ASCN9Agene-encodeddorsalrootgangliasodiumchannel：一个SCN9A基因编码的背根神经节钠通道.pdfVIP

Vargas-Alarcon et al. BMC Musculoskeletal Disorders 2012, 13:23 /1471-2474/13/23 RESEARCH ARTICLE Open Access A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia Gilberto Vargas-Alarcon1†, Edith Alvarez-Leon1†, Jose-Manuel Fragoso1†, Angelica Vargas2†, Aline Martinez2†, Maite Vallejo3† and Manuel Martinez-Lavin2* Abstract Background: A consistent line of investigation suggests that autonomic nervous system dysfunction may explain the multi-system features of fibromyalgia (FM); and that FM is a sympathetically maintained neuropathic pain syndrome. Dorsal root ganglia (DRG) are key sympathetic-nociceptive short-circuit sites. Sodium channels located in DRG (particularly Nav1.7) act as molecular gatekeepers for pain detection. Nav1.7 is encoded in gene SCN9A of chromosome 2q24.3 and is predominantly expressed in the DRG pain-sensing neurons and sympathetic ganglia neurons. Several SCN9A sodium channelopathies have been recognized as the cause of rare painful dysautonomic syndromes such as paroxysmal extreme pain disorder and primary erythromelalgia. The aim of this study was to search for an association between fibromyalgia and several SCN9A sodium channels gene polymorphisms. Methods: We studied 73 Mexican women suffering from FM and 48 age-matched women who considered themselves healthy. All participants filled out the Fibromyalgia Impact Questionnaire (FIQ). Genomic DNA from whole blood containing EDTA was extracted by standard techniques. The following SCN9A single-nucleotide polymorphisms (SNP) were determined by 5’ exonuclease TaqMan assays: rs4371369; rs4387806; rs4453709; rs4597545; rs6746030; rs6754031; rs7607967; r r and r Results: The frequency of the rs6754031 polymorphism was significantly different in both groups (P = 0.03