Rs6311 Explained

Rsid:	6311
Name 1:	-1438G/A
Name 2:	-1438A/G
Name 3:	A-1438G
Name 4:	G-1438A
Gene:	HTR2A
Chromosome:	13
Szgene Geneid:	293
Szgene Polyid:	1871

In 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 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]}

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]}

, 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.

Notes and References

1. Ham BJ, Kim YH, Choi MJ, Cha JH, Choi YK, Lee MS . Serotonergic genes and personality traits in the Korean population . Neurosci. Lett. . 354 . 1 . 2–5 . January 2004 . 14698468 . 10.1016/S0304-3940(03)00753-5. 22448256 .
2. Giegling I, Hartmann AM, Möller HJ, Rujescu D . Anger- and aggression-related traits are associated with polymorphisms in the 5-HT-2A gene . . 96 . November 2006 . 75–81 . 10.1016/j.jad.2006.05.016 . 1–2 . 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 . Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder . . 144B . 4 . 424–429 . June 2007 . 10.1002/ajmg.b.30412 . 17440930. 10374372 .
4. Serretti A, Calati R, Giegling I, Hartmann AM, Möller HJ, Colombo C, Rujescu D . 5-HT_2A SNPs and the Temperament and Character Inventory . . 31 . 6 . August 2007 . 1275–1281 . 10.1016/j.pnpbp.2007.05.008 . 17590256. 2646380 .
5. Nomura M, Kusumi I, Kaneko M, Masui T, Daiguji M, Ueno T, Koyama T, Nomura Y . Involvement of a polymorphism in the 5-HT2A receptor gene in impulsive behavior . Psychopharmacology . 187 . 1 . 30–35 . July 2006 . 10.1007/s00213-006-0398-z . 16767413. 12155339 .
6. Tander B, Gunes S, Boke O, Alayli G, Kara N, Bagci H, Canturk F . Polymorphisms of the serotonin-2A receptor and catechol-O-methyltransferase genes: a study on fibromyalgia susceptibility . . 28 . 7 . May 2008 . 685–691 . 10.1007/s00296-008-0525-8 . 18196244. 29817254 .
7. Kling A, Seddighzadeh M, Ärlestig L, Alfredsson L, Rantapää-Dahlqvist S, Padyukov L . Genetic variations in the serotonin 5-HT2A receptor gene (HTR2A) are associated with rheumatoid arthritis . . 2007 . 10.1136/ard.2007.074948 . 18006541 . 67 . 1111–5 . 8. 3081132 . free .
8. Reynolds CA, Jansson M, Gatz M, Pedersen NL . Longitudinal change in memory performance associated with HTR2A polymorphism . . 27 . 1 . January 2006 . 150–154 . 10.1016/j.neurobiolaging.2004.12.009 . 16298250. 32745716 .
9. Halder I, Muldoon MF, Ferrell RE, Manuck SB . Serotonin Receptor 2A (HTR2A) Gene Polymorphisms Are Associated with Blood Pressure, Central Adiposity, and the Metabolic Syndrome . . December 2007 . 5 . 4 . 323–330 . 10.1089/met.2007.0008 . 18370802 . 3237193.
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 . Association study between obsessive–compulsive disorder and serotonergic candidate genes . . 32 . 3 . April 2008 . 765–770 . 10.1016/j.pnpbp.2007.12.005 . 18191318. 35024576 .
11. Web site: Meta-Analysis of All Published Schizophrenia-Association Studies (Case-Control Only) rs6311 . . 2008-06-10.