{{short description|Single nucleotide polymorphism in human HTR2A gene}} {{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-HT<sub>2A</sub> 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.<ref>{{Cite web | url = https://www.ncbi.nlm.nih.gov/variation/view/?q=3356[geneid] | title = SNP linked to Gene HTR2A | publisher = NCBI }}</ref>
As 5-HT<sub>2A</sub> is a neuroreceptor the SNP has been investigated 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). The T102C polymorphism has been shown to be in complete linkage disequilibrium with the rs6311 (A-1438G). <ref> {{cite journal |last1 = Saiz |first1 = Pilar A. |last2 = Garcia-Portilla |first2 = Maria P. |last3 = Paredes |first3 = Begoña |last4 = .... Bobes |first4 = Julio |title = Association between the A-1438G polymorphism of the serotonin 2A receptor gene and nonimpulsive suicide attempts |journal = Psychiatric Genetics |volume = 18 |issue = 5 |pages = 213–218 |date = 29 March 2008 |doi = 10.1097/YPG.0b013e3283050ada |pmid = 18797395 |s2cid = 28442642 |hdl = 10651/6366 |hdl-access = free }}</ref> A less well investigated SNP of this gene is rs7997012.
Meta-analyses seem to indicate that the SNP is directly associated with schizophrenia,<ref>{{Cite web | url = http://www.schizophreniaforum.org/res/sczgene/meta.asp?geneID=293 | archive-url = https://archive.today/20130415183845/http://www.schizophreniaforum.org/res/sczgene/meta.asp?geneID=293 | url-status = dead | archive-date = April 15, 2013 | title = Meta-Analysis of All Published Schizophrenia-Association Studies (Case-Control Only) rs6313 | publisher = Schizophrenia Research Forum | access-date = 2008-06-10 }}</ref> with Alzheimer's disease,<ref>{{Cite web |url = http://www.alzforum.org/res/com/gen/alzgene/meta.asp?geneID=218 |archive-url = https://archive.today/20130223125538/http://www.alzforum.org/res/com/gen/alzgene/meta.asp?geneID=218 |url-status = dead |archive-date = 2013-02-23 |title = META-ANALYSIS OF ALL PUBLISHED AD ASSOCIATION STUDIES (CASE-CONTROL ONLY) rs6313 |publisher = Alzheimer Research Forum |access-date = 2008-06-16 }}</ref> and two initial studies seem to indicate that it is not associated with Parkinson's disease.<ref>{{Cite web |vauthors = 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 Foundation for Parkinson's Research |access-date = 2008-06-16 |url-status = dead |archive-url = https://web.archive.org/web/20110727170204/http://www.pdgene.org/geneoverview.asp?geneid=59 |archive-date = 2011-07-27 }}</ref>
There have been multiple studies of the effect of this SNP on clozapine treatment response in schizophrenia.<ref>{{Cite journal | author = John P. A. Ioannidis, Evangelia E. Ntzani, Thomas A. Trikalinos & Despina G. Contopoulos-Ioannidis | title = Replication validity of genetic association studies | journal = Nature Genetics | volume = 29 | issue = 3 | pages = 306–309 |date=November 2001 | doi = 10.1038/ng749 | pmid = 11600885 | s2cid = 6742347 }}</ref> A meta-analysis published in 1998 found an association.<ref>{{Cite journal | author = M. J. Arranz, J. Munro, P. Sham, G. Kirov, R. M. Murray, D. A. Collier & R. W. Kerwin | title = Meta-analysis of studies on genetic variation in 5-HT2A receptors and clozapine response | journal = Schizophrenia Research | volume = 32 | issue = 2 | pages = 93–99 |date=July 1998 | pmid = 9713904 | doi = 10.1016/S0920-9964(98)00032-2 | s2cid = 40604242 }}</ref>
== Individual studies == Many individual studies have been done to investigate possible effects of the rs6313 polymorphism on phenotypes such as personality traits or disorders and their endophenotypes.
