Skip to main content

Table 3 NFKBIL2 and flanking gene polymorphism genotype frequencies in European individuals with IPD and controls

From: Common NFKBIL2 polymorphisms and susceptibility to pneumococcal disease: a genetic association study

Polymorphism/locationa (major/minor allele)

Status

Genotype distributionb

Genotypic 3 × 2 chi-square (Pvalue)

Heterozygote protection modelc

  

AA

Aa

aa

 

OR (95% CI)

P valued

rs10448143, -5,224, 5' upstream (C/T)

Control

203 (57.7%)

126 (35.8%)

23 (6.5%)

1.245 (0.537)

1.17 (0.79 to 1.72)

0.425

 

IPD

88 (56.1%)

62 (39.5%)

7 (4.5%)

   

rs2170096, -4,368, 5' upstream (C/G)

Control

164 (24.3%)

349 (51.7%)

162 (24.0%)

4.927 (0.085)

0.71 (0.51 to 0.99)

0.036

 

IPD

53 (26.4%)

87 (43.3%)

61 (30.3%)

   

rs4925858, -3,771, 5' upstream (G/A)

Control

185 (27.1%)

360 (52.7%)

138 (20.2%)

6.664 (0.036)

0.69 (0.50 to 0.95)

0.016

 

IPD

66 (29.6%)

97 (43.5%)

60 (26.9%)

   

rs760477, -263, NFKBIL2 intron 4 (C/T)

Control

188 (26.3%)

370 (51.7%)

158 (22.1%)

9.810 (0.007)

0.64 (0.48 to 0.85)

0.002

 

IPD

82 (31.3%)

106 (40.5%)

74 (28.2%)

   

rs2306384, +2,754, Ser/Gly, NFKBIL2 exon 11 (A/G)

Control

158 (24.6%)

336 (52.4%)

147 (22.9%)

12.329 (0.002)

0.61 (0.45 to 0.83)

0.001

 

IPD

67 (27.0%)

100 (40.3%)

81 (32.7%)

   

rs4082353, +12,589, NFKBIL2 intron 25 (G/T)

Control

175 (27.2%)

327 (50.8%)

142 (22.0%)

9.932 (0.007)

0.66 (0.49 to 0.89)

0.005

 

IPD

70 (28.6%)

99 (40.4%)

76 (31.0%)

   

rs2272658, +16,899, VPS28 intron 4 (C/T)

Control

156 (24.6%)

330 (52.1%)

147 (23.2%)

6.684 (0.035)

0.68 (0.49 to 0.95)

0.023

 

IPD

47 (25.7%)

78 (42.6%)

58 (31.7%)

   

rs13258200, +36,964, CPSF1 intron 2 (A/C)

Control

258 (39.2%)

317 (48.1%)

84 (12.7%)

0.364 (0.833)

0.95 (0.72 to 1.26)

0.739

 

IPD

107 (38.9%)

129 (46.9%)

39 (14.2%)

   

rs4380978, +68,695, ADCK5 intron 1 (G/C)

Control

212 (31.7%)

347 (51.9%)

110 (16.4%)

0.227 (0.893)

0.94 (0.70 to 1.26)

0.696

 

IPD

78 (32.0%)

123 (50.4%)

43 (17.6%)

   
  1. VPS28, vacuolar protein sorting 28; CPSF1, cleavage and polyadenylation-specific factor 1; ADCK5, aarF domain-containing kinase 5; OR, odds ratio; CI, confidence interval; IPD, invasive pneumococcal disease. The following NFKBIL2 SNPs were nonpolymorphic or very rare (minor allele frequency <0.01) in the UK Caucasian population studied: rs7459910; rs2306383; rs4448319; rs3802163; rs4925856; rs2242264; rs2620660; rs741970; rs4925857; rs6985339; rs2928378; rs12677973. aSNP positions listed are relative to the start of translation (in exon 5). bNumber of individuals (%). cComparison of heterozygotes [Aa] with homozygotes [AA + aa]. d2 × 2 chi-squared comparison, one degree of freedom. P values below 0.05 are highlighted in bold.