Table 1 Proportion of genetic variance attributable to different genomic regions for height (HT), body mass index (BMI), type-2 diabetes (T2D) and cardiovascular disease (CAD).

From: Probabilistic inference of the genetic architecture underlying functional enrichment of complex traits

Group

Trait

BayesRR-RC

RHE-mca

sLDSCa

SumHera

  

Posterior mean (95% CI)

\({h}_{{{{{{\mathrm{obs}}}}}}}^{2}\) (se) %

\({h}_{{{{{{\mathrm{obs}}}}}}}^{2}\) (se) %

\({h}_{{{{{{\mathrm{obs}}}}}}}^{2}\) (se) %

Variance attributable to SNP markers genome-wide

HT

57.66 (56.09, 59.14)

63.28 (3.57)

64.16 (2.86)

98.58 (0.69)

 

BMI

28.74 (27.62, 30.0)

26.76 (1.06)

31.03 (0.9)

44.98 (0.53)

 

CAD

5.94 (5.30, 6.67)

4.49 (>100)

4.73 (0.28)

7.33 (0.43)

 

T2D

8.45 (7.83, 9.18)

6.90 (0.47)

6.53 (0.3)

11.65 (0.44)

Proportion of genetic variance attributable to exonic regions of genes

HT

24.75 (23.39, 26.071)

27.09

3.00

16.74

 

BMI

12.98 (10.98, 14.84)

12.62

4.37

7.60

 

CAD

13.23 (8.40, 18.84)

18.68

1.69

15.34

 

T2D

14.49 (10.74, 18.54)

14.60

2.46

10.12

Proportion of genetic variance attributable to intronic regions of genes

HT

41.54 (39.91, 43.39)

41.60

46.07

43.03

 

BMI

44.17 (41.36, 47.25)

47.87

44.61

48.19

 

CAD

32.05 (24.98, 39.51)

41.15

47.22

41.94

 

T2D

37.28 (32.22, 42.57)

48.66

38.52

48.02

Proportion of genetic variance attributable to snps 1 kb upstream of genes

HT

2.81 (2.24, 3.42)

1.76

1.46

1.74

 

BMI

1.62 (0.75, 2.69)

0.36

1.90

1.15

 

CAD

4.20 (1.71, 7.55)

2.49

<0.00

1.26

 

T2D

3.58 (1.77, 5.86)

3.40

<0.00

1.57

Proportion of genetic variance attributable to snps 10 kb upstream of genes

HT

6.60 (5.84, 7.40)

6.73

4.29

12.87

 

BMI

5.28 (3.92, 6.87)

3.19

6.58

4.10

 

CAD

13.06 (8.70, 18.16)

5.70

6.02

8.91

 

T2D

9.08 (5.90, 13.28)

4.02

20.44

7.56

Proportion of genetic variance attributable to snps 500 kb upstream of genes

HT

22.13 (21.00, 23.40)

21.53

37.23

24.14

 

BMI

28.58 (26.41, 31.01)

28.81

35.86

31.17

 

CAD

28.02 (21.24, 35.04)

30.23

38.90

29.58

 

T2D

27.42 (22.68, 32.36)

24.33

32.49

27.47

Proportion of genetic variance attributable to exonic regions that is explained by common variants

HT

72.09 (69.77, 74.14)

62.62

75.35

51.22

 

BMI

69.41 (62.60, 76.42)

59.67

16.43

54.31

 

CAD

64.97 (43.08, 83.16)

61.72

>100

49.17

 

T2D

68.57 (56.00, 79.82)

66.33

>100

64.11

Proportion of genetic variance attributable to intronic regions that is explained by common variants

HT

81.19 (79.30, 83.02)

79.96

70.88

66.12

 

BMI

85.05 (78.28, 91.49)

86.10

70.62

69.68

 

CAD

84.68 (65.64, 95.91)

96.55

61.11

78.17

 

T2D

87.62 (75.65, 94.85)

87.63

67.93

71.39

Proportion of genetic variance attributable to snps 500 kb upstream of genes that is explained by common variants

HT

81.59 (78.91, 83.96)

80.66

71.86

77.28

 

BMI

86.78 (80.56, 91.60)

89.95

67.38

74.81

 

CAD

66.49 (49.11, 81.79)

88.51

60.52

79.91

 

T2D

72.35 (58.71, 83.75)

94.91

69.48

75.12

  1. aRHEmc18, LDSC19 and SumHer6 provide the total SNP heritability observed (%) and single heritability estimates per genetic component (see Supplementary Data 2–5) that we summarised to obtain the proportion of genetic variance attributed to exonic regions, intronic regions and windows 1, 1–10 and 10–500 kb upstream of genes.
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