A study published in BMCMedicine finds that childhood overweight/adiposity at age 5 years has a specific serum metabolic phenotype, with the profile being more prominent in females compared to males.
Fifty-one serum metabolites were consistently measured in over 75% of the samples and satisfied QC criteria of a variance under 30% when using MSI-CE-MS under 2 configurations with positive and negative-ion mode detection. Forty-six metabolites were unambiguously identified and subsequently quantified using a calibration curve, where ion responses were normalized to an internal standard .
Of note, fasting status was the only differing collection parameter between the discovery and validation cohorts, while type of specimen, collection and storage parameters, sample preprocessing, and metabolomics analysis were identical between cohorts.Descriptive statistics for anthropometrics, age, blood pressure, and lifestyle factors were presented as mean and standard deviation overall and stratified by cases and non-cases , for children 5 years of age.
Among the 900 study participants in CHILD, all covariates were available for 696 children . To test consistency of results, missing values of covariates, assumed to be missing at random, were multiple imputed using the MICE R package that uses a conditional multiple imputation approach. Estimates were pooled from all 20 imputed datasets.
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Sex differences in the polygenic architecture of hearing problems in adults - Genome MedicineBackground Hearing problems (HP) in adults are common and are associated with several comorbid conditions. Its prevalence increases with age, reflecting the cumulative effect of environmental factors and genetic predisposition. Although several risk loci have been already identified, HP biology and epidemiology are still insufficiently investigated by large-scale genetic studies. Methods Leveraging the UK Biobank, the Nurses’ Health Studies (I and II), the Health Professionals Follow-up Study, and the Million Veteran Program, we conducted a comprehensive genome-wide investigation of HP in 748,668 adult participants (discovery N = 501,825; replication N = 226,043; cross-ancestry replication N = 20,800). We leveraged the GWAS findings to characterize HP polygenic architecture, exploring sex differences, polygenic risk across ancestries, tissue-specific transcriptomic regulation, cause-effect relationships with genetically correlated traits, and gene interactions with HP environmental risk factors. Results We identified 54 risk loci and demonstrated that HP polygenic risk is shared across ancestry groups. Our transcriptomic regulation analysis highlighted the potential role of the central nervous system in HP pathogenesis. The sex-stratified analyses showed several additional associations related to peripheral hormonally regulated tissues reflecting a potential role of estrogen in hearing function. This evidence was supported by the multivariate interaction analysis that showed how genes involved in brain development interact with sex, noise pollution, and tobacco smoking in relation to their HP associations. Additionally, the genetically informed causal inference analysis showed that HP is linked to many physical and mental health outcomes. Conclusions The results provide many novel insights into the biology and epidemiology of HP in adults. Our sex-specific analyses and transcriptomic associations highlighted molecular pathways that may be targeted for drug developme
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