The C-allele has been associated with higher extraversion personality scores among borderline personality disorder <ref>{{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 |date=November 2006 | pages = 214–219 | doi = 10.1016/j.neulet.2006.09.002 | pmid = 17000047 | s2cid = 25025900 }}</ref> patients and the presence of visual and auditory hallucinations in patients with late-onset Alzheimer's disease. <ref>{{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 | doi = 10.1093/hmg/7.9.1507 | pmid=9700207 | doi-access = free }}</ref> Multiple studies have found that individuals with schizophrenia who are homozygous for the C-allele tend to do worse on working memory tasks than do individuals with a T-allele. <ref>{{Cite journal | author = Alfimova, M. V., Monakhov, M. V., Abramova, L. I., Golubev, S. A., & Golimbet, V. E. | title = Polymorphism of serotonin receptor genes (5-HTR2A) and dysbindin (DTNBP1) and individual components of short-term verbal memory processes in schizophrenia. | journal = Neuroscience and Behavioral Physiology | volume = 40 | issue = 8 | year = 2012 | pages = 934–940 | doi=10.1007/s11055-010-9348-7| pmid = 20683774 | s2cid = 13590411 }}</ref> <ref>{{Cite journal | author = Golimbet, V. E., Alfimova, M. V., Kaleda, V. G., Abramova, L. I., Korovaitseva, G. I., Lavrushina, O. M.| title = Schizoaffective psychosis and schizophrenia with- or without affective syndrome: A comparative clinical, neuropsychological and molecular-genetic study. | journal = NOVA Science | year = 2009 | pages = 70–87 |display-authors=etal}}</ref> <ref>{{Cite journal | author = Gong, P., Li, J., Wang, J., Lei, X., Chen, D., Zhang, K.| title = Variations in 5-HT2A influence spatial cognitive abilities and working memory. | journal = Canadian Journal of Neurological Sciences | volume = 38 | year = 2011 | issue = 2 | pages = 303–308 | doi = 10.1017/S0317167100011513 | pmid = 21320838 | s2cid = 522327 |display-authors=etal| doi-access = free }}</ref> Rs6313 has also been shown to be associated with novelty seeking among Italian mood disorder patients <ref>{{Cite journal | author = Alessandro Serretti, Raffaella Calati, Ina Giegling, Annette M. Hartmann, Hans-Jürgen Möller, Cristina Colombo and Dan Rujescu | title = 5-HT<sub>2A</sub> SNPs and the Temperament and Character Inventory | journal = Progress in Neuro-Psychopharmacology and Biological Psychiatry | volume = 31 | issue = 6 |date=August 2007 | pages = 1275–1281 | doi = 10.1016/j.pnpbp.2007.05.008 | pmid = 17590256 | s2cid = 2646380 }}</ref> and reward dependence in a German population. <ref>{{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 = American Journal of Medical Genetics Part B | volume = 144B | issue = 4 | pages = 424–429 | url = http://www3.interscience.wiley.com/journal/114210870/abstract | archive-url = https://archive.today/20130105063530/http://www3.interscience.wiley.com/journal/114210870/abstract | url-status = dead | archive-date = 2013-01-05 | doi = 10.1002/ajmg.b.30412 | year = 2007 | pmid = 17440930 | s2cid = 10374372 | url-access = subscription }}</ref> The SNP may also be associated with rheumatoid arthritis. <ref>{{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 (HTR2<sub>A</sub>) are associated with rheumatoid arthritis | journal = Ann Rheum Dis |date=November 2007 | doi = 10.1136/ard.2007.074948 | url = http://ard.bmj.com/cgi/content/abstract/ard.2007.074948v2 | volume = 67 | pages = 1111–5 | pmid = 18006541 | issue = 8 | s2cid = 3081132 | doi-access = free }}</ref> One study found no association between the SNP and suicidal behavior in a Chinese population, <ref>{{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 |date=February 2008 | pages = 467–471 | doi = 10.1016/j.pnpbp.2007.09.019 | pmid = 17964050 | s2cid = 26936650 }}</ref> and another found no association with fibromyalgia syndrome. <ref>{{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 |date=May 2008 | doi = 10.1007/s00296-008-0525-8 | pages = 685–691 | pmid = 18196244 | s2cid = 29817254 }}</ref>
==References== {{Reflist}}
Category:SNPs on chromosome 13
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