title: A polymorphic locus in the intron 16 of the human angiotensin-converting enzyme (ACE) gene is not correlated with complex regional pain syndrome I (CRPS I).
abstract: Exaggerated neurogenic inflammation has been recognized to be one reason for many CRPS symptoms. Since angiotensin-converting enzyme (ACE) is a key enzyme for the termination of neurogenic inflammation, it has been selected as a candidate gene for CRPS predisposition. A previous report of an insertion/deletion (I/D) polymorphism in intron 16 within the ACE gene implicated an increased risk to develop CRPS I associated with the D allele. However, in the present study the D allele frequency was not increased in CRPS I cases (0.51 for D allele, 0.49 for I allele). Furthermore, there was no co-segregation of any genotype (DD, ID, II) with the CRPS phenotype in 12 selected familial CRPS I cases from six CRPS I families. In conclusion, the results presented herein render this particular ACE gene polymorphism unlikely to be a predisposing factor for CRPS I.
authors.affiliation: Institut für Humangenetik, Erlangen, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Hühne
authors.forename: S
authors.initials: S
authors.lastname: Leis
authors.forename: M
authors.initials: M
authors.lastname: Schmelz
authors.forename: B
authors.initials: B
authors.lastname: Rautenstrauss
authors.forename: F
authors.initials: F
authors.lastname: Birklein
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D009479:Neuropeptides; D010375:Pedigree; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D012019:Reflex Sympathetic Dystrophy / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*
chemical_list: D009479:Neuropeptides; D007703:Peptidyl-Dipeptidase A