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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
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BMC Cancer

ISSN: 1471-2407

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