Evidence of a genetic background predisposing to complex regional pain syndrome type 1.

ABSTRACT:

Background

Complex regional pain syndrome type 1 (CRPS-1) is a rare, disabling and sometimes chronic disorder usually arising after a trauma. This exploratory study examined whether patients with chronic CRPS-1 have a different genetic profile compared with those who do not have the condition.

Methods

Exome sequencing was performed to seek altered non-synonymous SNP allele frequencies in a discovery cohort of well-characterised patients with chronic CRPS-1 (n=34) compared with population databases. Identified SNP alleles were confirmed by Sanger sequencing and sought in a replication cohort (n=50). Gene expression of peripheral blood macrophages was assessed.

Results

In the discovery cohort, the rare allele frequencies of four non-synonymous SNPs were st

SUBMITTER: Shaikh SS 

PROVIDER: S-EPMC10850724 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature