Genetic architecture of human pain perception

L Diatchenko, AG Nackley, IE Tchivileva… - TRENDS in …, 2007 - cell.com
L Diatchenko, AG Nackley, IE Tchivileva, SA Shabalina, W Maixner
TRENDS in Genetics, 2007cell.com
Pain is emotionally detrimental and consciously avoided; however, it is absolutely crucial for
our survival. Pain perception is one of the most complicated measurable traits because it is
an aggregate of several phenotypes associated with peripheral and central nervous system
dynamics, stress responsiveness and inflammatory state. As a complex trait, it is expected to
have a polygenic nature shaped by environmental pressures. Here we discuss what is
known about these contributing genetic variants, including recent discoveries that show a …
Pain is emotionally detrimental and consciously avoided; however, it is absolutely crucial for our survival. Pain perception is one of the most complicated measurable traits because it is an aggregate of several phenotypes associated with peripheral and central nervous system dynamics, stress responsiveness and inflammatory state. As a complex trait, it is expected to have a polygenic nature shaped by environmental pressures. Here we discuss what is known about these contributing genetic variants, including recent discoveries that show a crucial role of voltage-gated sodium channel Nav1.7 in pain perception and how we can advance our understanding of the pain genetic network. We propose how both rare deleterious genetic variants and common genetic polymorphisms are mediators of human pain perception and clinical pain phenotypes.
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