Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS).
Complex regional pain syndrome (CRPS) is a condition that is characterized by severe pain and exaggerated neurogenic inflammation, which may develop after injury or surgery. Neurogenic inflammation is mediated by neuropeptides, such as calcitonin gene-related peptide (CGRP) and substance P (SP) that are released from nociceptors. Genetic factors may play a role in CRPS as was suggested by the occurrence of familial cases and several genetic association studies investigating mainly the human leukocyte antigen (HLA) system. Here we investigated the role of neutral endopeptidase (NEP), a key enzyme in neuropeptide catabolism. NEP dysfunction resulting in reduced inactivation of neuropeptides may be a possible pathomechanism in CRPS. To this end, we tested a GT-repeat polymorphism in the NEP promoter region as well as 18 tag-SNPs in six linkage disequilibrium (LD) blocks in the NEP gene region in 320 CRPS patients and 376 controls. No significant genetic association was observed. Thus, we conclude that the NEP gene does not seem to be a major risk factor for CRPS.
Huehne
Kathrin
K
Institute of Human Genetics, University Hospital Erlangen-Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany. Kathrin.Huehne@uk-erlangen.de
Schaal
Ute
U
Leis
Stefan
S
Uebe
Steffen
S
Gosso
M Florencia
MF
van den Maagdenberg
Arn M J M
AM
Maihöfner
Christian
C
Birklein
Frank
F
Rautenstrauss
Bernd
B
Winterpacht
Andreas
A
D024506:5' Flanking Region; D000328:Adult; D016022:Case-Control Studies; D020918:Complex Regional Pain Syndromes / Q000235:genetics*; D018900:Dinucleotide Repeats; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D015260:Neprilysin / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic
D015260:Neprilysin