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Table 2 Summary of blood eQTL overlap with each brain eQTL study

From: Overlap of expression Quantitative Trait Loci (eQTL) in human brain and blood

Study

Number of overlapping eQTL

Percentage of genes in blood with overlapping eQTL in brain study

Percentage of genes in brain study with overlapping eQTL in blood

Mean number of overlapping SNPs per gene

Mean R2(blood)1

Mean R2(brain study)1

Mean distance (kb) of overlapping SNP from probe1

CIS

Colantuoni et al. [17]

94 (12)

1.9 (0.2)

20.1 (2)

5.5

0.14

Data unavailable

18.6

Gibbs et al. [12]

697 (34)

14.2 (0.6)

70 (3.4)

15.7

0.19

0.32

62.8

Heinzen et al. [7]

7 (0)

0.15 (0)

13 (0)

11.1

0.11

0.14

48.1

Kim et al. [18]

66 (8)

1.3 (0.1)

10 (1.2)

7.6

0.15

Data unavailable

39.7

Liu et al. [19]

59 (7)

1.2 (0.1)

5.7 (0.8)

4.8

0.10

0.15

25.1

Myers et al. [22]

507 (49)

10.3 (1)

17 (1.7)

7.1

0.13

Data unavailable

18.5

Webster et al. [20]

133 (17)

2.7 (0.3)

18 (2.2)

3.4

0.12

0.19 AD

69.0

0.15 Controls

Zou et al. [21]

156 (16)

3.1 (0.3)

23 (2.3)

5.6

0.13

0.223

26.12

CIS AND TRANS

 

Gibbs et al. [12]

712 (38)

14.3 (0.6)

0.71 (3.4)

15.8

0.18

0.32

 

Kim et al. [18]

69 (8)

1.4 (0.1)

10.6 (1.2)

7.8

0.14

Data unavailable

 

Liu et al. [19]

61 (7)

1.2 (0.1)

5.7 (0.8)

4.3

0.11

0.15

 

Myers et al. [22]

542 (54)

10.3 (1)

18 (1.7)

7.6

0.14

Data unavailable

 

Webster et al. [20]

142 (19)

2.7 (0.3)

19 (2.2)

3.1

0.14

0.18 AD

 

0.13 Controls

  1. 1Only for identical SNP:Gene associations.
  2. 2Cis = ± 100 kb.
  3. 3Only 139/514 (27.0%) of SNP:Gene associations had R2 data.
  4. R2 is the proportion of transcript level variance explained by the overlapping SNP.
  5. AD – Late-onset Alzheimer’s disease.
  6. Numbers shown in brackets indicate contribution of proxy SNPs to total value. The numbers in parentheses are those found using proxy SNPs.