Article
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.
PLoS genetics - 1 Apr 2020
Emdin Connor A, Haas Mary E, Khera Amit V, Aragam Krishna, Chaffin Mark, Klarin Derek, Hindy George, Jiang Lan, Wei Wei-Qi, Feng Qiping, Karjalainen Juha, Havulinna Aki, Kiiskinen Tuomo, Bick Alexander, Ardissino Diego, Wilson James G, Schunkert Heribert, McPherson Ruth, Watkins Hugh, Elosua Roberto, Bown Matthew J, Samani Nilesh J, Baber Usman, Erdmann Jeanette, Gupta Namrata, Danesh John, Saleheen Danish, Chang Kyong-Mi, Vujkovic Marijana, Voight Ben, Damrauer Scott, Lynch Julie, Kaplan David, Serper Marina, Tsao Philip, Mercader Josep, Hanis Craig, Daly Mark, Denny Joshua, Gabriel Stacey, Kathiresan Sekar
Abstract excerpt
Analyzing 12,361 all-cause cirrhosis cases and 790,095 controls from eight cohorts, we identify a common missense variant in the Mitochondrial Amidoxime Reducing Component 1 gene (MARC1 p.A165T) that associates with protection from all-cause cirrhosis (OR 0.91, p = 2.3*10-11). This same variant also associates with lower levels of hepatic fat on computed tomographic imaging and lower odds of physician-diagnosed...
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