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The ATG16L1 gene variant rs2241880 (p.T300A) is associated with susceptibility to HCC in patients with cirrhosis.
Philipp A Reuken
1 ,
Philipp Lutz
2
,
3 ,
Markus Casper
4 ,
Eihab Al-Herwi
1 ,
Sven Stengel
1 ,
Ulrich Spengler
2
,
3 ,
Andreas Stallmach
1 ,
Frank Lammert
4 ,
Hans Dieter Nischalke
2
,
3 ,
Tony Bruns
1
,
5
December 2019
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Abstract
Protein and organelle turnover by autophagy is a key component to maintain cellular homeostasis. Loss of the autophagy protein ATG16L1 is associated with reduced bacterial killing and aberrant interleukin-1β production, perpetuating inflammation and carcinogenesis. Here we hypothesized that the functional p.T300A gene variant in ATG16L1 is associated with an increased risk for hepatocellular carcinoma (HCC) in cirrhosis.