. 2021 Apr 7;38(5):2130–2158. doi: 10.1007/s12325-021-01690-1

Table 2.

Genetic polymorphisms associated with the risk of development and/or progression of NAFLD/NASH

Gene	Variant	Impact on protein	Effect of the variant	Allele frequency				Effect size	Effect of the variant
Gene	Variant	Impact on protein	Effect of the variant	Europeans	Hispanics	Asians	Africans	Effect size	Effect of the variant
PNPLA3	rs738409C>G	I148M	Complex: loss plus gain of function	0.23	0.57	0.38	0.14	+++	Complex: loss plus gain of function
TM6SF2	rs58542926C>T	E167K	Loss of function	0.08	0.03	0.07	0.04	+++	Loss of function
GCKR	rs1260326T>C	P446L	Loss of function	0.60	0.67	0.50	0.86	+	Loss of function
MBOAT7	rs641738C>T	Linked to 3′-UTR	Reduced expression	0.42	0.33	0.24	0.34	+	Reduced expression
HSD17B13	rs72613567T>TA	Alternate splicing	Loss of function	0.27	0.09	0.34	0.06	++	Loss of function
HSD17B13	rs62305723G>A	P260S	Loss of function	0.07	0.02	0.34	0.01	++	Loss of function
IL28B (IFNL3/4)	rs368234815TT>dG	Alternate protein translation site	Alternative protein	0.27	0.09	0.34	0.06	+	Alternative protein
MERTK	rs4374383G>A	Noncoding variant	Reduced expression	0.37	0.37	0.73	0.47	+	Reduced expression

NAFLD non-alcoholic fatty liver disease, NASH non-alcoholic steatohepatitis

Adapted from ref. [64]