Pleiotropic ZIP8 A391T implicates abnormal manganese homeostasis in complex human disease.

doi:10.1172/jci.insight.140978

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Article

Pleiotropic ZIP8 A391T implicates abnormal manganese homeostasis in complex human disease.

JCI insight - 15 Oct 2020

Sunuwar Laxmi, Frkatović Azra, Sharapov Sodbo, Wang Qinchuan, Neu Heather M, Wu Xinqun, Haritunians Talin, Wan Fengyi, Michel Sarah, Wu Shaoguang, Donowitz Mark, McGovern Dermot, Lauc Gordan, Sears Cynthia, Melia Joanna

Abstract excerpt

ZIP8 is a metal transporter with a role in manganese (Mn) homeostasis. A common genetic variant in ZIP8 (rs13107325; A391T) ranks in the top 10 of pleiotropic SNPs identified in GWAS; A391T has associations with an increased risk of schizophrenia, obesity, Crohn's disease, and reduced blood Mn. Here, we used CRISPR/Cas9-mediated knockin (KI) to generate a mouse model of ZIP8 A391T (Zip8 393T-KI mice)....

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PMID: 32897876
DOI: 10.1172/jci.insight.140978
PMCID: PMC7605523

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