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. 2014 May 29;5(2):100–111.

Table 2.

Gene expression influenced by SNPs in genes in the pathway

Genotype Gene Expression
AKT1 IKBKB MTOR NFKB1 PDK1 PIK3CA PRKAG2 PTEN RPS6KB1 RPS6KB2 STK11 TSC2 VEGFA
Gene SNP (Model) βh p β p β p β p β p β p β p β p β p β p β p β p β p
AKT1 rs1130214 (R) -0.45 0.04
MTOR rs2295080 (D) 0.33 0.04
NFKB1 rs13117745a -0.25 <0.01
rs1801b (R) 0.44 0.03 0.28 0.02 0.29 0.02
rs3821958b,c (R) 0.19 0.04
rs3774964b,c (R) 0.22 0.02
rs12509517b -0.17 0.05 -0.27 0.02
rs3755867b,c (R) 0.41 0.03
rs4648090 -0.21 0.02
rs4648110a -0.24 <.01
rs4648127 (D) 0.32 0.03 0.32 0.05
PIK3CA rs7644648 (D) 0.36 0.03 0.35 0.02
rs7651265 (D) 0.43 0.02 0.43 0.01 0.25 0.04
rs1607237 (R) -0.48 0.04
PRKAG2 rs1362236 -0.32 0.03 0.27 0.05
rs1001117 (D) -0.23 0.01 -0.22 0.03
rs6965771 (D) -0.38 0.02 -0.43 0.01 -0.30 <0.01 -0.39 0.01 -0.29 <0.01 -0.41 0.03 -0.29 0.01 -0.36 <0.01 -0.31 0.04 -0.31 0.05
rs7784818 (R) -0.34 0.02 -0.37 0.04 -0.34 0.04 -0.39 0.05 -0.25 0.03 -0.28 0.03 -0.46 0.01
rs9648724 0.37 0.01 0.17 0.05
PTEN rs1903858e (D) -0.16 0.05 -0.20 0.02
rs2735343e (D) -0.18 0.03
RPS6KB1 rs8071475 (R) -0.54 <0.01
rs1292034f -0.16 0.04
STK11 rs8111699 (R) 0.46 0.04
rs741765g (R) 0.86 0.03 0.62 0.01 0.83 <0.01 1.02 0.05 0.57 0.05
TSC2 rs3087631 (R) -0.65 0.01 -0.74 0.01 -0.59 <.01 -0.78 0.00 -0.51 <0.01 -0.47 <0.01 -1.16 <.01 -0.60 0.02
VEGFA rs3025030 -0.33 0.02
rs3025033 -0.26 0.04 -0.18 0.01
a

r2=0.81 among white population, 0.66 among black population.

b

Pairwise r2 values ranging from 0.56 to 0.88 among white population.

c

Pairwise r2 values ranging from 0.59 to 0.84 among black population.

No homozygote variants.

e

r2=0.96 among white population, 1.00 among black population.

f

Out of HWE among white population (p=0.0004).

g

Only two homozygote rare variants.

h

β coefficients and corresponding p values for models adjusted for age, admixture, and sex; significant associations after adjustment for multiple comparisons in bold fond.