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

Hepatology Aug 16, 2019

Gellert-Kristensen H, et al. - Recently, a common loss-of-function variant in HSD17B13 (rs72613567:TA) was found to confer protection against chronic liver disease development, researchers intended to clarify 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 examined the link of rs72613567 with plasma levels of alanine transaminase (ALT) and clinical liver disease and mortality. They noted an association of HSD17B13 rs72613567:TA with stepwise lower levels of plasma ALT of up to 1.3 U/L in TA/TA homozygotes vs T/T homozygotes. Prospective analyses revealed the links 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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