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. Author manuscript; available in PMC: 2018 Apr 30.
Published in final edited form as: Nat Genet. 2017 Oct 30;49(12):1758–1766. doi: 10.1038/ng.3977

Table 2.

Impact of genes involved in hepatic production of triglyceride-rich lipoproteins (PNPLA3, TM6SF2) versus lipolysis pathway genes (LPL, ANGPTL4) on related metabolic traits - blood lipids, fatty liver, type 2 diabetes, and coronary artery disease.

Gene LPL ANGPTL4 PNPLA3 TM6SF2
Variant p.Ser474Ter p.Glu40Lys p.Ile148Met p.Glu167Lys
Effect Allele
Frequency		 Ter
10%		 Lys
2%		 Met
23%		 Lys
7%
Blood triglycerides
Effect Direction ↓ ↓ ↓ ↓
Beta
(CI)
P 		−0.18
(−0.19,−0.17)
P < 1 × 10−323 		−0.27
(−0.29,−0.25)
P = 4 × 10−175 		−0.018
(−0.024,−0.012)
P = 4 × 10−9 		−0.12
(−0.13,−0.11)
P = 4 × 10−125
Blood LDL cholesterol
Effect Direction – ↓ ↓ ↓
Beta
(CI)
P		 0.013
(0.0052,0.021)
P = 0.005		 −0.004
(−0.024,0.016)
P = 0.70		 −0.018
(−0.024,−0.012)
P = 1 × 10−8 		−0.103
(−0.11,−0.093)
P = 7 × 10−93
Fatty liver
Effect Direction – – ↑ ↑
Beta*
(CI)
P		 0.026
(−0.035,0.087)
P = 0.41		 0.112
(−0.021,0.25)
P = 0.10		 −0.25
(−0.29,−0.2)
P = 2 × 10−30 		−0.25
(−0.32,−0.18)
P = 5 × 10−12
Type 2 diabetes
Effect Direction ↓ ↓ ↑ ↑
OR
(CI)
P		 0.95
(0.93,0.97)
P = 7 × 10−9 		0.91
(0.83,0.99)
P = 1 × 10−4 		1.04
(1.03,1.05)
P = 2 × 10−10 		1.07
(1.05,1.09)
P = 5 × 10−12
Coronary artery disease
Effect Direction ↓ ↓ ↓ ↓
OR
(CI)
P		 0.93
(0.9,0.96)
P = 4 × 10−7 		0.85
(0.8,0.9)
P = 2 × 10−10 		0.96
(0.94,0.97)
P = 4 × 10−8 		0.95
(0.93,0.98)
P = 3 × 10−4
*

A negative beta reflects liver attenuation on computed tomography which is indicative of higher liver fat

Association results for lipids are derived from present study

Association results for type 2 diabetes are from41

Association results for coronary artery disease are from42