Skip to main content

Table 2 Description of the study population. Information about TTR amyloidogenic mutations, sex, age, epigenetically determined smoking status (never smoker, NS; former smoker, FS; current smoker, CS), and epigenetically estimated ranges of T cells (CD8T and CD4T), natural killer cells (NK), B cells, monocytes (Mono) and granulocytes (Gran) are reported

From: Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis

TTR mutation

N

Sex

Female (%)

Age median

(Min–Max)

Smoking

CD8T Median

(Min –Max)

CD4T median

(Min–Max)

NK median

(Min–Max)

B cell median

(Min–Max)

Mono median

(Min–Max)

Gran median

(Min–Max)

NS

FS

CS

Cases

Val30Met

33

10 (30)

65 (31–88)

1

23

9

0.033 (−3.24 × 10–20–0.131)

0.118 (1.1 × 10–2–0.21)

0.033 (−3.81 × 10–19–0.127)

1.52 × 10–3 (−5.55 × 10–19–0.066)

0.082 (0.038–0.147)

0.634 (0.551–0.824)

Phe64Leu

8

1 (12)

70 (48–75)

0

4

4

4.02 × 10–3 (1.07 × 10–18–1.112)

0.127 (6.9 × 10–2–0.228)

0.014 (1.96 × 10–20–0.099)

3.13 × 10–3 (−2.17 × 10–19–0.021)

0.085 (0.057–0.107)

0.65 (0.46–0.704)

Ala120Ser

2

2 (100)

67–68

0

2

0

−3.34 × 10–20–0

0.068–0.11

8.1 × 10–3–1.28 × 10–1

0–5.1 × 10–3

0.092–0.11

0.56–0.74

Ile68Leu

3

0

53 (30–62)

0

0

3

0

0.142 (0.07–0.16)

0.038 (0.013–0.041)

4.4 × 10–3 (3.8 × 10–3–5.1 × 10–3)

0.083 (0.096–0.147)

0.59 (0.603–0.73)

Val122Ile

1

0

80

0

0

1

0

0.23

0.042

0.005

0.071

0.55

rs36204272*

1

0

65

0

1

0

0.069

0.14

0.052

0.006

0.129

0.505

Controls

32

19 (59)

37 (20–76)

0

27

5

0.015 (8.45 × 10–19–0.13)

0.16 (0.045–0.34)

0.044 (−2.68 × 10–19–0.18)

0.014 (1.08 × 10–19–0.091)

0.092 (0.051–0.13)

0.571 (0.41–0.76)

  1. *Non-coding variant of putative clinical impact