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A gene-by-sex interaction contributes to liver disease susceptibility in women

Nature Medicine volume 29, pages 2422–2423 (2023)Cite this article

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Clinical and population-based cohorts revealed an interaction between the inherited PNPLA3 p.I148M variant and female sex in determining liver disease. Transcriptomic and functional studies showed that the mechanism encompasses ERα-dependent upregulation of PNPLA3 in hepatocytes, highlighting a target for precision medicine therapeutics in cisgender women.

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Fig. 1: ERα-dependent effect of the PNPLA3 p.I148M variant on liver disease.

References

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This is a summary of: Cherubini, A. et al. Interaction between estrogen receptor-α and PNPLA3 p.I148M variant drives fatty liver disease susceptibility in women. Nat. Med. https://doi.org/10.1038/s41591-023-02553-8 (2023).

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A gene-by-sex interaction contributes to liver disease susceptibility in women. Nat Med 29, 2422–2423 (2023). https://doi.org/10.1038/s41591-023-02558-3

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