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Table 3 Single marker associations with PTC (only SNPs with P per allele < 0.05 are shown)

From: Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation

Gene DNA repair module SNP Nucleotide change Location relative to gene MAF in cases MAF in controls Genetic model OR (95% CI) a P a P corr b
MGMT DR rs2296675 A > G Intronic 0.21 0.10     
       Risk per G allele c 2.54 (1.50, 4.30) 0.0006 0.05
       A/G + GG versus A/A d 2.72 (1.48, 5.03) 0.001 0.13
       G/G versus A/G + AA e 5.30 (1.25, 22.48) 0.02 1
XRCC5 NHEJ rs1051685 A > G 3’UTR 0.09 0.16     
       Risk per G allele c 0.39 (0.20, 0.78) 0.008 0.73
       A/G + GG versus A/A d 0.39 (0.18, 0.83) 0.01 1
       G/G versus A/G + AA e N/A N/A N/A
ERCC5 BER, NER rs1047768 C > T Coding (p.His46His) 0.49 0.39     
      Risk per T allele c 1.58 (1.06, 2.35) 0.02 1
      C/T + T/T versus C/C d 1.89 (1.05, 3.42) 0.03 1
      T/T versus C/T + CC e 1.80 (0.88, 3.66) 0.11 1
PARP1 BER, HR, NHEJ rs747659 C > T Intergenic 0.12 0.18     
      Risk per T allele c 0.49 (0.26, 0.94) 0.03 1
      C/T + T/T versus C/C d 0.49 (0.25, 0.97) 0.04 1
      T/T versus C/T + CC e N/A N/A N/A
PCNA BER, MMR, NER, TLS rs17349 C > T 5’UTR 0.14 0.08     
      Risk per T allele c 1.98 (1.07, 3.68) 0.03 1
      C/T + T/T versus C/C d 1.93 (0.96, 3.85) 0.06 1
      T/T versus C/T + CC e 8.29 (0.88, 78.3) 0.06 1
PMS2 MMR rs3735295 G > A Intronic 0.12 0.19     
       Risk per A allele c 0.52 (0.28, 0.97) 0.04 1
       G/A + A/A versus G/G d 0.49 (0.24, 1.00) 0.05 1
       A/A versus G/A + A/A e 0.33 (0.05, 2.07) 0.24 1
OGG1 BER rs125701 G > A Intergenic 0.27 0.21     
       Risk per A allele c 1.65 (1.01, 2.68) 0.04 1
       G/A + A/A versus G/G d 1.87 (1.03, 3.40) 0.04 1
       A/A versus G/A + A/A e 1.73 (0.47, 6.37) 0.41 1
  1. When 2 or more SNPs in the same gene showed significant association, only the best SNP is reported
  2. a Dose was accounted for by including the continuous variable log(1 + dose). Subjects who received more than 2.0 Gy were excluded
  3. b P corr : Bonferroni corrected p-value
  4. c A log-additive model (i.e. a multiplicative model of inheritance), which assumes the same increment in risk for each allele at a given locus was used
  5. d Dominant model of inheritance (combined heterozygotes and rare homozygotes versus common homozygotes)
  6. e Recessive model of inheritance (rare homozygotes versus combined heterozygotes and common homozygotes)
  7. SNP single nucleotide polymorphism, MAF minor allele frequency, OR odds ratio, 95% CI 95% confidence interval, UTR untranslated region, N/A not applicable