Article
A missense variant in SLC39A8 confers risk for Crohn's disease by disrupting manganese homeostasis and intestinal barrier integrity.
Proceedings of the National Academy of Sciences of the United States of America - 17 Nov 2020
Nakata Toru, Creasey Elizabeth A, Kadoki Motohiko, Lin Helen, Selig Martin K, Yao Junmei, Lefkovith Ariel, Daly Mark J, Graham Daniel B, Xavier Ramnik J
Abstract excerpt
Common genetic variants interact with environmental factors to impact risk of heritable diseases. A notable example of this is a single-nucleotide variant in the Solute Carrier Family 39 Member 8 (SLC39A8) gene encoding the missense variant A391T, which is associated with a variety of traits ranging from Parkinson's disease and neuropsychiatric disease to cardiovascular and metabolic diseases and Crohn's disease....
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