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Article

SEMA7AR148W mutation promotes lipid accumulation and NAFLD progression via increased localization on the hepatocyte surface.

JCI insight - 8 Aug 2022

Zhao Nan, Zhang Xiaoxun, Ding Jingjing, Pan Qiong, Zheng Ming-Hua, Liu Wen-Yue, Luo Gang, Qu Jiaquan, Li Mingqiao, Li Ling, Cheng Ying, Peng Ying, Xie Qiaoling, Wei Qinglin, Li Qiao, Zou Lingyun, Ouyang Xinshou, Cai Shi-Ying, Boyer James L, Chai Jin

Abstract excerpt

Genetic polymorphisms are associated with the development of nonalcoholic fatty liver disease (NAFLD). Semaphorin7a (Sema7a) deficiency in mouse peritoneal macrophages reduces fatty acid (FA) oxidation. Here, we identified 17 individuals with SEMA7A heterozygous mutations in 470 patients with biopsy-proven NAFLD. SEMA7A heterozygous mutations increased susceptibility to NAFLD, steatosis severity, and NAFLD...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35938531
DOI: 10.1172/jci.insight.154113
PMCID: PMC9462498

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