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. Author manuscript; available in PMC: 2021 Jan 1.
Published in final edited form as: J Hum Genet. 2019 Oct 29;65(2):99–113. doi: 10.1038/s10038-019-0692-3

Table 2.

Distribution of COX-2 variants

Variants Total Population n (%) Aparasitemic (MPS-) n (%) Non-SMA (Hb ≥ 5.0 g/dL) n (%) SMA (Hb < 5.0 g/dL) n (%) P value
−512
 CC 921 (85.2) 217 (83.1) 578 (86.3) 126 (84.0) 0.180a
 CT 139 (12.9) 42 (16.1) 76 (11.3) 21 (14.0)
 TT 21 (1.9) 2 (0.8) 16 (2.4) 3 (2.0)
 MAF (p/q) 0.916/0.084 0.912/0.088 0.919/0.081 0.911/0.089
 HWE (X2, P) 28.327, <0.001 0.984, <0.001 36.877, <0.001 3.167, 0.075
−608
 TT 748 (69.2) 186 (71.3) 457 (68.2) 105 (70.0) 0.664a
 TC 277 (25.6) 59 (22.6) 179 (26.7) 39 (26.0)
 CC 56 (5.2) 16 (6.1) 34 (5.1) 6 (4.0)
 MAF (p/q) 0.820/0.180 0.826/0.174 0.816/0.184 0.830/0.170
 HWE (X2, P) 18.746, 0.001 12.038, 0.001 8.335, 0.004 0.928, 0.335
−765
 GG 475 (43.9) 113 (43.3) 297 (44.3) 65 (43.3) 0.148a
 GC 450 (41.6) 103 (39.5) 275 (41.0) 72 (48.0)
 CC 156 (14.4) 45 (17.2) 98 (14.6) 13 (8.7)
 MAF (p/q) 0.648/0.352 0.630/0.370 0.649/0.351 0.673/0.327
 HWE (X2, P) 8.375, 0.004 6.130, 0.013 6.657, 0.010 1.246, 0.264
−1195
 AA 973 (90.0) 239 (91.6) 595 (88.8) 135 (92.7) 0.271a
 AG 91 (8.4) 17 (6.5) 63 (9.4) 11 (7.3)
 GG 17 (1.6) 5 (1.9) 12 (1.8) 0 (0.0)
 MAF (p/q) 0.942/0.058 0.948/0.052 0.935/0.065 0.962/0.038
 HWE (X2, P) 55.863, 0.001 29.471, 0.001 34.095, 0.001 0.224, 0.363
Haplotypes
 CTGA 0 391 (36.2) 100 (38.3) 248 (37.0) 43 (28.7) 0.112a
1 690 (63.8) 161 (61.7) 422 (63.0) 107 (71.3)
 CCGA 0 777 (71.9) 195 (74.7) 476 (71.0) 106 (70.7) 0.502a
1 304 (28.1) 66 (25.3) 194 (29.0) 44 (29.3)
 CTCA 0 590 (54.6) 137 (52.5) 367 (54.8) 86 (57.3) 0.629a
1 491 (45.4) 124 (47.5) 303 (45.2) 64 (42.7)
 CTCG 0 1072 (99.2) 260 (99.6) 662 (98.8) 150 (100.0) 0.228b
1 9 (0.8) 1 (0.4) 8 (1.2) 0 (0.0)
 TTCA 0 952 (88.1) 228 (87.4) 597 (89.1) 127 (84.7) 0.292a
1 129 (11.9) 33 (12.6) 73 (10.9) 23 (15.3)
 TTGG 0 1076 (99.5) 260 (99.6) 668 (99.7) 148 (98.7) 0.235b
1 5 (0.5) 1 (0.4) 2 (0.3) 2 (1.3)
 CCCA 0 1,046 (96.8) 250 (23.1) 648 (96.7) 148 (98.7) 0.281a
1 35 (3.2) 11 (4.2) 22 (3.3) 2 (1.3)
 TTGA 0 1059 (98.0) 254 (97.3) 657 (98.1) 148 (98.7) 0.622b
1 22 (2.0) 7 (|2.7) 13 (1.9) 2 (1.3)
 CTGG 0 993 (91.9) 242 (92.7) 610 (91.0) 141 (94.0) 0.412a
1 88 (8.1) 19 (7.3) 60 (9.0) 9 (6.0)
 TCGA 0 1077 (99.6) 259 (99.2) 668 (99.7) 150 (100.0) 0.414a
1 4 (0.4) 2 (0.8) 2 (0.3) 0 (0.0)
 CCGG 0 1075 (99.4) 260 (99.6) 665 (99.3) 150 (100.0) 0.491b
1 6 (0.6) 1 (0.4) 5 (0.7) 0 (0.0)
 TTCG 0 1075 (99.4) 261 (100.0) 664 (99.1) 150 (100.0) 0.157b
1 6 (0.6) 0 (0.0) 6 (0.9) 0 (0.0)

Data are presented as proportions [n (%)] of genetic variants within the study groups. Children (n = 1081) were categorized into aparasitemic controls (n = 261; no parasitemia) and based on WHO definition of SMA into either non-SMA (n = 670; Hb ≥ 5.0 g/dL) or SMA (n = 150; Hb < 5.0 g/dL). Minor Allele frequencies (MAF; p/q) were computed for variants within study groups. Hardy–Weinberg Equilibrium (HWE) was computed using a χ2 goodness of fit test. Haplotypes were constructed using the HPlus software program (Fred Hutchinson Cancer Research Center, WA, USA), and their distribution frequencies estimated using haploview software (version 4.2; Broad Institute, MA, USA). (0) = non-carriers of haplotypes and (1) = carriers of haplotypes.

a

Statistical significance determined by Pearson’s χ2 test.

b

Statistical significance determined by Fisher’s exact tests