Genetic associations of neuropathic pain and sensory profile in a deeply phenotyped neuropathy cohort.

ABSTRACT:

Abstract

We aimed to investigate the genetic associations of neuropathic pain in a deeply phenotyped cohort. Participants with neuropathic pain were cases and compared with those exposed to injury or disease but without neuropathic pain as control subjects. Diabetic polyneuropathy was the most common aetiology of neuropathic pain. A standardised quantitative sensory testing protocol was used to categorize participants based on sensory profile. We performed genome-wide association study, and in a subset of participants, we undertook whole-exome sequencing targeting analyses of 45 known pain-related genes. In the genome-wide association study of diabetic neuropathy (N = 1541), a top significant association was found at the KCNT2 locus linked with pain intensity (rs114159097, P = 3.55

SUBMITTER: Akerlund M 

PROVIDER: S-EPMC12067614 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature