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Arnau Soler, A.

Publications and source records attributed to Arnau Soler, A..

4 recordsLinked to original sources

Multi-omics analysis reveals vitamin D metabolism, hyper-IgE genes, and epithelial barrier dysfunction in hazelnut allergy

BackgroundHazelnut allergy is a major cause of food-induced anaphylaxis yet remains poorly defined at the molecular level. ObjectiveWe aimed to identify molecular differences between individuals with primary hazelnut allergy and nonallergic controls by investigating a comprehensive spectrum of omics profiles in immune cells. MethodsWe analysed DNA methylation, transcriptomic and proteomic profiles in hazelnut-stimulated and unstimulated immune cells. ResultsAcross analyses, we identified 80 differentially methylated signatures, 125 differentially expressed genes, and 11 differentially secreted proteins associated with hazelnut allergy. DNA methylation signatures were highly concordant between unstimulated and stimulated conditions, consistent with stable epigenetic remodelling. Key findings implicated ZNF341, associated with a rare monogenic hyper-IgE syndrome, and ARL2, both linked to STAT3-mediated IgE dysregulation. Additionally, we identified a differentially methylated region (DMR) overlapping the T Helper Type 2 Locus Control Region Associated RNA (TH2LCRR) in the cytokine gene cluster, suggesting an epigenetic mechanism contributing to IL-5 and IL-13 upregulation. Antigen stimulation was required to reveal hazelnut-specific transcriptional and proteomic signals. Integration of these data demonstrated that IL-5 expression could distinguish both groups. We identified signals in epithelial barrier genes of the gut and skin (TRIM31, TRIM40, CDSN), activation of the vitamin D pathway (CYP27B1, IL32), and nominate additional signals (PHACTR1, MFHAS1, SPRED2, GALNT5/GALNTL4, NSMCE1-DT) for follow-up. ConclusionOur study confirms type-2 cytokines, Fc{varepsilon}RI, and JAK-STAT signalling and uncovers novel links to monogenic hyper-IgE syndrome, activation of vitamin-D pathways, and gut/skin barrier genes, yielding a catalogue of candidate biomarkers for mechanistic studies and prospective validation. Key messagesO_LIAntigen-specific multi-omics analysis confirms JAK-STAT and Th2 control pathways, with IL-5 emerging as a key marker distinguishing hazelnut-allergic from nonallergic individuals. C_LIO_LIEpigenetic and transcriptomic analysis points to roles for vitamin D metabolism, hyper-IgE-associated genes, and epithelial barrier dysfunction in hazelnut allergy C_LIO_LIThis first antigen-specific methylation and multi-omics discovery study in hazelnut allergy provides candidate pathways and genes to guide future studies C_LI Capsule summaryThis antigen-specific multi-omics study confirms JAK-STAT/Th2 control pathways, pinpoints the IL-5 response as biomarker distinguishing hazelnut allergy, implicates vitamin D metabolism, hyper-IgE genes, and epithelial barrier dysfunction, and delivers additional candidate genes to guide future research.

systems biology↗

Genome-wide by environment interaction studies (GWEIS) of depressive symptoms and psychosocial stress in UK Biobank and Generation Scotland.

Stress is associated with poorer physical and mental health. To improve our understanding of this link, we performed genome-wide association studies (GWAS) of depressive symptoms and genome-wide by environment interaction studies (GWEIS) of depressive symptoms and stressful life events (SLE) in two UK population cohorts (Generation Scotland and UK Biobank). No SNP was individually significant in either GWAS, but gene-based tests identified six genes associated with depressive symptoms in UK Biobank (DCC, ACSS3, DRD2, STAG1, FOXP2 and KYNU; p < 2.77x10-6). Two SNPs with genome-wide significant GxE effects were identified by GWEIS in Generation Scotland: rs12789145 (53kb downstream PIWIL4; p = 4.95x10-9; total SLE) and rs17070072 (intronic to ZCCHC2; p = 1.46x10-8; dependent SLE). A third locus upstream CYLC2 (rs12000047 and rs12005200, p < 2.00x10-8; dependent SLE) when the joint effect of the SNP main and GxE effects was considered. GWEIS gene-based tests identified: MTNR1B with GxE effect with dependent SLE in Generation Scotland; and PHF2 with the joint effect in UK Biobank (p < 2.77x10-6). Polygenic risk scores (PRS) analyses incorporating GxE effects improved the prediction of depressive symptom scores, when using weights derived from either the UK Biobank GWAS of depressive symptoms (p = 0.01) or the PGC GWAS of major depressive disorder (p = 5.91x10-3). Using an independent sample, PRS derived using GWEIS GxE effects provided evidence of shared aetiologies between depressive symptoms and schizotypal personality, heart disease and COPD. Further such studies are required and may result in improved treatments for depression and other stress-related conditions.

genetics↗

Genetic and environmental determinants of stressful life events and their overlap with depression and neuroticism

BackgroundStressful life events (SLEs) and neuroticism are risk factors for major depressive disorder (MDD). However, SLEs and neuroticism are heritable traits that are correlated with genetic risk for MDD. In the current study, we sought to investigate the genetic and environmental contributions to SLEs in a large family-based sample, and quantify any genetic overlap with MDD and neuroticism.\n\nMethodsA subset of Generation Scotland: the Scottish Family Health Study, consisting of 9618 individuals comprise the present study. We estimated the heritability of SLEs using pedigree-based and molecular genetic data. The environment was assessed by modelling familial, couple and sibling components. Using polygenic risk scores (PRS) and LD score regression we analysed the genetic overlap between MDD, neuroticism and SLEs.\n\nResultsPast 6-month life events were positively correlated with lifetime MDD status ({beta}=0.21, r2=1.1%, p=2.5 x 10-25) and neuroticism ({beta} =0.13, r2=1.9%, p=1.04 x 10-37). Common SNPs explained 8% of the variance in personal life events (those directly affecting the individual) (S.E.=0.03, p=9 x 10-4). A significant effect of couple environment accounted for 13% (S.E.=0.03, p=0.016) of variation in SLEs. PRS analyses found that individuals with higher PRS for MDD reported more SLEs ({beta} =0.05, r2=0.3%, p=3 x 10-5). LD score regression demonstrated genetic correlations between MDD and both SLEs (rG=0.33, S.E.=0.08) and neuroticism (rG=0.15, S.E.=0.07).\n\nConclusionsThese findings suggest that SLEs are partially heritable and this heritability is shared with risk for MDD and neuroticism. Further work should determine the causal direction and source of these associations.

genetics↗

Genome-wide interaction study of stress-sensitivity and its prediction of major depressive disorder in UK Biobank and Generation Scotland

Individual response to stress is correlated with neuroticism and is an important predictor of both neuroticism and the onset of major depressive disorder (MDD). Identification of the genetics underpinning individual differences in response to negative events (stress-sensitivity) may improve our understanding of the molecular pathways involved, and its association with stress-related illnesses. We sought to generate a proxy for stress-sensitivity through modelling the interaction between SNP allele and MDD status on neuroticism score in order to identify genetic variants that contribute to the higher neuroticism seen in individuals with a lifetime diagnosis of depression compared to unaffected individuals. Meta-analysis of genome-wide interaction studies (GWIS) in UK Biobank (N = 23,092) and Generation Scotland: Scottish Family Health Study (N = 7,155) identified no genome-wide significance SNP interactions. However, gene-based tests identified a genome-wide significant gene, ZNF366, a negative regulator of glucocorticoid receptor function implicated in alcohol dependence (p = 1.48x10-7; Bonferroni-corrected significance threshold p < 2.79x10-6). Using summary statistics from the stress-sensitivity term of the GWIS, SNP heritability for stress-sensitivity was estimated at 5.0%. In models fitting polygenic risk scores of both MDD and neuroticism derived from independent GWAS, we show that polygenic risk scores derived from the UK Biobank stress-sensitivity GWIS significantly improved the prediction of MDD in Generation Scotland. This study may improve interpretation of larger genome-wide association studies of MDD and other stress-related illnesses, and the understanding of the etiological mechanisms underpinning stress-sensitivity.

genetics↗