Biomedical subjects

Barbara Heude

Publications and source records attributed to Barbara Heude.

5 recordsLinked to original sources

PubMed2026

Genome-wide association meta-analysis of eating behavior traits revealed one susceptibility locus for emotional eating.

In order to identify new and genome-wide significant loci for eating behavior traits (cognitive restraint, uncontrolled eating and emotional eating), we conducted a meta-GWAS with seven studies of European ancestry (n = 11,250). Eating behavior was assessed using the Three-Factor Eating Questionnaire. Genotype effects of single studies were estimated using additive models adjusting for age, sex, BMI, and principal components and single study results were combined by fixed-effect meta-analysis.For cognitive restraint and uncontrolled eating, no genome-wide significant association could be detected. For emotional eating, one genomic region on chromosome 5 comprising two polymorphisms attained genome-wide significance (P = 4.0×10-8 for rs6877636 and P = 3.2×10-8 for rs6897090). The minor alleles were associated with higher emotional eating scores (β=0.093 ± 0.017), with a similar direction of effect in each study. Both SNPs, in near perfect linkage disequilibrium, mapped to RP11-24P24.1, a processed pseudogene of ornithine decarboxylase 1 (ODC1). Enrichment analysis revealed a significant overlap between genome-wide BMI-associated variants and nominal emotional eating variants, supporting the hypothesis that shared genetic factors may influence both eating behavior traits and obesity risk. Finally, we observed a number of interesting associations reaching suggestive significance (P < 10-6) involving BMI candidate genes, including a suggestive association between FTO variants and cognitive restraint (rs9922708, β = 0.069, P = 5.9×10-7).In conclusion, our meta-GWAS identified for the first time a robust chromosomal region associated with emotional eating in seven studies. Given that emotional eating strongly influences body weight but is often stigmatized, recognizing genetic susceptibility to certain eating behaviors may help reduce stigma and alleviate guilt.

Journal Article↗

PubMed2026

Genome-wide association study of patterns of perinatal exposure to polyunsaturated fatty acids from the EDEN mother-child cohort.

The genetic determinants of polyunsaturated fatty acid (PUFA) status during the perinatal window require deeper understanding. We conducted a genome-wide association study of perinatal PUFA patterns in 1352 mother-child pairs from the French EDEN cohort using maternal genotype data. Five perinatal PUFA patterns had been previously derived using PUFA levels measured in maternal blood, cord blood, and colostrum simultaneously. We used linear regression models assuming additive genetic effects to assess the associations between common SNPs and each pattern, adjusting for maternal age, study center, and genetic ancestry. Pattern 1 "High omega-3 Long-chain (LC)-PUFAs, low omega-6 LC-PUFAs" was not associated with any genetic variants. Patterns 2 to 5-"Omega-6 LC-PUFAs," "Colostrum LC-PUFAs," "Omega-6 precursor (LA) and DGLA," and "LA and colostrum ALA"-were strongly associated with variants in the FADS gene cluster. The strongest association was observed between Pattern 4 "Omega-6 precursor (LA) and DGLA," and rs174546 located on FADS1 gene region (β (SE) = 0.80 (0.034), p < 10⁻102). No other robust association was found with other genes. These findings underscore the main contribution of FADS variants to the variability of four specific perinatal PUFA patterns in our cohort. This study should be replicated in larger, ancestrally diverse populations beyond individuals of European descent.

EDEN cohort↗

PubMed2026

Genetic determinants of childhood blood pressure and heart rate in relation to adult health outcomes: the consortium of childhood blood pressure.

BACKGROUND AND AIMS: To elucidate the genetic architecture of blood pressure (BP) and heart rate (HR) during early life and assess their potential relevance to adult health outcomes. METHODS: The largest genome-wide association study (GWAS) meta-analyses to date of childhood systolic BP, diastolic BP, pulse pressure, and mean arterial pressure (n = 28 425) and HR (n = 22 565) were conducted in children of European ancestry aged 4-17 years. Follow-up analyses included comparisons with adult GWAS results, polygenic risk score (PRS) analyses in independent cohorts of diverse ancestries, and a phenome-wide association study in the UK Biobank. RESULTS: Eight genome-wide significant loci were identified for childhood BP (KIAA2013, CACNB2, PLCE1, PAX2, COL4A2, RP11-236L14.1, CFDP1, TPX2) and three loci for childhood HR (CCDC141, ACHE, MYH6); all novel in children but previously reported in adults. Childhood PRSs explained up to 1.6% of BP variance and 5.2% of HR variance among children of European ancestry. Genetic correlations between childhood and adulthood BP traits were moderate (rg = 0.4-0.7), suggesting age-specific genetic effects on BP. In the UK Biobank, higher childhood BP PRS levels were significantly associated with a broad range of adult health outcomes, particularly cardiometabolic outcomes such as hypertension, angina, myocardial infarction, and cardiovascular disease-related mortality. CONCLUSIONS: These findings advance the understanding of the genetic architecture of childhood BP and HR and provide compelling genetic evidence linking childhood BP to a broad spectrum of adult health outcomes-particularly cardiometabolic conditions-which may inform targeted prevention strategies from a young age.

