Amirthagowri Ambalavanan

Interactions between human milk components and infant polygenic risk predict childhood atopy

Zhi Yi Fang, Sara A Stickley, Jihoon Choi, Elizabeth George et autres

Abstract Background Although human milk (HM) confers important health benefits, how bioactive milk components (e.g., microbiota, oligosaccharides, and fatty acids) interact with infant genetics to influence childhood atopy remains poorly understood. Objective We investigated interactions between infant genomic susceptibility and exposure to …

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Epistatic SNP network analysis (ESNA): A scalable framework for genome-wide detection of higher-order genetic interactions

Y Zhang, Ming Han, Amirthagowri Ambalavanan, Danai Topouza et autres

Abstract Although genome-wide association studies (GWASs) have been widely applied to investigate the genetic basis of common traits and diseases in human populations, the associated loci do not fully account for the estimated heritability. The missing heritability may be explained, in part, …

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Exposomics for childhood asthma

Geoffrey L. Winsor, Justin Cook, Karlie Edwards, Erin E. Gill et autres

Abstract Identification of early interventions to reduce/eliminate asthma - the most common chronic disease among children - could significantly reduce burden on the healthcare system. Large-scale asthma Exposome-Wide Association Studies (ExWAS) could identify potential interventions, however integration of diverse data is required …

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New Pattern of Emerging Somatic Mutations in Optimal Responders Following Tyrosine Kinase Inhibitor Therapy in Chronic Myeloid Leukemia Patients

Dennis Dong Hwan Kim, Yael Morgenstern, María Agustina Perusini, Gopila Gupta et autres

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DNA methylation instability as a biomarker to predict resistance or progression to advanced disease Phase following tyrosine kinase inhibitor therapy in chronic myeloid leukemia

Yael Morgenstern, Oyeronke Ayansola, Jae-Sook Ahn, María Agustina Perusini et autres

Abstract Introduction DNA methylation occurs at defined CpG sites across the genome and plays a critical role in regulating gene expression. In young, healthy individuals, methylation patterns in peripheral blood cells are largely confined to stable methylation sites (SMSs). With aging, increased …

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Immune deconvolution from whole transcriptomic data suggests expansion of exhausted T-cells and natural killer cells following tyrosine kinase inhibitor therapy in chronic myeloid leukemia patients

Yael Morgenstern, Amirthagowri Ambalavanan, Jae-Sook Ahn, María Agustina Perusini et autres

Abstract Introduction Tyrosine kinase inhibitor (TKI) therapy, while targeting leukemic cells, also alters the immune landscape in chronic myeloid leukemia (CML). Notably, expansion of immune cell populations such as T- or NK-cells has been associated with achieving and maintaining treatment-free remission (TFR). …

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Emergence of new somatic mutations in CML patients optimally responding to tyrosine kinase inhibitor therapy: Proposal of long-term genomic monitoring

Yael Morgenstern, Gopila Gupta, Flavia Patino, María Agustina Perusini et autres

Abstract Introduction Next-generation sequencing (NGS) has revealed a broader range of somatic mutations in chronic myeloid leukemia (CML) patients (pts), which is associated with long-term outcomes, including ASXL1. The current ELN laboratory guideline recommend NGS profiling for pts progressing to blast phase …

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Human milk components interact with infant genomics to modulate gut microbiota, childhood asthma and atopy

Sara A Stickley, Zhi Fang, Amirthagowri Ambalavanan, Elizabeth George et autres

Summary The benefits of breastfeeding are well established; however, the mechanisms by which human milk components (HMCs) impact children’s long-term health remain poorly understood. We leveraged datasets from the CHILD Cohort Study to explore how exposure to variable HMCs— including oligosaccharides (HMOs), …

Early-preschool wheeze trajectories are predominantly nonallergic with distinct biologic and microbiome traits

Zihang Lu, Charisse Petersen, Ruixue Dai, Myrtha E. Reyna et autres

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Exposure to maternal human milk components interacts with infant polygenic risk to predict childhood atopy

Qing Duan, Zhi Yi Fang, Sara Stickley, Jihoon Choi et autres

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Novel germline and somatic variants in familial and sporadic meningioma genes

Bouchra Ouled Amar Bencheikh, Allison A. Dilliott, Julie Gauthier, Sandra B. Laurent et autres

Meningiomas arise from arachnoid cells in the meninges surrounding the brain and spinal cord and are attributed to NF2 pathogenic variants in, approximately 60% of cases. Using exome sequencing, we found heterozygous germline variants in nine potential novel meningioma genes across four …

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Gene-by-environment interactions modulate the infant gut microbiota in asthma and atopy

Sara A Stickley, Zhi Fang, Amirthagowri Ambalavanan, Yang Zhang et autres

BACKGROUND: Gut microbiota has been associated with health and susceptibility to childhood diseases, including asthma and allergies. However, the genomic factors contributing to interindividual variations in gut microbiota remain poorly understood. OBJECTIVE: We sought to integrate host genomics with early-life exposures to …

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