Pain perception is altered by a nucleotide polymorphism in SCN9A

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 107; no. 11; pp. 5148 - 5153
• Main Authors: Reimann, Frank, Cox, James J, Belfer, Inna, Diatchenko, Luda, Zaykin, Dmitri V, McHale, Duncan P, Drenth, Joost P.H, Dai, Feng, Wheeler, Jerry, Sanders, Frances, Wood, Linda, Wu, Tian-Xia, Karppinen, Jaro, Nikolajsen, Lone, Männikkö, Minna, Max, Mitchell B, Kiselycznyk, Carly, Poddar, Minakshi, te Morsche, Rene H.M, Smith, Shad, Gibson, Dustin, Kelempisioti, Anthi, Maixner, William, Gribble, Fiona M, Woods, C. Geoffrey
• Format: Journal Article
• Language: English
• Published: United States National Academy of Sciences 16.03.2010; National Acad Sciences
• Subjects: Adult; Alleles; Biological Sciences; Biophysical Phenomena - genetics; Cohort Studies; Correlation analysis; Electric potential; Erythromelalgia; Female; Gene expression; Genetic mutation; Genetic Predisposition to Disease; Genotype & phenotype; Humans; Mutant Proteins - genetics; Mutation; NAV1.7 Voltage-Gated Sodium Channel; Neurons; Osteoarthritis; P values; Pain; Pain - genetics; Pain - physiopathology; Pain perception; Pain Threshold; Perception; Polymorphism; Polymorphism, Single Nucleotide - genetics; Regression Analysis; Sensory perception; Sodium channels; Sodium Channels - genetics

The gene SCN9A is responsible for three human pain disorders. Nonsense mutations cause a complete absence of pain, whereas activating mutations cause severe episodic pain in paroxysmal extreme pain disorder and primary erythermalgia. This led us to investigate whether single nucleotide polymorphisms...