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