Journal of Genetic Disorders

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Eosinophilic Esophagitis Genetics Innovations

Eosinophilic esophagitis (EoE) is a complex genetic disorder characterized by eosinophilic inflammation within the esophagus. Most epidemiological studies estimate the prevalence of EoE by 4 out of 10,000, with the most prevalent disease among some European and male ancestors, highlighting genetic testing for the disease. In general EoE has been observed to occur in many family members, especially siblings, in a non-Mendelian pattern, indicating that the constitutive component of EoE may be naturally complex. Although EoE is a newly diagnosed disease that involves complex polygenic etiology, significant progress has been made in identifying molecular pathways that contribute to disease pathogenesis and genetic variation associated with disease detection using genome-wide and gene approaches as well as study designs (case management and family living groups). Here, we discuss the major scientific findings that have captured the current EoE status of molecular and genetic markers and the major barriers to the discovery of genetic variants in critical diseases.

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Citations : 28

Journal of Genetic Disorders received 28 citations as per Google Scholar report

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