A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease
Connor A Emdin,
Amit V. Khera,
Krishna G. Aragam,
Mark D. Chaffin,
Tuomo T. J. Kiiskinen,
James G Wilson,
Matthew J Bown,
Nilesh J. Samani,
Posted 31 Mar 2019
bioRxiv DOI: 10.1101/594523 (published DOI: 10.1371/journal.pgen.1008629)
Posted 31 Mar 2019
Analyzing 5770 all-cause cirrhosis cases and 572,850 controls from seven cohorts, we identify a missense variant in the Mitochondrial Amidoxime Reducing Component 1 gene (MARC1 p.A165T) that associates with protection from all-cause cirrhosis (OR 0.88, p=2.1*10-8). This same variant also associates with lower levels of hepatic fat on computed tomographic imaging and lower odds of physician-diagnosed fatty liver as well as lower blood levels of alanine transaminase (-0.012 SD, 1.4*10-8), alkaline phosphatase (-0.019 SD, 6.6*10-9), total cholesterol (-0.037 SD, p=1*10-18) and LDL cholesterol (-0.035 SD, p=7.3*10-16). Carriers of rare protein-truncating variants in MARC1 had lower liver enzyme levels, cholesterol levels, and reduced odds of liver disease (OR 0.19, p= 0.04) suggesting that deficiency of the MARC1 enzyme protects against cirrhosis.
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