Rs6313

Infobox Single nucleotide polymorphism
rsid = 6313
name_1 = T102C
name_2 = 102T/C
name_3 = C102T
name_4 = 102C/T
name_5 = g.102T>C
gene = HTR2A
chromosome = 13
region = Exon 1
alfred = SI000324J
alzgene_geneid = 218
alzgene_polyid = 564
szgene_geneid = 293
szgene_polyid = 1862
In genetics, rs6313 also called T102C or C102T is a gene variation—a single nucleotide polymorphism (SNP)—in the human "HTR2A" gene that codes for the 5-HT2A receptor.The SNP is a synonymous substitution located in exon 1 of the gene where it is involved in coding the 34th amino acid as serine. [Cite web
url = http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=3356
title = SNP linked to Gene HTR2A
publisher = NCBI
]

As 5-HT2A is a neuroreceptor the SNP has been investigation in connection with brain functions and neuropsychiatric disorders, and it is perhaps the most investigated SNP for its gene.Two other SNPs in HTR2A have also received much attention: rs6311 and His452Tyr (rs6314).A less well investigated SNP of this gene is rs7997012.

Meta-analyses seem to indicate that the SNP is not directly associated with 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) rs6313
publisher = Schizophrenia Research Forum
accessdate = 2008-06-10
] not with Alzheimer's Disease, [Cite web
url = http://www.alzforum.org/res/com/gen/alzgene/meta.asp?geneID=218
title = META-ANALYSIS OF ALL PUBLISHED AD ASSOCIATION STUDIES (CASE-CONTROL ONLY) rs6313
publisher = Alzheimer Research Forum
accessdate = 2008-06-16
] and two initial studies seem to indicate that it is not associated with Parkinson's Disease. [Cite web
author = Bagade S, Allen NC, Tanzi R, Bertram L
url = http://www.pdgene.org/geneoverview.asp?geneid=59
title = GENE OVERVIEW OF ALL PUBLISHED PD-ASSOCIATION STUDIES FOR HTR2A
publisher = The PDGene Database. The Michael J. Fox Foudation for Parkinson's Research
accessdate = 2008-06-16
]

Individual studies

Many individual studies investigate possible effects of the polymorphism on, say, a personality trait or a disorder.These may or may not find a significant association, that will need to be replicated in further studies before any major conclussion is attempted.

Examples of individual studies are: A genetic study has found higher extraversion personality score among borderline personality disorder patients for the C-allele. [Cite journal
author = Xingqun Ni, Ramprasad Bismil, Kirsten Chan, Tricia Sicard, Natalie Bulgin, Shelley McMain and James L. Kennedy
title = Serotonin 2A receptor gene is associated with personality traits, but not to disorder, in patients with borderline personality disorder
journal = Neuroscience Letters
volume = 408
issue = 3
year = 2006
month = November
pages = 214–219
doi = 10.1016/j.neulet.2006.09.002
] Another study found a slight association with novelty seeking among Italian mood disorder patients, [Cite journal
author = Alessandro Serretti, Raffaella Calati, Ina Giegling, Annette M. Hartmann, Hans-Jürgen Möller, Cristina Colombo and Dan Rujescu
title = 5-HT2A 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
] whereas a German study noted association with the trait "reward dependence". [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 Müller-Myhsok, Florian Holsboer, Martin E. Keck
title = Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder
journal =
volume = 114B
issue = 4
pages = 424–429
url = http://www3.interscience.wiley.com/journal/114210870/abstract
doi = 10.1002/ajmg.b.30412
] A Chinese study found no association with suicidal behavior. [Cite journal
author = Jing Zhang, Yifeng Shen, Guang He, Xingwang Li, Junwei Meng, Shengzhen Guo, Huafang Li, Niufan Gu, Guoyin Feng and Lin He
title = Lack of association between three serotonin genes and suicidal behavior in Chinese psychiatric patients
journal = Progress in Neuro-Psychopharmacology and Biological Psychiatry
volume = 32
issue = 2
month = February
year = 2008
pages = 467–471
doi = 10.1016/j.pnpbp.2007.09.019
] Furthermore, individual studies indicate that the SNP may be associated with rheumatoid arthritis [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
month = November
year = 2007
doi = 10.1136/ard.2007.074948
url = http://ard.bmj.com/cgi/content/abstract/ard.2007.074948v2
] and not likely with the fibromyalgia syndrome. [Cite journal
author = Berna Tander, Sezgin Gunes, Omer Boke, Gamze Alayli, 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
doi = 10.1007/s00296-008-0525-8
pages = 685–691
pmid = 18196244
] One study implicated the C-allele in visual and auditory hallucinations in late-onset Alzheimer's disease. [Cite journal
journal = Human Molecular Genetics
year = 1998
volume = 7
issue = 9
pages = 1507–1509
title = 5-HT2A and 5-HT2C receptor polymorphisms and psychopathology in late onset Alzheimer’s disease
author = Clive Holmes, Maria J. Arranz, John F. Powell, David A. Collier and Simon Lovestone
url = http://hmg.oxfordjournals.org/cgi/content/full/7/9/1507
]

Reference


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