Phenotyping and Genotyping Neuropathic Pain

Abstract

Despite ongoing efforts, neither effective treatments nor mechanistic understanding of the pathogenesis of human neuropathic pain exists. Genetic association studies may point to the novel molecules that mediate neuropathic pain, facilitating its understanding and management. Several studies used a candidate gene approach to elucidate genetic contribution to neuropathic pain phenotypes; however, the data is limited and inconsistent. Possible reasons include: sample heterogeneity, underpowered study design, population admixture, poor phenotyping, genotyping errors, and statistical analytical mistakes. This article summarizes and discusses current strategies to optimize population-based association studies of human neuropathic pain focusing on principles of measuring neuropathic pain phenotypes and genotyping techniques. We also consider advantages and challenges of study designs and statistical analyses.