Four nonsynonymous single nucleotide polymorphisms increased in discovery cohort and confirmed in replication cohort
By Elana Gotkine HealthDay Reporter
FRIDAY, Oct. 13, 2023 (HealthDay News) — Four single nucleotide polymorphisms (SNPs) in four genes are associated with chronic complex regional pain syndrome type 1 (CRPS-1), according to a study published online Oct. 10 in the Journal of Medical Genetics.
Samiha S. Shaikh, Ph.D., from the Cambridge Institute for Medical Research in the United Kingdom, and colleagues performed exome sequencing to seek altered nonsynonymous SNP allele frequencies in a discovery cohort of 34 well-characterized patients with chronic CRPS-1 compared with population databases. Identified alleles were confirmed and sought in a replication cohort of 50 patients.
The researchers found that the rare allele frequencies of four nonsynonymous SNPs were statistically increased in the discovery cohort (rs41289586 in ANO10, rs28360457 in P2RX7, rs1126930 in PRKAG1, and rs80308281 in SLC12A9). This finding was confirmed in the replication cohort. These alleles were not overexpressed in a chronic pain cohort. Overall, 29.8 percent of the 84 patients with CRPS-1 expressed a rare allele. Men were more likely to have a rare SNP allele than women (57.1 versus 24.3 percent). Macrophages from healthy controls expressed all of ANO10, P2RX7, PRKAG1, and SLC12A9.
“Our data support an underlying genetic predisposition to CRPS-1 in up to a third of cases, with this effect being most prominent in males,” the authors write. “Further studies are needed to confirm and expand our results to allow future precision diagnosis and personalized treatments for CRPS-1.”
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