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©The Author(s) 2024.
World J Gastrointest Pathophysiol. Aug 22, 2024; 15(4): 93606
Published online Aug 22, 2024. doi: 10.4291/wjgp.v15.i4.93606
Published online Aug 22, 2024. doi: 10.4291/wjgp.v15.i4.93606
Table 2 List of common genetic variants with their effect and association[218]
Gene | Variant | Impact on protein | Effect of the variant | Allelic frequency Europeans | Hispanics | Asians | Africans | Effect size | Direction of association (Ancestral allele) | Fat | NASH | Fibrosis | HCC | Mortality | Response to the therpaies |
PNPLA3 | rs738409 C>G | I148M | Complex: Loss- plus gain-of-function | 0.23 | 0.57 | 0.38 | 0.14 | +++ | Up | + | + | + | + | + | + |
TM6SF2 | rs58542926 C>T | E167K | Loss-of-function | 0.08 | 0.03 | 0.07 | 0.04 | +++ | Up | + | + | + | + | + | |
GCKR | rs1260326 T>C | P446L | Loss-of-function | 0.6 | 0.67 | 0.5 | 0.86 | + | Up | + | + | + | + | ||
MBOAT7 | rs641738 C>T | Linked to 3'-UTR | Reduced expression | 0.42 | 0.33 | 0.24 | 0.34 | + | Up | + | + | + | + | ||
HSD17B13 | rs72613567 T>TA rs62305723 G>A | Alternate splicing P260S | Loss-of-function | 0.27 0.07 | 0.09 0.02 | 0.34 | 0.06 0.01 | ++ | Down | + | + | ||||
IL28B (IFNL3/4) | rs368234815 TT>dG | Alternate protein translation site | Alternative protein | 0.27 | 0.09 | 0.34 | 0.06 | + | Down | + | + | ||||
MERTK | rs4374383 G>A | Noncoding variant | Reduced expression | 0.37 | 0.37 | 0.73 | 0.47 | + | Down | + |
- Citation: Habib S. Team players in the pathogenesis of metabolic dysfunctions-associated steatotic liver disease: The basis of development of pharmacotherapy. World J Gastrointest Pathophysiol 2024; 15(4): 93606
- URL: https://www.wjgnet.com/2150-5330/full/v15/i4/93606.htm
- DOI: https://dx.doi.org/10.4291/wjgp.v15.i4.93606