Notable Histologic Findings in a "Normal" Cohort: The National Institutes of Health Genotype-Tissue Expression (GTEx)
Philip A Branton1, Leslie Sobin2, Mary Barcus2
1From the Biorepositories and Biospecimen Research Branch, Cancer Diagnosis Program, Division of Cancer Treatment and Diagnosis, National Cancer Institute, Bethesda, Maryland (Branton, Guan, Vaught, Moore).
Archives of Pathology & Laboratory Medicine
|April 26, 2024
Summary
The National Institutes of Health Genotype-Tissue Expression (GTEx) project
Area of Science:
- Genomics
- Pathology
- Epigenetics
Background:
- The Genotype-Tissue Expression (GTEx) project aims to understand gene expression.
- Genetic and epigenetic factors influence gene expression in normal tissues.
Purpose of the Study:
- To evaluate how genetic variation and epigenetic effects influence gene expression.
- To ensure collected tissues were disease-free through histologic evaluation.
Main Methods:
- Nearly 30,000 tissue aliquots from 1,000 postmortem donors were histologically reviewed.
- Pathologists recorded detailed observations of abnormalities and lesions.
Main Results:
- Incidental findings included neoplastic, autoimmune, and genetic conditions.
- The incidence of some conditions in GTEx donors differed from other populations.
- Age-related abnormalities were also observed.
Conclusions:
- Histologic findings can improve awareness of various conditions.
- The data provides opportunities to study age- and sex-influenced conditions.
- Histologic images and sequencing data are publicly available.
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