Integration of functional genomics and statistical fine-mapping systematically characterizes adult-onset and childhood-onset asthma genetic associations

• Published in: Genome medicine Vol. 17; no. 1; pp. 35 - 14
• Main Authors: Zhong, Xiaoyuan, Mitchell, Robert, Billstrand, Christine, Thompson, Emma E., Sakabe, Noboru J., Aneas, Ivy, Salamone, Isabella M., Gu, Jing, Sperling, Anne I., Schoettler, Nathan, Nóbrega, Marcelo A., He, Xin, Ober, Carole
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 10.04.2025; BioMed Central; BMC
• Subjects: Adult; Age of Onset; Analysis; Annotations; Anopheles; Asthma; Asthma - epidemiology; Asthma - genetics; Asthma in children; B cells; Blood; Child; Children; Chromatin; Chromosome Mapping; Chronic obstructive pulmonary disease; Cis-regulatory elements; Clinical trials; DNA methylation; Enhancer Elements, Genetic; Enhancers; Epigenomics; Epithelial cells; Fine-mapping; Functional annotations; Gene loci; Gene mapping; Genes; Genetic Predisposition to Disease; Genetic research; Genome-wide association studies; Genome-Wide Association Study; Genomes; Genomics; Genomics - methods; Heritability; Humans; Pathogenesis; Pleiotropy; Polymorphism, Single Nucleotide; Quantitative genetics; Quantitative Trait Loci; Regulatory sequences; Therapeutic targets; Candidate causal genes; Functional annotations; Genome-wide association studies; Epigenomics; Fine-mapping; Cis-regulatory elements; Asthma genetics

Genome-wide association studies (GWAS) have identified hundreds of loci underlying adult-onset asthma (AOA) and childhood-onset asthma (COA). However, the causal variants, regulatory elements, and effector genes at these loci are largely unknown. We performed heritability enrichment analysis to dete...