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. 2010 Jan 25;115(19):3923–3929. doi: 10.1182/blood-2009-10-249722

Table 1.

MTHFR 677C>T, MTHFR 1298A>C, MTR 2756A>G, SHMT1 1420C>T, TS 1494del6, and TS 28-bp repeat genotype frequencies, ORs and 95% CIs in acute leukemia cases and controls

Controls n ALL
AML
Total ALL
B-lineage
T-lineage
n OR (95% CI) n OR (95% CI) n OR (95% CI) n OR (95% CI)
Total* 824 939 765 87 89
MTHFR (677 C>T)
    CC 359 (47.2) 374 (46.4) 1.00 302 (46.0) 1.00 37 (50.7) 1.00 47 (59.5) 1.00
    CT 317 (41.7) 341 (42.4) 1.03 (0.84-1.27) 275 (41.8) 1.03 (0.83-1.29) 29 (39.7) 0.89 (0.53-1.48) 21 (26.6) 0.51 (0.30-0.87)
    TT 84 (11.1) 90 (11.2) 1.03 (0.74-1.43) 80 (12.2) 1.13 (0.80-1.59) 7 (9.6) 0.81 (0.35-1.88) 11 (13.9) 1.00 (0.50-2.01)
    CC versus CT/TT 401 (52.8) 431 (53.6) 1.03 (0.85-1.26) 355 (54.0) 1.05 (0.85-1.30) 36 (49.3) 0.87 (0.54-1.41) 32 (40.5) 0.61 (0.38-0.98)
MTHFR (1298A>C)
    AA 350 (46.1) 408 (51.9) 1.00 343 (53.2) 1.00 33 (48.5) 1.00 41 (52.6) 1.00
    AC 332 (43.7) 305 (38.8) 0.79 (0.64-0.97)a 243 (37.7) 0.75 (0.60-0.93)b 32 (47.1) 1.02 (0.61-1.70) 26 (33.3) 0.67 (0.40-1.12)
    CC 77 (10.2) 73 (9.3) 0.81 (0.57-1.15) 59 (9.1) 0.78 (0.54-1.13) 3 (4.4) 0.41 (0.12-1.38) 11 (14.1) 1.22 (0.60-2.48)
    AA versus AC/CC 409 (53.9) 378 (48.1) 0.79 (0.65-0.97)c 302 (46.8) 0.75 (0.61-0.93)d 35 (51.5) 0.91 (0.55-1.49) 37 (47.4) 0.77 (0.48-1.23)
SHMT1 (1420C>T)
    CC 351 (46.1) 401 (49.0) 1.00 330 (49.0) 1.00 35 (47.9) 1.00 41 (52.6) 1.00
    CT 318 (41.8) 320 (39.1) 0.88 (0.71-1.09) 259 (38.5) 0.87 (0.69-1.08) 33 (45.2) 1.04 (0.63-1.71) 28 (35.9) 0.75 (0.46-1.25)
    TT 92 (12.1) 97 (11.9) 0.92 (0.67-1.27) 84 (12.5) 0.97 (0.70-1.35) 5 (6.9) 0.55 (0.21-1.43) 9 (11.5) 0.84 (0.39-1.79)
    CC versus CT/TT 410 (53.9) 417 (51.0) 0.89 (0.73-1.09) 343 (51.0) 0.89 (0.72-1.10) 38 (52.1) 0.93 (0.57-1.50) 37 (47.4) 0.77 (0.48-1.23)
TS 28bp repeat
    2R/2R 181 (24.0) 193 (25.4) 1.00 165 (26.6) 1.00 13 (18.1) 1.00 15 (18.5) 1.00
    2R/3R 368 (48.8) 344 (45.3) 0.88 (0.68-1.13) 274 (44.2) 0.82 (0.63-1.06) 33 (45.8) 1.25 (0.64-2.43) 40 (49.4) 1.31 (0.71-2.44)
    3R/3R 205 (27.2) 222 (29.3) 1.02 (0.77-1.34) 181 (29.2) 0.97 (0.72-1.30) 26 (36.1) 1.77 (0.88-3.54) 26 (32.1) 1.53 (0.79-2.98)
    2R2R versus others 575 (76.0) 570 (74.6) 0.93 (0.74-1.17) 457 (73.4) 0.87 (0.68-1.11) 59 (81.9) 1.43 (0.77-2.66) 66 (81.5) 1.38 (0.77-2.49)
TS (1494 del6)
    6-bp+/6-bp+ 373 (49.0) 423 (49.5) 1.00 353 (50.4) 1.00 36 (46.8) 1.00 41 (48.8) 1.00
    6-bp+/6-bp 331 (43.4) 336 (39.3) 0.90 (0.73-1.10) 268 (38.3) 0.86 (0.69-1.06) 32 (41.6) 1.00 (0.61-1.65) 30 (35.7) 0.82 (0.5-1.35)
    6-bp/6-bp 58 (7.6) 96 (11.2) 1.46 (1.02-2.08)e 79 (11.3) 1.44 (1.00-2.08)f 9 (11.7) 1.61 (0.74-3.51) 13 (15.5) 2.04 (1.03-4.03)g
    6-bp+/6-bp+ versus 6-bp+/6-bp/6-bp/6-bp 389 (51.0) 432 (50.5) 0.98 (0.81-1.19) 347 (49.6) 0.94 (0.77-1.16) 41 (53.2) 1.09 (0.68-1.75) 43 (51.2) 1.02 (0.64-1.58)
MTR 2756 (A>G)
    AA 510 (67.2) 531 (61.0) 1.00 431 (60.6) 1.00 48 (61.6) 1.00 43 (55.8) 1.00
    AG 223 (29.4) 288 (33.1) 1.24 (1.00-1.53)h 240 (33.8) 1.27 (1.02-1.59)i 26 (33.3) 1.24 (0.75-2.05) 28 (36.4) 1.49 (0.90-2.46)
    GG 26 (3.4) 51 (5.9) 1.88 (1.16-3.07)j 40 (5.6) 1.82 (1.09-3.03)k 4 (5.1) 1.63 (0.55-4.88) 6 (7.8) 2.74 (1.07-7.01)l
    AA versus AG/GG 249 (32.8) 339 (39.0) 1.31 (1.07-1.60)m 280 (39.4) 1.33 (1.07-1.65)n 30 (38.4) 1.28 (0.79-2.07) 34 (44.2) 1.62 (1.01-2.60)o

ALL indicates acute lymphoblastic leukemia; AML, acute myeloid leukemia; and OR, odds ratio.

*

Total includes persons for whom a result was not available, and varied between single nucleotide polymorphisms.

Includes 2 cases with 1R/1R, one case with 2R/4R, and one case with 3R/4R, and 2 controls with 3R/4R genotypes.

aP = .03, bP = .01, cP = .02, dP = .01, eP = .03, fP = .05, gP = .04, hP = .05, iP = .03, jP = .01, kP = .02, lP = .04, mP = .01, nP = .01, oP = .05.