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Pleiotropic genes underlying genetic correlations across human diseases
I V Zorkoltseva1, N M Belonogova1, A V Kirichenko1
1Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.
Vavilovskii Zhurnal Genetiki I Selektsii
|May 11, 2026
Summary
Genetic pleiotropy, where single genes influence multiple traits, explains most genetic correlations between human diseases. Researchers identified 167 pleiotropic genes linked to 39 diseases, highlighting shared genetic underpinnings.
Area of Science:
- Human Genetics
- Genomics
- Bioinformatics
Background:
- Genetic correlation reflects shared genetic influences on human traits.
- Pleiotropy, particularly at the gene level, is the primary mechanism driving genetic correlations.
- Understanding pleiotropic genes is crucial for deciphering complex disease relationships.
Purpose of the Study:
- To identify pleiotropic genes responsible for significant genetic correlations among human diseases.
- To investigate the extent and biological basis of pleiotropy across a network of correlated diseases.
Main Methods:
- Genome-wide association studies (GWAS) data for 324 diseases were analyzed.
- Selected 45 diseases with significant pairwise genetic correlations.
- Employed gene-based association analysis, SNP selection in coding regions, and cross-trait meta-analysis to find pleiotropic genes.
- Conducted comprehensive bioinformatic analysis on identified genes.
Main Results:
- Identified 167 pleiotropic genes associated with 39 diseases.
- Top genes (LPA, TCF7L2, SLC22A3, FES, CDKN2B, APOE) linked to 7-9 diseases each.
- These genes are involved in 501 additional diseases and traits, indicating broad biological roles.
- 87% of diseases in a correlated network share genes with others.
Conclusions:
- Genetic correlations between human diseases are predominantly driven by shared pleiotropic genes.
- Pleiotropic genes participate in fundamental biological processes and molecular functions.
- This highlights the interconnectedness of genetic architectures underlying human diseases.
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