Humans↗

PubMed2025

Immediate and durable effects of maternal tobacco consumption on placental DNA methylation: a replication and discovery study.

An increasing number of epigenome-wide association studies report tobacco smoking-associated DNA methylation levels. However, comprehensive replication studies remain scarce, particularly in placenta, despite their crucial interest in such a large-scale context. Using DNA methylation data from the EPIC array of 341 new placentas (85 smokers, 219 non-smokers, and 37 former smokers) from the EDEN cohort, we used a candidate approach to replicate maternal smoking-associated CpGs and regions previously identified using the 450K array, and an exploratory approach to discover new associations within EPIC-specific CpGs. Smoking-associated changes in DNA methylation in CpGs and regions were classified as either transient or persistent (indicating epigenetic memory), depending on the stability of their association with smoking status. Among candidate loci, 38% of probes and 9% of regions were replicated, providing robust evidence of effects of prenatal smoke exposure on methylation patterns of these loci. LEKR1 was the top hit in both the initial and replication studies. Most of the replicated loci were transient CpGs (i.e. current smokers), while persistent CpGs (i.e. former smokers) remained scarce and somewhat inconsistent with previous findings. The additional exploratory analysis identified 733 novel probes and 75 novel regions, including 18% and 30% of transient loci, respectively. Results suggested that most of the effects were related to in utero exposure only, supporting pregnant women's efforts to quit smoking. This replication study also evidences the importance of reproducible work in omic investigations to provide a more in-depth and robust understanding of the effects of environmental exposures on health biomarkers..

DNA methylation↗

PubMed2024

Common genetic variants associated with urinary phthalate levels in children: A genome-wide study.

INTRODUCTION: Phthalates, or dieters of phthalic acid, are a ubiquitous type of plasticizer used in a variety of common consumer and industrial products. They act as endocrine disruptors and are associated with increased risk for several diseases. Once in the body, phthalates are metabolized through partially known mechanisms, involving phase I and phase II enzymes. OBJECTIVE: In this study we aimed to identify common single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) associated with the metabolism of phthalate compounds in children through genome-wide association studies (GWAS). METHODS: The study used data from 1,044 children with European ancestry from the Human Early Life Exposome (HELIX) cohort. Ten phthalate metabolites were assessed in a two-void pooled urine collected at the mean age of 8 years. Six ratios between secondary and primary phthalate metabolites were calculated. Genome-wide genotyping was done with the Infinium Global Screening Array (GSA) and imputation with the Haplotype Reference Consortium (HRC) panel. PennCNV was used to estimate copy number variants (CNVs) and CNVRanger to identify consensus regions. GWAS of SNPs and CNVs were conducted using PLINK and SNPassoc, respectively. Subsequently, functional annotation of suggestive SNPs (p-value < 1E-05) was done with the FUMA web-tool. RESULTS: We identified four genome-wide significant (p-value < 5E-08) loci at chromosome (chr) 3 (FECHP1 for oxo-MiNP_oh-MiNP ratio), chr6 (SLC17A1 for MECPP_MEHHP ratio), chr9 (RAPGEF1 for MBzP), and chr10 (CYP2C9 for MECPP_MEHHP ratio). Moreover, 115 additional loci were found at suggestive significance (p-value < 1E-05). Two CNVs located at chr11 (MRGPRX1 for oh-MiNP and SLC35F2 for MEP) were also identified. Functional annotation pointed to genes involved in phase I and phase II detoxification, molecular transfer across membranes, and renal excretion. CONCLUSION: Through genome-wide screenings we identified known and novel loci implicated in phthalate metabolism in children. Genes annotated to these loci participate in detoxification, transmembrane transfer, and renal excretion.

Humans↗