Table 4.

Variants associated with residual γH2AX levels following irradiation

GeneGenome coordinate (build 36, hg18)Amino acid change, conservation score*dbSNP accessionHigh γH2AXLow γH2AXPossible effect on DNA repair activityP values < 0.05
AAABBBAAABBB
MDC1chr6:30778271Intronicrs94050481630892Increasep1 = 0.009, p3 = 0.006
BRCA1chr17:38449934Intronicrs12516820563Increasep1 = 0.047, p3 = 0.023
BRCA1chr17:38453439Intronicrs81763014525103Increasep1 = 0.025
BRCA1chr17:38469351Intronicrs30929941040383Increasep1 = 0.021, p3 = 0.009, p4 = 0.036
BRCA1chr17:38469731Intronicrs81762571020381Increasep1 = 0.012, p3 = 0.017
BRCA1chr17:38469732Intronicrs81762561010340Increasep1 = 0.047
BRCA1chr17:38472867Intronicrs116543961431681Increasep1 = 0.038
BRCA1chr17:38480127Intronicrs817621212525103Increasep1 = 0.049
BRCA1chr17:38480201Intronicrs223676212525113Increasep1 = 0.049
BRCA1chr17:38480270-38480274Intronicnovel1442573Increasep1 = 0.044
BRCA1chr17:38496716Intronicrs79991614525103Increasep1 = 0.025
BRCA1chr17:38501690Intronicrs81761471130392Increasep1 = 0.007, p3 = 0.007
BRCA1chr17:38502890Intronicrs81761441330683Increasep1 = 0.013, p3 = 0.004
BRCA1chr17:38510660Intronicrs79991211415103Increasep1 = 0.037, p3 = 0.037
BRCA1chr17:38530713Intronicrs79990513525113Increasep1 = 0.025
ERCC2chr19:50559099D312N, 1rs17997938931441Decreasep3 = 0.042
  • *Conservation score of an amino acid substitution as determined from the BLOSUM62 alignment score matrix (39, 40). We defined scores <0 as nonconservative substitutions and all others as conservative substitutions.