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Table 2 Distribution of CSF2 genotypes, haplotypes, and diplotypes

From: Genetic variation in CSF2 (5q31.1) is associated with longitudinal susceptibility to pediatric malaria, severe malarial anemia, and all-cause mortality in a high-burden malaria and HIV region of Kenya

Variants

Total

Aparasitemic (MPS negative)

Non-SMA (Hb ≥ 5.0 g/dL)

SMA (Hb < 5.0 g/dL)

P value

No. of participants

1203

250

772

181

CSF2:g.-7032 G > A (rs168681:G > A) genotype

 GG

636 (52.87)

134 (53.60)

407 (52.72)

95 (52.49)

0.9972a

 GA

476 (39.57)

98 (39.20)

305 (39.51)

73 (40.33)

 AA

91 (7.56)

18 (7.20)

60 (7.77)

13 (7.18)

 P value

0.8847

1.0000

0.7869

1.0000

 Allele frequency (p/q)

0.727/0.273

0.732/0.268

0.725/0.275

0.726/0.274

 HWE, P value

0.8847

1.0000

0.7869

1.0000

CSF2:g.64544T > C (rs246835:T > C) genotype

 TT

984 (81.80)

196 (78.40)

636 (82.38)

152 (83.98)

0.2202a

 TC

125 (10.39)

35 (14.00)

77 (9.97)

13 (7.18)

 CC

94 (7.81)

19 (7.60)

59 (7.64)

16 (8.84)

 P value

2.6077 × 10–55

2.0014 × 10–09

1.9886 × 10–36

2.6515 × 10–13

 Allele frequency (p/q)

0.870/0.130

0.854/0.146

0.874/0.126

0.876/0.124

 HWE, P value

2.6182 × 10–55

2.0014 × 10–9

1.9896 × 10–36

2.6528 × 10–13

CSF2:g.-7032 G > A (rs168681:G > A)/CSF2:g.64544T > C (rs246835:T > C) haplotypes

 GT

1470 (61.10)

297 (59.40)

949 (61.50)

224 (61.90)

0.5565a

 GC

278 (11.60)

69 (13.80)

170 (11.00)

39 (10.80)

 AT

623 (25.90)

130 (26)

400 (25.90)

93 (25.70)

 AC

35 (1.50)

4 (0.80)

25 (1.60)

6 (1.70)

 LE, P value

1.6781 × 10–13

1.2543 × 10–06

2.0835 × 10–07

0.0307

CSF2:g.-7032 G > A (rs168681:G > A)/CSF2:g.64544T > C (rs246835:T > C) diplotypes

 GT/GT

500 (41.56)

93 (37.20)

331 (42.88)

76 (41.99)

0.3255a

 GT/GC

71 (5.90)

25 (10.00)

38 (4.92)

8 (4.42)

 GC/GC

65 (5.40)

16 (6.40)

38 (4.92)

11 (6.08)

 GT/AT

399 (33.17)

86 (34.40)

249 (32.25)

64 (35.36)

 GT/AC

27 (2.24)

3 (1.20)

19 (2.46)

5 (2.76)

 GC/AC

85 (7.07)

17 (6.80)

56 (7.25)

12 (6.63)

 AT/AT

50 (4.16)

9 (3.60)

37 (4.79)

4 (2.21)

 AT/AC

4 (0.33)

1 (0.40)

2 (0.26)

1 (0.55)

 AC/AC

2 (0.17)

0 (0.00)

2 (0.26)

0 (0.00)

  1. Data are presented as proportions [n, (%)] unless otherwise stated. Children (n = 1203) were categorized into aparasitemic controls (n = 250; no parasitemia) and according to the WHO definition of SMA [53], into either non-SMA (n = 772; Hb ≥ 5.0 g/dL) or SMA (n = 181; Hb < 5.0 g/dL). aFisher’s exact test with simulated P-values. MPS malaria parasites, Hb hemoglobin, CSF2 colony-stimulating factor 2, p major allele, q minor allele, HWE Hardy–Weinberg Equilibrium, LE linkage equilibrium