Genetic architecture of human pain perception
by
Diatchenko L, Nackley AG, Tchivileva IE, Shabalina SA, Maixner W.
Center for Neurosensory Disorders, University of North Carolina,
2190 Old Dental Building,
Chapel Hill, NC 27599, USA.
ldiatch@email.unc.edu
Trends Genet. 2007 Dec;23(12):605-13.
ABSTRACTPain 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.SCN9A
Pain sensitvity
Congenital indifference to pain
Anaesthesics and congenital insensitivity to pain
The Nav1.7 gene and congenital indifference to pain
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