Rs6311

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rs6311 is a gene variation—a single nucleotide polymorphism (SNP)—in the human HTR2A gene that codes for the 5-HT2A receptor. 5-HT2A is neuroreceptor and a number of brain-related investigations have been reported, e.g., about personality traits.[1][2] But the SNP has also been investigated in rheumatology studies.[3][4]

Some research studies may refer to this gene variation as a C/T SNP,[1] while others refer to it as a G/A polymorphism in the promotor region, thus writing it as, e.g., −1438 G/A or 1438G>A.[5][6][7]

As of 2008 meta-analysis of research studies indicates that people with the A-allele may have slightly elevated risk of schizophrenia.[8]

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  1. ^ a b Ina Giegling, Annette M. Hartmann, Hans-Jürgen Möller and Dan Rujescu (November 2006). "Anger- and aggression-related traits are associated with polymorphisms in the 5-HT-2A gene". Journal of Affective Disorders 96: 75–81. doi:10.1016/j.jad.2006.05.016. 
  2. ^ Alessandro Serretti, Raffaella Calati, Ina Giegling, Annette M. Hartmann, Hans-Jürgen Möller, Cristina Colombo and Dan Rujescu (August 2007). "5-HT2A SNPs and the Temperament and Character Inventory". Progress in Neuro-Psychopharmacology and Biological Psychiatry 31 (6): 1275–1281. doi:10.1016/j.pnpbp.2007.05.008. 
  3. ^ Berna Tander, Sezgin Gunes, Omer Boke, Gamze Alayli1, Nurten Kara, Hasan Bagci and Ferhan Canturk (May 2008). "Polymorphisms of the serotonin-2A receptor and catechol-O-methyltransferase genes: a study on fibromyalgia susceptibility". Rheumatology International 28 (7): 685–691. doi:10.1007/s00296-008-0525-8. 
  4. ^ Anders Kling, Maria Seddighzadeh, Lisbeth Ärlestig, Lars Alfredsson, Solbritt Rantapaa-Dahlqvist and Leonid Padyukov (2007). "Genetic variations in the serotonin 5-HT2A receptor gene (HTR2A) are associated with rheumatoid arthritis". Ann. Rheum. Dis.. doi:10.1136/ard.2007.074948. PMID 18006541. 
  5. ^ Chandra A. Reynolds, Mårten Jansson, Margaret Gatz and Nancy L. Pedersen (January 2006). "Longitudinal change in memory performance associated with HTR2A polymorphism". Neurobiology of Aging 27 (1): 150–154. doi:10.1016/j.neurobiolaging.2004.12.009. 
  6. ^ Indrani Halder, Matthew F. Muldoon, Robert E. Ferrell & Stephen B. Manuck (December 2007). "Serotonin Receptor 2A (HTR2A) Gene Polymorphisms Are Associated with Blood Pressure, Central Adiposity, and the Metabolic Syndrome". Metabolic Syndrome and Related Disorders 5 (4): 323–330. doi:10.1089/met.2007.0008.. 
  7. ^ Pilar A. Saiz, Maria P. Garcia-Portilla, Celso Arango, Blanca Morales, Maria-Teresa Bascaran, Sara Martinez-Barrondo, Gerardo Florez, Emilio Sotomayor, Begoña Paredes, Cesar Alvarez, Gema San Narciso, Eduardo Carreño, Igor Bombin, Victoria Alvarez, Eliecer Coto, Juan M. Fernandez, Manuel Bousoño and Julio Bobes (April 2008). "Association study between obsessive–compulsive disorder and serotonergic candidate genes". Progress in Neuro-Psychopharmacology and Biological Psychiatry 32 (3): 765–770. doi:10.1016/j.pnpbp.2007.12.005. 
  8. ^ Meta-Analysis of All Published Schizophrenia-Association Studies (Case-Control Only) rs6311. Schizophrenia Research Forum. Retrieved on 2008-06-10.