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. 2021 Jan 21;13:14. doi: 10.1186/s13148-020-00999-y

Table 2.

Positivity rate for methylated BCAT1, IKZF1 and IRF4 in each clinical phenotype

N BCAT1 IKZF1 IRF4
n, Posa (%, 95% CI) OR (95% CI)b n, Pos. (%, 95% CI) OR (95% CI) n, Pos. (%, 95% CI) OR (95% CI)
All cases 1620 173 (10.7, 9–12) 185 (11.4, 10–13) 138 (8.5, 7–9)
Cancer 184 87 (47.3, 40–55) 15.8 (10–24)* 109 (59.2, 52–66) 32.6 (21–51)* 92 (50.0, 43–57) 44.6 (26–77)*
Early stage 98 38 (38.8, 29–49) 11.2 (7–19)* 51 (52.0, 42–62) 24.3 (15–41)* 40 (40.8, 31–51) 30.7 (17–56)*
Late stage 84 48 (57.1, 46–68) 23.5 (14–40)* 56 (66.7, 56–77) 44.9 (26–80)* 50 (59.5, 48–70) 65.5 (35–124)*
Stage I 41 8 (19.5, 10–34) 4.3 (2–10)* 11 (26.8, 13–41) 8.2 (4–18)* 7 (17.1, 5–29) 9.2 (4–23)*
Stage II 57 30 (52.6, 40–65) 19.6 (11–35)* 40 (70.2, 58–82) 52.8 (27–99)* 33 (57.9, 45–71) 61.3 (30–122)*
Stage III 51 23 (45.1, 33–59) 14.5 (8–27)* 33 (64.7, 51–78) 41.1 (21–81)* 28 (54.9, 41–69) 54.2 (27–112)*
Stage IV 33 25 (75.8, 59–87) 55.1 (24–121)* 23 (69.7, 53–86) 51.6 (23–114)* 22 (66.7, 50–84) 89.1 (36–209)*
Unstaged 2 1 (50.0, 3.–97) 17.6 (91–335) –* 2 (100, 16–100) –*
Adenoma 616 42 (6.8, 5–9) 1.3 (1–2) 41 (6.7, 5–9) 1.6 (1–3) 28 (4.5, 3–6) 2.1 (1–4)*
Advanced 337 29 (8.6, 6–12) 1.7 (1–3)* 29 (8.6, 6–12) 1.7 (1–3)* 20 (5.9, 3–9) 2.8 (2–5)*
Non-advanced 279 13 (4.7, 3–8) 0.7 (0.5–2) 12 (4.3, 2–7) 1.0 (0.5–2) 8 (2.9, 1–5) 1.3 (0.6–3)
HGDc 35 5 (14.3, 6–30) 2.9 (1–8)* 6 (17.1, 8–33) 4.6 (2–12)* 7 (20.0, 10–36) 11.1 (4–29)*
LGDc 549 35 (6.4, 5–9) 1.2 (0.7–1.9) 32 (5.8, 4–8) 1.4 (1–2) 18 (3.3, 2–5) 1.5 (0.8–3)
No Neoplasia 820 44 (5.4, 4–7) Ref 35 (4.3, 3–6) Ref 18 (2.2, 1–3) Ref
Non-neoplastic pathologiesd 252 14 (5.6, 3–8) 9 (3.6, 1–6) 10 (4.0, 2–6)
Healthy colon 568 30 (5.3, 3–7) 26 (4.6, 3–6) 8 (1.4, 0.4–2)

aAt least one PCR replicate positive for DNA methylation

bOdds ratio (95% CI) compared to cases without neoplasia (Ref), *p values < 0.05

cThe severity of dysplasia was available for 584 of 616 adenomas; HGD, high grade dysplasia; LGD, low grade dysplasia

dBenign polyps (hyperplastic, unspecified, inflammatory, other polyps), inflammatory bowel disease, diverticular disease, angiodysplasia, hemorrhoids