rs6311

In genetics, 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 a neuroreceptor, and several scientific studies have investigated the effect of the genetic variation on personality, e.g., personality traits measured with the Temperament and Character Inventory[1][2][3][4] or with a psychological task measuring impulsive behavior.[5] The SNP has also been investigated in rheumatology studies.[6][7]

SNP: rs6311
Name(s)-1438G/A, -1438A/G, A-1438G, G-1438A
GeneHTR2A
Chromosome13
External databases
EnsemblHuman SNPView
dbSNP6311
HapMap6311
SNPedia6311
SzGeneMeta-analysis
Overview

Some research studies may refer to this gene variation as a C/T SNP,[2] while others refer to it as a G/A polymorphism in the promoter region, thus writing it as, e.g., −1438 G/A or 1438G>A.[8][9][10]

As of 2008, meta-analysis of research studies indicates that people with the A-allele may have slightly elevated risk of schizophrenia.[11]

rs6313, rs6314, and rs7997012 are other investigated SNPs in the HTR2A gene.

References
  1. Ham BJ, Kim YH, Choi MJ, Cha JH, Choi YK, Lee MS (January 2004). "Serotonergic genes and personality traits in the Korean population". Neurosci. Lett. 354 (1): 2–5. doi:10.1016/S0304-3940(03)00753-5. PMID 14698468.
  2. Giegling I, Hartmann AM, Möller HJ, Rujescu D (November 2006). "Anger- and aggression-related traits are associated with polymorphisms in the 5-HT-2A gene". Journal of Affective Disorders. 96 (1–2): 75–81. doi:10.1016/j.jad.2006.05.016. PMID 16814396.
  3. Unschuld PG, Ising M, Erhardt A, Lucae S, Kloiber S, Kohli M, Salyakina D, Welt T, Kern N, Lieb R, Uhr M, Binder EB, Müller-Myhsok B, Holsboer F, Keck ME (June 2007). "Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder". Am J Med Genet B. 144B (4): 424–429. doi:10.1002/ajmg.b.30412. PMID 17440930.
  4. Serretti A, Calati R, Giegling I, Hartmann AM, Möller HJ, Colombo C, Rujescu D (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. PMID 17590256.
  5. Nomura M, Kusumi I, Kaneko M, Masui T, Daiguji M, Ueno T, Koyama T, Nomura Y (July 2006). "Involvement of a polymorphism in the 5-HT2A receptor gene in impulsive behavior". Psychopharmacology. 187 (1): 30–35. doi:10.1007/s00213-006-0398-z. PMID 16767413.
  6. Tander B, Gunes S, Boke O, Alayli G, Kara N, Bagci H, Canturk F (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. PMID 18196244.
  7. Kling A, Seddighzadeh M, Ärlestig L, Alfredsson L, Rantapää-Dahlqvist S, Padyukov L (2007). "Genetic variations in the serotonin 5-HT2A receptor gene (HTR2A) are associated with rheumatoid arthritis". Ann. Rheum. Dis. 67 (8): 1111–5. doi:10.1136/ard.2007.074948. PMID 18006541.
  8. Reynolds CA, Jansson M, Gatz M, Pedersen NL (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. PMID 16298250.
  9. Halder I, Muldoon MF, Ferrell RE, Manuck SB (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. PMC 3237193. PMID 18370802.
  10. Saiz PA, Garcia-Portilla MP, Arango C, Morales B, Bascaran MT, Martinez-Barrondo S, Florez G, Sotomayor E, Paredes B, Alvarez C, San Narciso G, Carreño E, Bombin I, Alvarez V, Coto E, Fernandez JM, Bousoño M, Bobes J (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. PMID 18191318.
  11. "Meta-Analysis of All Published Schizophrenia-Association Studies (Case-Control Only) rs6311". Schizophrenia Research Forum. Retrieved 2008-06-10.


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