Kinin receptor polymorphisms associated with clinical phenotype a

Gene Location Position Polymorphism Comment Reference
   Promoter -58 -58C/T Braun et al., 1996
   Exon 1 21 9 nt insertion/deletion -9 allele linked to higher transcript levels Lung et al., 1997; Braun et al., 1995
   Exon 2 181 181C/T R14C; T allele associated with increased potency of B2 agonist Braun et al., 1995
   Promoter -699 G/C ActI RFLP; C allele linked to higher transcription Bachvarov et al., 1998
   Exon 3 1098 A/G TaqI RFLP Bachvarov et al., 1998
  • RFLP, restriction fragment length polymorphism.

  • a Eight additional polymorphisms in the BDKRB2 promoter region as well as one missense mutation (T21M) were found by Erdmann et al. (1998); however, these polymorphisms appear to be present at too low a frequency to be of value for association studies. Eight additional polymorphisms in the BDKBR1 coding region, including two coding for substitution and one coding for premature truncation, were described by Hess et al. (2002). Three of these were found at a frequency >2%; however, none of these polymorphisms have been reported yet to be associated with a clinical phenotype