. 2020 May 7;51(12):1305–1320. doi: 10.1111/apt.15738

Table 1.

Published allele frequencies and odds ratios for the principal genetic variants associated with NAFLD, NASH and HCC

Gene	SNP	Minor allele frequency, 1000G (max)	NAFLD allelic odds ratio ^a (95% CI)	NASH allelic odds ratio ^a (95% CI)	HCC allelic odds ratio ^a (95% CI)
PNPLA3	rs738409 c.444 C > G p.I148M	0.26 (0.72)33	1.91 (1.64, 2.21)24	2.54 (2.03, 3.16)24	5.9 (1.5, 23.8) ^b ^, 26 2.68 (1.01, 7.26) ^c ^, 25
TM6SF2	rs58542926 c.499 G > A p.E167K	0.07 (0.16)41	1.82 (1.59, 2.08) ^d ^, 39	1.37 (1.11, 1.72) ^d , ^e ^, 39	1.72 (1.27, 2.38) ^d , ^f ^, 39
GCKR	rs1260326 c.1337 C > T p.P446L	0.29 (0.59)46	1.38 (1.25, 1.53)44 1.49 (1.09, 2.05)45	1.55 (1.10, 2.17)45	1.84 (1.23, 2.75) ^f ^, 44
MBOAT7/TMC4	rs641738 g.54173068 C > T/ c.50 G > A p.G17E	0.37 (0.63)51	1.42 (1.07, 1.91) ^g ^, 47	1.18 (1.00, 1.40) ^g ^, 47	2.10 (1.33, 3.31) ^h ^, 48
HSD17B13	rs72613567 ⁱ c.704/812 + 2dup (usually referred to as T to TA insertion) ^j	0.18 (0.40)58	0.84 (0.78, 0.91) ^k ^, 52	0.86 (0.72, 1.02) ^k ^, 52	0.67 (0.45, 1.00) ^k , ^l ^, ¹ , ⁵² 0.77 (0.64, 0.93) ^m ^, 56

Abbreviations: 1000G, 1000 Genomes Project phase 3; CI, confidence interval; HCC, hepatocellular carcinoma; NAFLD, non‐alcoholic fatty liver disease; NASH, non‐alcoholic steatohepatitis; NR, not reported; SNP, single‐nucleotide polymorphism.

^{^a}

Note that odds ratios are from different cohorts and are not comparable across variants or diseases.

^{^b}

In people with obesity; liver fibrosis not assessed.

^{^c}

In patients with NAFLD (76.2% with NASH and 34.4% with fibrosis stage 3 and 4).

^{^d}

Calculated as reciprocal of published odds ratio for the protective allele. ³⁹

^{^e}

NASH cirrhosis.

^{^f}

Severity of liver fibrosis not assessed.

^{^g}

Liver biopsy cohort.

^{^h}

UK/Italian cohort without advanced fibrosis/cirrhosis.

^ⁱ

Other liver disease‐associated SNPs in HSD17B13 are rs72613567 (linkage with rs72613567), rs143404524 and rs62305723.

^{^j}

TA to TAA insertion on the chromosomal forward strand is a TA to TTA duplication in HDS17B13 on the opposite strand, affecting introns of two transcripts.

^{^k}

Data shown from Geisinger Health System cohorts; generally similar results in Dallas Heart Study cohort.

^{^l}

Severity of liver fibrosis not assessed.

^{^m}

Adjusted for age, sex, fibrosis stage and aetiology.