Table 1.

Genetic loci associated with concentrations of liver enzymes in plasma at P < 1 × 10⁻⁸ in the GWAS

Region	Sentinel SNP	Position	Alleles (R/E)	EAF	Effect (%, 95% confidence interval)	P	Genes of interest
ALT
4q22	rs6834314	88,432,832	G/A	0.75	2.6 (1.9–3.4)	3.1 × 10−9	HSD17B13ne, MAPK10e
8q24	rs2954021	126,551,259	G/A	0.50	1.6 (0.6–2.6)	5.3 × 10−9	TRIB1n
10q24a	rs10883437	101,785,351	A/T	0.64	2.3 (1.4–3.1)	4.0 × 10−9	CPN1n
22q13a	rs738409	42,656,060	C/G	0.23	6.0 (5.0–7.0)	1.2 × 10−45	PNPLA3nc, SAMM50c
ALP
1p36.12a	rs1976403	21,639,040	A/C	0.40	3.6 (3.0–4.2)	1.8 × 10−50	ALPLo, NBPF3nce
2q24	rs16856332	169,548,820	G/T	0.96	3.9 (1.2–6.7)	1.6 × 10−9	ABCB11ng
6p22a	rs1883415	24,599,454	A/C	0.33	3.1 (2.5–3.7)	5.6 × 10−26	ALDH5A1e, GPLD1nc
8p23	rs6984305	9,215,678	T/A	0.11	2.7 (1.1–4.4)	2.1 × 10−10	PPP1R3Bne
8q24	rs2954021	126,551,259	G/A	0.50	1.4 (0.5–2.3)	2.3 × 10−13	TRIB1n
9q21	rs10819937	103,263,054	G/C	0.17	2.5 (1.4–3.6)	1.0 × 10−9	ALDOBo, C9orf125n
9q34a	rs579459	135,143,989	C/T	0.80	8.8 (7.4–10.2)	2.6 × 10−123	ABOn
10q21a	rs7923609	64,803,828	A/G	0.50	2.2 (1.7–2.7)	5.9 × 10−23	JMJD1Cnce, NRBF2e
11q12	rs174601	61,379,716	C/T	0.35	1.7 (0.8–2.6)	2.6 × 10−9	C11orf10e, FADS1e, FADS2ne
11q.24	rs2236653	125,788,995	C/T	0.42	1.5 (0.6–2.5)	1.8 × 10−9	ST3GAL4n
16q22	rs7186908	70,777,874	G/C	0.24	2.0 (1.1–2.9)	4.8 × 10−9	HPRe, PMFBP1n
17p13	rs314253	7,032,374	T/C	0.33	2.1 (1.5–2.8)	8.4 × 10−12	ASGR1o, DLG4n
19q13a	rs281377	53,898,415	C/T	0.43	1.8 (0.8–2.8)	1.1 × 10−15	FUT2nc
20p11	rs7267979	25,246,087	A/G	0.57	1.5 (0.9–2.0)	7.4 × 10−10	ABHD12ne, GINS1ce, PYGBo
GGT
1p36.13	rs1497406	16,377,907	A/G	0.56	3.8 (2.7–4.8)	2.8 × 10−19	RSG1e, EPHA2ne
1p22	rs12145922	88,918,822	C/A	0.61	2.8 (2.2–3.4)	3.8 × 10−11	CCBL2e, PKN2n
1p13	rs1335645	111,485,799	G/A	0.88	4.3 (3.5–5.2)	7.3 × 10−9	CEPT1ne, DENND2De
1q21	rs10908458	153,393,572	C/T	0.58	3.7 (3.1–4.2)	1.7 × 10−15	DPM3n, EFNA1ce, PKLRo
2p23	rs1260326	27,584,444	C/T	0.38	3.2 (2.4–4.0)	3.9 × 10−13	C2orf16e, GCKRnc
2q12	rs13030978	191,825,483	C/T	0.32	3.7 (2.8–4.6)	1.1 × 10−11	MYO1Bne, STAT4e
2q37	rs2140773	233,221,419	C/A	0.61	2.9 (2.3–3.5)	1.1 × 10−9	EFHD1ne, LOC100129166c
3q26	rs10513686	172,208,236	G/A	0.14	4.9 (4.0–5.7)	6.1 × 10−11	SLC2A2nc
4q31	rs4547811	147,014,071	T/C	0.18	6.4 (5.0–7.9)	2.5 × 10−27	ZNF827n
5p15	rs6888304	31,056,278	G/A	0.74	2.7 (2.0–3.5)	1.2 × 10−9	CDH6n
5q11	rs4074793	52,228,882	A/G	0.07	5.5 (3.3–7.7)	3.4 × 10−10	ITGA1n
6p12	rs9296736	54,032,656	C/T	0.31	3.0 (2.1–4.0)	2.6 × 10−9	MLIPne
7q11	rs17145750	72,664,314	T/C	0.86	4.5 (2.9–6.3)	2.9 × 10−9	MLXIPLnce
10q23	rs754466	79,350,440	A/T	0.24	3.5 (2.2–4.8)	6.4 × 10−10	DLG5n
12q24a	rs7310409	119,909,244	A/G	0.59	6.8 (5.7–7.8)	7.0 × 10−45	HNF1Anc, C12orf27e
14q32	rs944002	102,642,568	A/G	0.21	6.3 (4.9–7.7)	5.8 × 10−29	C14orf73nc
15q21	rs339969	58,670,573	C/A	0.62	4.5 (3.9–5.1)	6.6 × 10−20	RORAn
15q23	rs8038465	71,765,390	C/T	0.39	2.4 (1.8–3.0)	1.4 × 10−9	CD276ne
16q23	rs4581712	79,055,102	C/A	0.27	3.2 (2.5–3.9)	3.1 × 10−9	DYNLRB2n
17q24	rs9913711	67,609,756	G/C	0.65	2.4 (1.8–3.0)	1.3 × 10−9	FLJ37644e, SOX9n
18q21.31	rs12968116	53,473,500	T/C	0.87	4.8 (2.8–6.7)	8.9 × 10−10	ATP8B1ncg
18q21.32	rs4503880	54,235,034	C/T	0.21	3.6 (2.5–4.7)	3.0 × 10−12	NEDD4Ln
19q13a	rs516246	53,897,984	C/T	0.47	2.3 (1.8–2.9)	7.6 × 10−10	FUT2nc
22q11.21	rs1076540	16,819,958	T/C	0.78	4.8 (3.5–6.1)	9.6 × 10−17	MICAL3ne
22q11.23	rs2739330	22,625,286	C/T	0.42	3.7 (2.7–4.6)	1.7 × 10−9	DDTe, DDTLe, GSTT1e, GSTT2Bn, MIFe
22q11.23a	rs2073398	23,329,104	C/G	0.34	12.3 (10.9–13.7)	1.1 × 10−109	GGT1ne, GGTLC2e

Alleles are given as the reference (R) allele/effect (E). EAF, effect allele frequency; effect is change in concentration of liver enzyme in plasma per copy of effect allele.

^aPreviously reported associations. Annotation for genes of interest:

ⁿnearest;

^eexpression QTL;

^ccoding SNP;

^gGRAIL;

^oknown biology.