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A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver...

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A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2403774447

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

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Full title

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

Author / Creator

Million Veteran Program , 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 and Kathiresan, Sekar

Publisher

United States: Public Library of Science

Journal title

PLoS genetics, 2020-04, Vol.16 (4), p.e1008629

Language

English

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Articles

Publication information

Publisher

United States: Public Library of Science

Subjects

Subjects and topics

More information

Scope and Contents

Contents

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 co...

Alternative Titles

Full title

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

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Author / Creator

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Record Identifier

TN_cdi_plos_journals_2403774447

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2403774447

Other Identifiers

ISSN

1553-7404,1553-7390

E-ISSN

1553-7404

DOI

10.1371/journal.pgen.1008629

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