Journal of Lipids / 2012 / Article / Tab 1

Review Article

Nuclear Receptor Variants in Liver Disease

Table 1

Single nucleotide polymorphisms (SNPs) associated with liver disease.

GeneSNPrs numberDiseaseOR (95% CI) 𝑃 -valueCohort (controls)PopulationReference

HNF4a (NR2A1)Q268Xrs6093980MODY-1N/AN/A>360R-W pedigree[6]
Y16XN/AN/AN/A108UK[9]
S34X
R127W
D206Y
E276Q
R303H
I314F
L332P
M364R
c. IVS5nt+1G>A
c.IVS4nt-2A>G
T(3;20)
V393IN/ANIDDMN/AN/AN/AF-40 pedigree[8]
T130IN/AT2D1.26 (1.01–1.57)0.041,466 (4,520)Danish[10]
V255MN/ADecreasing fasting serum C-peptide levels1.0 (0.28–3.65)1.0

FXR (NR1H4)βˆ’20,647T>GN/AGallstones0.42 (0.17–1.01)0.05377 (74)Mexican[34]
βˆ’1G>Trs561638220.25 (0.07–0.95)0.04275 (70)
IVS7-31A>Trs71388430.47 (0.22–1.01)0.05377 (88)
βˆ’1G>Trs56163822ICP0.92 (0.35–2.44)0.96342 (349)British/Swedish [35]
M173TN/A3.2 (1.1–11.2)0.02

VDR (NR1I1)c.1025-49G>T (ApaI)rs7975232AIH0.72 (0.40–1.30)0.27123 (214)Caucasian [22]
Intron 8 (BsmI)rs15444100.63 (0.37–1.06)0.08
Exon 2 (FokI)rs10735810.5 (0.28–0.92)0.02
I352I (TaqI)rs7312361.27 (0.69–2.33)0.43
c.1025-49G>T (ApaI)rs7975232PBC1.85 (1.02–3.35)0.0474 (214)
Intron 8 (BsmI)rs15444102.1 (1.22–3.62)0.006
Exon 2 (FokI)rs10735810.55 (0.27–1.12)0.09
I352I (TaqI)rs7312361.16 (0.56–2.39)0.69
c.1025-49G>T (ApaI)rs7975232AIH0.82 (0.42–1.58)0,5549Chinese[20]
Intron 8 (BsmI)rs15444101.44 (0.59–3.51)0.42
Exon 2 (FokI)rs10735812.18 (1.07–4.43)0.019
I352I (TaqI)rs7312360.00 (0.00)0.28
c.1025-49G>T (ApaI)rs7975232PBC0.90 (0.49–1.64)0.72758
Intron 8 (BsmI)rs15444104.41 (1.29–15.02)0.01
Exon 2 (FokI)rs10735811.30 (0.63–2.68)0.05
I352I (TaqI)rs7312360.00 (0.00)0.224
c.1025-49G>T (ApaI)rs7975232PBC0.71 (0.47–1.08)0.133195 (179)Japanese[21]
Intron 8 (BsmI)rs15444100.71 (0.44–1.16)0.179
I352I (TaqI)rs7312361.02 (1.00–1.04)0.109
c.1025-49G>T (ApaI)rs79752321.02 (0.52–1.98)1.000139 (156)Italian
Intron 8 (BsmI)rs15444100.33 (0.12–0.92)0.039
I352I (TaqI)rs7312360.94 (0.51–1.75)0.876
c.1025-49G>T (ApaI)rs7975232HBV3.3 (1–11)0.05214 (408) [23]
c.1025-49G>T (ApaI)rs7975232HCC0.852 (0.345–2.113)n.s.80 (160)Caucasian[30]
Intron 8 (BsmI)rs15444101.711 (0.766–3.813)n.s.
Exon 2 (FokI)rs10735811.338 (0.605–2.968)n.s.
I352I (TaqI)rs7312360.491 (0.212–1.141)0.09

PPARΞ³ (NR1C3)P12Ars1805192T2D0.78 (0.59–1.05)0.045333Scandinavian[40]
1.370.042,126 (1,124)French[38]
0.12 (0.03–0.52)0.005532 (386)Asian Sikh[39]
C161Trs121909245Obesity2.33 (1.03–5.29)0.042292 (371)Australian[37]
NAFLD4.606 (3.744–10.263)0.00396 (96)Chinese[46]

LXRΞ± (NR1H3)N/Ars2167079HDL cholesterol levelN/A 5 . 1 3 Γ— 1 0 βˆ’ 8 4763Northern Finland Birth cohort 1966[78]
rs7120118 3 . 5 7 Γ— 1 0 βˆ’ 8
AR (NR3C4)N/Ars5031002LDL cholesterol levelN/A 2 . 3 7 Γ— 1 0 βˆ’ 7

PXR (NR1I2)Intronicrs7643645NAFLD3.48 (1.25–10.62)0.008188Argentine[54]
rs2461823N/A0.039
βˆ’25385rs3814055DILI3.37 (1.55–7.30)0.002351 (64)European[74]

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

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