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. Author manuscript; available in PMC: 2015 Aug 10.
Published in final edited form as: Circulation. 2014 Dec 22;131(6):536–549. doi: 10.1161/CIRCULATIONAHA.114.010696

Table 4.

Mediation Test Results

GWAS-
Associated
Phenotype
Phenotype-Associated
SNP From GWAS
(Mapped Gene)
Expressed Gene
Associated With
SNP (cis, trans)
SNP-Gene
R2
SNP-Gene
P Value
Gene-
Phenotype
R2
Gene-
Phenotype
P Value
SNP-Phenotype β
(Controlling for
Expression)
Proportion of Mediation of
SNP-Phenotype Association
by Expression, %
HDL-C rs7120118
(NR1H3)
DDB2
(cis)
0.0069 1.7×10−9 0.0033 9.1×10−7 0.17 18.0
MADD
(cis)
0.015 2.6×10−19 0.0055 1.9×10−5 0.22 24.0
rs174546/rs174547/
rs174548
FADS1
(cis)
0.046 9.4×10−56 0.0037 3.1 ×10−8 −0.45 45.8
(FADS1) SREBF2
(trans)
0.0054 8.9×10−8 0.015 2.2×10−24 −0.26 21.1
LDLR
(trans)
0.005 2.9×10−7 0.0084 1.1×1012 −0.21 18.6
rs964184
(ZNF259)
PPM1B
(trans)
0.0051 2.3×10−7 0.0017 6.1 ×10−5 −0.073 3.7
YPEL5
(trans)
0.0056 6.1 ×10−8 0.0085 1.5×10−12 −0.13 7.0
rs4759375
(SBN01)
CDK2AP1
(cis)
0.0047 6.1 ×10−7 0.0074 1.6×10−6 0.26 10.1
rs3136441
(F2)
DDB2
(cis)
0.012 1.1×10−15 0.0033 9.1 ×10−7 0.30 32.4
s2271293/rs16942887
(NUTF2/PSKH1)
DPEP2
(cis)
0.0061 1.3×10−8 0.015 5.9×10−16 0.41 23.2
SLC12A4
(cis)
0.0046 9.2×10−8 0.0035 4.6×10−4 0.14 8.3
HDL-C rs255049
(DPEP3)
DPEP2
(cis)
0.0084 2.5×10−11 0.015 5.9×10−16 0.38 43.7
SLC12A4
(cis)
0.0045 1.2×10−6 0.0035 4.6×10−4 0.11 13.3
LDL-C rs964184
(ZNF259)
PCSK7
(cis)
0.0038 7.0×10−6 0.0040 3.3×10−4 0.15 7.5
rs174546
(FADS1)
LDLR
(trans)
0.005 2.9×10−7 0.0034 9.6×10−13 −0.35 28.5
FADS1
(cis)
0.046 9.4×10−56 0.0018 4.4×10−7 −0.72 58.6
Triglycerides rs10761731
(JMJD1C)
CXCL5
(trans)
0.0061 1.4×10−8 0.012 2.9×10−15 −0.0063 17.0
ITGB3
(trans)
0.0062 1.2×10−8 0.011 1.3×10−11 −0.0042 11.8
AQ10
(trans)
0.0067 2.9×10−9 0.0044 3.3×10−5 −0.0046 12.8
ITGA2B
(trans)
0.0051 2.4×10−7 0.02 7.5×10−6 −0.0063 16.6
CLU
(trans)
0.005 2.7×10−7 0.022 9.9×10−23 −0.0066 17.6
rs174546/rs174558
(FADS1)
FADS1
(cis)
0.046 9.4×10−56 0.0017 2.7×10−6 0.011 47.4
Triglycerides rs174546/rs174558
(FADS1)
SREBF2
(trans)
0.0054 8.9×10−8 0.017 1.1×10−26 0.0074 27.6
LDLR
(trans)
0.005 2.9×10−7 0.0024 2.8×10−7 0.0038 15.1
rs4938303
(RPL15P15, BUD13)
PCSK7
(cis)
0.0041 3.64×10−6 0.0047 2.6×10−11 0.0035 5.0
rs651821
(APOA5)
SREBF2
(trans)
0.0047 6.4×10−7 0.017 1.1×10−26 0.014 9.8
rs964184
(ZNF259)
PPM1B
(trans)
0.0051 2.26×10−7 0.0087 3.0×10−19 0.0055 4.4
YPEL5
(trans)
0.0056 6.11×10−8 0.027 1.3×10−38 0.0071 5.7

GWAS indicates genome-wide association studies; HDL-C, high-density lipoprotein cholesterol; LDL, low-density lipoprotein cholesterol; R2, percent variance explained; SNP, single nucleotide polymorphism; and /, SNP in linkage disequilibrium (R2 > 0.8).