PMID- 12039525 OWN - NLM STAT- MEDLINE DCOM- 20021226 LR - 20221207 IS - 0198-8859 (Print) IS - 0198-8859 (Linking) VI - 63 IP - 6 DP - 2002 Jun TI - Exon 1 polymorphism of the B2BKR gene does not influence the clinical status of patients with hereditary angioedema. PG - 492-4 AB - Polymorphic variants of B2 receptors for bradykinin (B2BKR) have been postulated to influence a clinical manifestation of hereditary angioedema. In this study, exon 1 nonanucleotide deletion polymorphism in the B2BKR gene was examined in 37 patients with hereditary angioedema. The patients were grouped according to disease severity or the age of the first clinical manifestation of disease. No significant differences in allelic frequencies were found between particular subgroups of patients. Therefore, we concluded that this polymorphism does not seem to have any significant effect on the course and severity of hereditary angioedema in Caucasians. FAU - Freiberger, Tomas AU - Freiberger T AD - Department of Immunogenetics, Research Institute of Child Health, Brno, Czech Republic. tomf@vuzd.cz FAU - Vyskocilova, Martina AU - Vyskocilova M FAU - Kolarova, Lenka AU - Kolarova L FAU - Kuklinek, Pavel AU - Kuklinek P FAU - Krystufkova, Olga AU - Krystufkova O FAU - Lahodna, Marie AU - Lahodna M FAU - Hanzlikova, Jana AU - Hanzlikova J FAU - Litzman, Jiri AU - Litzman J LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Hum Immunol JT - Human immunology JID - 8010936 RN - 0 (Receptor, Bradykinin B2) RN - 0 (Receptors, Bradykinin) SB - IM MH - Angioedema/*diagnosis/*genetics MH - Czech Republic MH - *Exons MH - Female MH - Gene Frequency MH - Genotype MH - Humans MH - Male MH - *Polymorphism, Genetic MH - Receptor, Bradykinin B2 MH - Receptors, Bradykinin/*genetics MH - White People EDAT- 2002/06/01 10:00 MHDA- 2002/12/27 04:00 CRDT- 2002/06/01 10:00 PHST- 2002/06/01 10:00 [pubmed] PHST- 2002/12/27 04:00 [medline] PHST- 2002/06/01 10:00 [entrez] AID - S019888590200397X [pii] AID - 10.1016/s0198-8859(02)00397-x [doi] PST - ppublish SO - Hum Immunol. 2002 Jun;63(6):492-4. doi: 10.1016/s0198-8859(02)00397-x.