Table 4

Impact of promoter SNPs on predicted transcription factor binding sites

Gene, pSNPIn silico predictions for TF binding sites
Validated differential binding
Gains (score*)Losses (score)HeLaJeg-3HepG2
CDKN2A      
    −222T>A — c-Myb (> 0.97), myogenin/nuclear factor 1 (> 0.74) No NA No 
CDKN2B      
    −1270C>T Interferon regulatory factor 2 (> 0.79), Pax1 paired domain protein (> 0.64) B-cell–specific activating protein (> 0.79) No Yes NA 
    −593A>T,C — MyT1 zinc finger transcription factor (> 0.80), prostate-specific homeodomain protein NKX3.1 (0.84) Yes No Yes 
    −287G>C — Neural-restrictive silencer element (0.70) Yes No No 
CDKN1A      
    −1284T>C — — No Yes Yes 
    −899T>G v-Myb (> 0.92) — Yes Yes No 
    −791T>C — — No Yes No 
CDKN1B      
    −1857C>T Ecotropic viral integration site 1 encoded factor (> 0.83) Myoblast determining factor (> 0.83) No Yes No 
    −1608G>A POZ/zinc finger protein (> 0.84) — No No No 
    −373G>T GAGA-Box (> 0.78), olfactory neuron-specific factor (> 0.82), Pax1 paired domain protein (> 0.63), signal transducer and activator of transcription 1 (> 0.81), STAT6 (> 0.84) Myc-associated zinc finger protein (> 0.94) No No No 
Gene, pSNPIn silico predictions for TF binding sites
Validated differential binding
Gains (score*)Losses (score)HeLaJeg-3HepG2
CDKN2A      
    −222T>A — c-Myb (> 0.97), myogenin/nuclear factor 1 (> 0.74) No NA No 
CDKN2B      
    −1270C>T Interferon regulatory factor 2 (> 0.79), Pax1 paired domain protein (> 0.64) B-cell–specific activating protein (> 0.79) No Yes NA 
    −593A>T,C — MyT1 zinc finger transcription factor (> 0.80), prostate-specific homeodomain protein NKX3.1 (0.84) Yes No Yes 
    −287G>C — Neural-restrictive silencer element (0.70) Yes No No 
CDKN1A      
    −1284T>C — — No Yes Yes 
    −899T>G v-Myb (> 0.92) — Yes Yes No 
    −791T>C — — No Yes No 
CDKN1B      
    −1857C>T Ecotropic viral integration site 1 encoded factor (> 0.83) Myoblast determining factor (> 0.83) No Yes No 
    −1608G>A POZ/zinc finger protein (> 0.84) — No No No 
    −373G>T GAGA-Box (> 0.78), olfactory neuron-specific factor (> 0.82), Pax1 paired domain protein (> 0.63), signal transducer and activator of transcription 1 (> 0.81), STAT6 (> 0.84) Myc-associated zinc finger protein (> 0.94) No No No 

Predicted impact of the pSNPs was estimated with the program matInspector. Gain and loss of transcription factor binding sites are specified for the minor allele with respect to the major allele. NA indicates not available; —, none.

*

Matrix similarity score.

Predictions for the minor allele −593T only are shown. In silico analysis for allele −593C was inconclusive.

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