the obesity–ISM1 molecular relationship. Results Higher serum ISM1 levels were observed in boys with obesity than in normal weight (P = 0.004) and overweight (P = 0.007) boys. ISM1 serum levels were positively associated with body mass index (BMI) Z-score (P = 0.005) and fat mass (P = 0.058) and negatively associated with myeloperoxidase (MPO) (P = 0.043) in boys. Although we did not find associations between ISM1 serum levels and metabolic outcomes in girls, which may indicate a putative sexual dimorphism, fat mass was positively associated in all children, including boys and girls (P = 0.011). DNA methylation levels in two-enhancer-related CpG sites of ISM1 (cg03304641 and cg14269097) were associated with serum levels of ISM1 in children. Conclusions ISM1 is associated with obesity in boys at the pubertal stage, elucidating how this protein might be of special relevance as a new biomarker of obesity in children. Further studies including a longitudinal design during puberty are needed.

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X chromosome genetic data in a Spanish children cohort, dataset description and analysis pipeline

Cited by 6 publications

References 38 publications

A Multi-Omics Approach Reveals New Signatures in Obese Allergic Asthmatic Children

A Multi-Omics Approach Reveals New Signatures in Obese Allergic Asthmatic Children

Evaluation of the Predictive Ability, Environmental Regulation and Pharmacogenetics Utility of a BMI-Predisposing Genetic Risk Score during Childhood and Puberty

Serum levels of the novel adipokine isthmin-1 are associated with obesity in pubertal boys

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