Rs6311

Infobox Single nucleotide polymorphism
rsid = 6311
name_1 = -1438G/A
name_2 = -1438A/G
name_3 = A-1438G
name_4 = G-1428A
gene = HTR2A
chromosome = 13
szgene_geneid = 293
szgene_polyid = 1871In genetics rs6311 is a gene variation—a single nucleotide polymorphism (SNP)—in the human "HTR2A" gene that codes for the 5-HT_2A receptor.5-HT_2A is neuroreceptor and a number of brain-related investigations have been reported, e.g., about personality traits measured with the Temperament and Character Inventory [Cite journal
author = Byung-Joo Ham, Yong-Ho Kim, Myung-Jin Choi, Ji-Hyun Cha, Yun-Kyeung Choi & Min-Soo Lee
title = Serotonergic genes and personality traits in the Korean population
journal = Neuroscience Letters
volume = 354
issue = 1
pages = 2–5
year = 2004
month = January
pmid = 14698468] Cite journal
author = Ina Giegling, Annette M. Hartmann, Hans-Jürgen Möller and Dan Rujescu
title = Anger- and aggression-related traits are associated with polymorphisms in the 5-HT-2A gene
journal = Journal of Affective Disorders
volume = 96
issues = 1-2
month = November
year = 2006
pages = 75–81
doi = 10.1016/j.jad.2006.05.016] [Cite journal
author = Paul G. Unschuld, Marcus Ising, Angelika Erhardt, Susanne Lucae, Stefan Kloiber, Martin Kohli, Daria Salyakina, Tobias Welt, Nikola Kern, Roselind Lieb, Manfred Uhr, Elisabeth B. Binder, Bertram Muller-Myhsok, Florian Holsboer & Martin E. Keck
title = Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder
journal =
volume = 144B
issue = 4
pages = 424–429
year = 2007
month = June
doi = 10.1002/ajmg.b.30412
pmid = 17440930] [Cite journal
author = Alessandro Serretti, Raffaella Calati, Ina Giegling, Annette M. Hartmann, Hans-Jürgen Möller, Cristina Colombo and Dan Rujescu
title = 5-HT_2A SNPs and the Temperament and Character Inventory
journal = Progress in Neuro-Psychopharmacology and Biological Psychiatry
volume = 31
issue = 6
month = August
year = 2007
pages = 1275–1281
doi = 10.1016/j.pnpbp.2007.05.008 ] or a psychological task measuring impulsive behavior. [Cite journal
author = Michio Nomura, Ichiro Kusumi, Masayuki Kaneko, Takuya Masui, Makoto Daiguji, Takeji Ueno, Tsukasa Koyama & Yasuyuki Nomura
title = Involvement of a polymorphism in the 5-HT2A receptor gene in impulsive behavior
journal = Psychopharmacology
volume = 187
issue = 1
pages = 30–35
year = 2006
month = July
doi = 10.1007/s00213-006-0398-z
pmid = 16767413] But the SNP has also been investigated in rheumatology studies. [Cite journal
author = Berna Tander, Sezgin Gunes, Omer Boke, Gamze Alayli1, Nurten Kara, Hasan Bagci and Ferhan Canturk
title = Polymorphisms of the serotonin-2A receptor and catechol-O-methyltransferase genes: a study on fibromyalgia susceptibility
journal = Rheumatology International
volume = 28
issue = 7
month = May
year = 2008
pages = 685–691
doi = 10.1007/s00296-008-0525-8] [Cite journal
author = Anders Kling, Maria Seddighzadeh, Lisbeth Ärlestig, Lars Alfredsson, Solbritt Rantapaa-Dahlqvist and Leonid Padyukov
title = Genetic variations in the serotonin 5-HT2A receptor gene (HTR2A) are associated with rheumatoid arthritis
journal = Ann. Rheum. Dis.
year = 2007
doi = 10.1136/ard.2007.074948
pmid = 18006541]

Some research studies may refer to this gene variation as a C/T SNP,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. [Cite journal
author = Chandra A. Reynolds, Mårten Jansson, Margaret Gatz and Nancy L. Pedersen
title = Longitudinal change in memory performance associated with "HTR2A" polymorphism
journal = Neurobiology of Aging
volume = 27
issue = 1
month = January
year = 2006
pages = 150–154
doi = 10.1016/j.neurobiolaging.2004.12.009 ] [Cite journal
author = Indrani Halder, Matthew F. Muldoon, Robert E. Ferrell & Stephen B. Manuck
title = Serotonin Receptor 2A ("HTR2A") Gene Polymorphisms Are Associated with Blood Pressure, Central Adiposity, and the Metabolic Syndrome
journal = Metabolic Syndrome and Related Disorders
month = December
year = 2007
volume = 5
issue = 4
pages = 323–330
doi = 10.1089/met.2007.0008.] [Cite journal
author = 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
title = Association study between obsessive–compulsive disorder and serotonergic candidate genes
journal = Progress in Neuro-Psychopharmacology and Biological Psychiatry
volume = 32
issue = 3
month = April
year = 2008
pages = 765–770
doi = 10.1016/j.pnpbp.2007.12.005 ]

As of 2008 meta-analysis of research studies indicates that people with the A-allele may have slightly elevated risk of schizophrenia. [Cite web
url = http://www.schizophreniaforum.org/res/sczgene/meta.asp?geneID=293
title = Meta-Analysis of All Published Schizophrenia-Association Studies (Case-Control Only) rs6311
publisher = Schizophrenia Research Forum
accessdate = 2008-06-10]

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

References