Nuclear Receptor Variants in Liver Disease

Table 1

Single nucleotide polymorphisms (SNPs) associated with liver disease.

Gene	SNP	rs number	Disease	OR (95% CI)	𝑃-value	Cohort (controls)	Population	Reference
HNF4a (NR2A1)	Q268X	rs6093980	MODY-1	N/A	N/A	>360	R-W pedigree	[6]
	Y16X	N/A		N/A	N/A	108	UK	[9]
	S34X
	R127W
	D206Y
	E276Q
	R303H; I314F; L332P
	M364R
	c. IVS5nt+1G>A
	c.IVS4nt-2A>G
	T(3;20)
	V393I	N/A	NIDDM	N/A	N/A	N/A	F-40 pedigree	[8]
	T130I	N/A	T2D	1.26 (1.01–1.57)	0.04	1,466 (4,520)	Danish	[10]
	V255M	N/A	Decreasing fasting serum C-peptide levels	1.0 (0.28–3.65)	1.0
FXR (NR1H4)	−20,647T>G	N/A	Gallstones	0.42 (0.17–1.01)	0.053	77 (74)	Mexican	[34]
	−1G>T	rs56163822		0.25 (0.07–0.95)	0.042	75 (70)
	IVS7-31A>T	rs7138843		0.47 (0.22–1.01)	0.053	77 (88)
	−1G>T	rs56163822	ICP	0.92 (0.35–2.44)	0.96	342 (349)	British/Swedish	[35]
	M173T	N/A		3.2 (1.1–11.2)	0.02
VDR (NR1I1)	c.1025-49G>T (ApaI)	rs7975232	AIH	0.72 (0.40–1.30)	0.27	123 (214)	Caucasian	[22]
	Intron 8 (BsmI)	rs1544410		0.63 (0.37–1.06)	0.08
	Exon 2 (FokI)	rs1073581		0.5 (0.28–0.92)	0.02
	I352I (TaqI)	rs731236		1.27 (0.69–2.33)	0.43
	c.1025-49G>T (ApaI)	rs7975232	PBC	1.85 (1.02–3.35)	0.04	74 (214)
	Intron 8 (BsmI)	rs1544410		2.1 (1.22–3.62)	0.006
	Exon 2 (FokI)	rs1073581		0.55 (0.27–1.12)	0.09
	I352I (TaqI)	rs731236		1.16 (0.56–2.39)	0.69
	c.1025-49G>T (ApaI)	rs7975232	AIH	0.82 (0.42–1.58)	0,55	49	Chinese	[20]
	Intron 8 (BsmI)	rs1544410		1.44 (0.59–3.51)	0.42
	Exon 2 (FokI)	rs1073581		2.18 (1.07–4.43)	0.019
	I352I (TaqI)	rs731236		0.00 (0.00)	0.28
	c.1025-49G>T (ApaI)	rs7975232	PBC	0.90 (0.49–1.64)	0.727	58
	Intron 8 (BsmI)	rs1544410		4.41 (1.29–15.02)	0.01
	Exon 2 (FokI)	rs1073581		1.30 (0.63–2.68)	0.05
	I352I (TaqI)	rs731236		0.00 (0.00)	0.224
	c.1025-49G>T (ApaI)	rs7975232	PBC	0.71 (0.47–1.08)	0.133	195 (179)	Japanese	[21]
	Intron 8 (BsmI)	rs1544410		0.71 (0.44–1.16)	0.179
	I352I (TaqI)	rs731236		1.02 (1.00–1.04)	0.109
	c.1025-49G>T (ApaI)	rs7975232		1.02 (0.52–1.98)	1.000	139 (156)	Italian
	Intron 8 (BsmI)	rs1544410		0.33 (0.12–0.92)	0.039
	I352I (TaqI)	rs731236		0.94 (0.51–1.75)	0.876
	c.1025-49G>T (ApaI)	rs7975232	HBV	3.3 (1–11)	0.05	214 (408)		[23]
	c.1025-49G>T (ApaI)	rs7975232	HCC	0.852 (0.345–2.113)	n.s.	80 (160)	Caucasian	[30]
	Intron 8 (BsmI)	rs1544410		1.711 (0.766–3.813)	n.s.
	Exon 2 (FokI)	rs1073581		1.338 (0.605–2.968)	n.s.
	I352I (TaqI)	rs731236		0.491 (0.212–1.141)	0.09
PPARγ (NR1C3)	P12A	rs1805192	T2D	0.78 (0.59–1.05)	0.045	333	Scandinavian	[40]
				1.37	0.04	2,126 (1,124)	French	[38]
				0.12 (0.03–0.52)	0.005	532 (386)	Asian Sikh	[39]
	C161T	rs121909245	Obesity	2.33 (1.03–5.29)	0.042	292 (371)	Australian	[37]
			NAFLD	4.606 (3.744–10.263)	0.003	96 (96)	Chinese	[46]
LXRα (NR1H3)	N/A	rs2167079	HDL cholesterol level	N/A	5.13×10^−8	4763	Northern Finland Birth cohort 1966	[78]
		rs7120118			3.57×10^−8
AR (NR3C4)	N/A	rs5031002	LDL cholesterol level	N/A	2.37×10^−7
PXR (NR1I2)	Intronic	rs7643645	NAFLD	3.48 (1.25–10.62)	0.008	188	Argentine	[54]
		rs2461823		N/A	0.039
	−25385	rs3814055	DILI	3.37 (1.55–7.30)	0.0023	51 (64)	European	[74]

Abbreviations: OR: odds ratio; N/A: not annotated; n.s.: not significant.