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Table 2 Overview of the selected SNPs, their effect on enzyme function and definition of risk alleles

From: Prevalence of at-risk genotypes for genotoxic effects decreases with age in a randomly selected population in Flanders: a cross sectional study

Polymorphism   Expected effect on enzymatic function Putuative Risk Allele Risk Allele leading to
Biotransformation Phase I
CYP1A2 A > C-154 (1) Higher inducibility -154 C  
CYP1A1 T > C3801 (4)   3801 C  
  I462V (4)   462 V Increased formation of reactive metabolites (phase I enzymes)
  T461N (4) Higher enzyme activity 461 N  
CYP2E1 G > T-70 (4)   -70 T  
CYP3A4 A > G-391 (4)   -391 G  
Biotransformation Phase II
GSTM1 Del (1) Deletion, no enzyme activity Del  
GSTT1 Del (1)   Del  
GSTP1 I105V (1)   105 V Decreased detoxification of reactive metabolites (phase II enzymes)
  A114V (1)   114 V  
NAT2 I114T (1) Decreased enzyme activity 114 T  
  R197Q (1)   197 Q  
  G286E (1)   286 E  
DNA Repair
BRCA2 5'UTR (A-26G) (2) Modulated expression A -26  
  N372H (2) Decreased enzyme activity 372 H Decreased DNA repair
XRCC1 R194W (2) Increased enzyme activity R 194  
  R280H (2) Decreased enzyme activity 280 H  
XRCC3 T241M (2)   241 M  
XPD K751Q (2)   751 Q  
  R156R (2) Decreased enzyme activity 156 R Decreased DNA repair
APE1 D148G (3)   148 G  
OGG1 S326C (2)   326 C  
Oxidative Stress
mnSOD V16A (3) Decreased enzyme activity 16 A  
CAT C > T-262 (3) Lower catalase activity -262 T Decreased oxidative stress defense
NQO1 P187S (3) Decreased enzyme activity 187 S  
  R139W (3)   139 W  
MPO G > A-463 (4) Higher enzyme activity G -463 Higher production of free radicals
GPX1 P198L (3) Less efficient final GSH peroxidaxe complex 198 L Impaired GSH metabolism; higher oxidative stress
  1. (1)-(4): different multiplex PCRs (See Materials and Methods)