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High risk of fatty liver disease amplifies the alanine transaminase–lowering effect of a HSD17B13 variant

Hepatology Jan 29, 2020

Gellert-Kristensen H, et al. - Recently, a common loss-of-function variant in HSD17B13 (rs72613567:TA) was observed to confer protection against chronic liver disease development, experts aspired to explore if the variant protects from specific risk factors for liver disease. In 111,612 people from the Danish general population, including 497 with cirrhosis and 113 with hepatocellular carcinoma, they explored the connection of rs72613567 with plasma levels of alanine transaminase (ALT) and clinical liver disease and mortality. An association was found between HSD17B13 rs72613567:TA and stepwise lower levels of plasma ALT of up to 1.3 U/L in TA/TA homozygotes compared with T/T homozygotes. Prospective analyses showed the connections of TA-allele with up to 33% lower rates of liver-associated mortality in the general population, and with up to 49% decreased liver-related mortality in patients with cirrhosis. In the Danish general population, the ALT-lowering impact of HSD17B13 rs72613567:TA was shown to be amplified by the high risk of fatty liver disease.
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