New Genetic Determinant of Neuropathic Pain – Chromosome 12q23.1

We are all faced with patients that have pain are above what they should have and have pondered genetic causes.  Genetic Variant at Chromosome 12q23.1 increases chances by odds ratio 1.68 of neuropathic pain. Is a mitochondrial phosphate carrier and calcium binding gene, expressed in brain and dorsal root ganglia. The plot thickens.

Veluchamy A, Hébert HL, van Zuydam NR, et al. Association of Genetic Variant at Chromosome 12q23.1 With Neuropathic Pain Susceptibility.
JAMA Netw Open. 2021;4(12):e2136560. Published 2021 Dec 1. doi:10.1001/jamanetworkopen.2021.36560

  • neuropathic pain(NP) in 7-10% of pop
  • causes include diabetes, surgery or trauma, infections such as shingles and HIV, nerve compression, nerve entrapment, and chemotherapy.
  • Peripherally based disorders like diabetes and post herpetic neuralgia respond better to medications compared with back pain sciatica which does not (my addin)
  • Understanding is incomplete as 26% of  diabetics do not have NP
  • “recent twins study from the United Kingdom revealed a substantial genetic contribution to NP, with a heritability estimate of 37%.”
    Momi SK, Fabiane SM, Lachance G, Livshits G, Williams FMK. Neuropathic pain as part of chronic widespread pain: environmental and genetic influences. Pain. 2015 Oct;156(10):2100-2106.
  • Study comprised of 70,000 patient + from UK databases some diabetic – honed down to 482 NP cases of 1597 participants
  • “The study found a genome-wide significant locus at chromosome 12q23.1, which mapped to SLC25A3 (rs369920026; odds ratio [OR] for having NP, 1.68; 95% CI, 1.40-2.02; P = 1.30 × 10−8), and a suggestive variant at 13q14.2 near CAB39L (rs7992766; OR, 1.09; 95% CI, 1.05-1.14; P = 1.22 × 10−7). These mitochondrial phosphate carriers and calcium binding genes are expressed in brain and dorsal root ganglia”

Comment – makes one consider this is not just fear avoidance that is getting chronic pain sufferers in trouble

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