Genetic Basis of Allergic Disease

These projects employ candidate-gene approaches, genome-wide association studies (GWAS), whole-exome sequencing (WES), and other advanced techniques and approaches to identify genetic risk factors for allergic diseases and to elucidate molecular insight into disease pathogenesis.

Current Projects

Mechanism by which specific genetic susceptibility loci contribute to EoE susceptibility and related responses
Deciphering the role of the 2p23 genetic variants, particularly CAPN14 in EoE
Deciphering the role of the 5q22 genetic variants, particularly TSLP in EoE
Epistasis between CAPN14, TSLP and other genetic risk variants
Identification of causative mutations in EoE via Next Generation Sequencing
Genetics of Multiplex EoE
Interaction between genome, environome and microbiome
Develop polygenic risk scores

CAPN14 and EoE Tissue Specificity

Our data, published in Nature Genetics, suggest that the tissue-specific nature of eosinophilic esophagitis (EoE) is mediated by the interplay of allergic sensitization with an EoE-specific, IL-13-inducible esophageal response involving calpain 14 (CAPN14). We have now elucidated that CAPN14 is an intracellular enzyme induced by IL-13 and involved in regulating epithelial responses. Read More

TSLP and EoE Susceptibility

Our collective data, published in Nature Genetics and JACI, show that thymic stromal lymphopoietin (TSLP) is involved in eosinophilic esophagitis (EoE) susceptibility.

Twins and Genetics Related to EoE

The Rothenberg Lab contributes to the current research related to twins and eosinophilic esophagitis (EoE), published in the Journal of Allergy and Clinical Immunology by genetic experts at the Cincinnati Center for Eosinophilic Disorders (CCED). Read More

Rothenberg LabCurrent Projects