Gene Report

Approved Symbol	HTR2A
Previous Symbol	HTR2
Symbol Alias	5-HT2A
Approved Name	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
Previous Name	5-hydroxytryptamine (serotonin) receptor 2A
Location	13q14-q21
Position	chr13:46831550-46897076, -1
External Links	HGNC: 5293 Entrez Gene: 3356 Ensembl: ENSG00000102468 UCSC: uc010acr.4
No. of Studies	22 (Positive: 7; Negative: 15; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
McAuley, E. Z.,2009	SNP: rs1923886, rs1928040, rs2224721, rs2770296, rs3125, rs6313, rs6314, rs985933 Haplotype: rs3125 - rs6314 - rs1923886 - rs2224721 - rs2770296()	We found that HTR2A is associated with bipolar disorder. The HTR2A gene should not be excluded as a potential susceptibility gene for bipolar disorder despite a number of conflicting association results.	Positive	Comment on Study
Kishi, T.,2009(b)	SNP: rs1928040, rs2070040, rs6313, rs7997012 Haplotype: rs6313 - rs2070040 - rs1928040 - rs7997012()	In this study, we could detect no evidence of genetic association between 4 markers near HTR2A and MDD and BP, but sample sizes (especially BP) were probably too small to allow a meaningful test.	Negative	Comment on Study
Choi, K. Y., 2010	Other variant: 5-HT2A_promoter_1438A/G	There was a trend towards association between 5-HT2A -1438A/G polymorphism and psychotic symptom in bipolar disorder.	Positive	Comment on Study
Etain, B.,2004	Haplotype: (HTR2A_-1438G/A) - (HTR2A_His452Tyr)() Other variant: HTR2A_-1438A/G, HTR2A_His452Tyr	Our study suggests that the 5HT2AR gene is unlikely to be involved in genetic susceptibility to BPAD but should be further investigated in a pharmacogenetic study.	Negative	Comment on Study
Vincent, J. B.,1999(a)	Other variant: HTR2A_MspI Polymorphism, HTR2A_BbvI Polymorphism	Statistically significant positive associations were found in original Study.	Positive	Comment on Study
Blairy, S.,2000	Other variant: HTR2A_C102T	No contribution of the 5-HTR2a polymorphism on the bipolar disorder emerged.	Negative	Comment on Study
Massat, I.,2000	Other variant: HTR2A_C102T	These results indicate that, in our sample, the 5-HT2A receptor polymorphism studied is unlikely to play a major role in the genetic susceptibility to BPAD.	Negative	Comment on Study
Lee, S. Y., 2012	Other variant: HTR2A_-1438A/G	5-HT2A-1438A/G A/A: P-value = 0.010, OR(95% CI)=3.13(1.31-7.49) in BP-I, P-value = 0.209, OR(95% CI)=1.48(0.80-2.74) in BP-II; 5-HT2A-1438A/G A/G: P-value = 0.019, OR(95% CI)=2.81(1.18-6.66) in BP-I, P-value = 0.165, OR(95% CI)=1.53(0.84-2.78) in BP-II. The regression showed a significant association of the 5-HT2A-1438A/G polymorphisms with BP-I only.	Positive	Comment on Study
De Luca, V., 2007	Other variant: HTR2A_C102T	There was no genetic association between HTR2A T102C with either schizophrenia or bipolar disorder under the assumption of a parent-of-origin effect.	Negative	Comment on Study
Gu, L.,2013	SNP: rs6311	We failed to observe a significant association between HTR2A 21438A/G polymorphism and BD with any genetic model, and there were no statistically significant differences between Caucasians and Asians.	Negative	Comment on Study
Arranz, M. J.,1997	Other variant: HTR2A_C102T, HTR2A_516C/T, HTR2A_His452Tyr, HTR2A_Thr25Asn	No strong associations were found between any of these polymorphisms and bipolar affective disorder. Genetic variation at the 5-HT2A receptor gene does not play a major role in the pathogenesis of the disorder.	Negative	Comment on Study
Xiang, B., 2013	SNP: rs1475196, rs9567747 Haplotype: rs1928038 - rs1475196 - rs9562689 - rs9567747 - rs1328684 - rs1328684(C-A-G-A-G-G), rs1928038 - rs1475196 - rs9562689 - rs9567747 - rs1328684 - rs1328684(C-A-A-G-A-A), rs1928038 - rs1475196 - rs9562689 - rs9567747 - rs1328684 - rs1328684(G-A-G-G-A-A), rs1928038 - rs1475196 - rs9562689 - rs9567747 - rs1328684 - rs1328684(C-C-G-A-A-A), rs1928038 - rs1475196 - rs9562689 - rs9567747 - rs1328684 - rs1328684(C-A-G-A-A-A)	Global P-value=0.003, X<sup>2</sup>=15.89, df=4. Our results indicate that the HTR2A gene in the serotonin pathway play important roles in susceptibility to BP-I.	Positive	Comment on Study
Gutierrez, B.,1997(a)	Other variant: HTR2A_C102T, HTR2A_516C/T, HTR2A_His452Tyr, HTR2A_Thr25Asn	No significant association was observed between any of the four polymorphisms at the HTR2A locus, whether tested individually or as haplotypes, and bipolar affective disorder. The lack of association suggests that HTR2A is not a major risk factor for bipolar affective disorder.	Negative	Comment on Study
Abdolmaleky, H. M.,2011	Other variant: HTR2A_C102T	The allele frequency of the T102C polymorphism established no significant differences between the patients and controls.Epigenetic dysregulation of HTR2A may contribute to SCZ, BD and earlier age of disease onset.	Negative	Comment on Study
Ni, X.,2002	Haplotype: (5-HT2A_102T/C) - ( 5-HT2A_His452Tyr)((5-HT2A_102C)-(5-HT2A_452His)), (5-HT2A_102T/C) - ( 5-HT2A_His452Tyr)((5-HT2A_102C)-(5-HT2A_452Tyr)), (5-HT2A_102T/C) - ( 5-HT2A_His452Tyr)((5-HT2A_102T)-(5-HT2A_452His)), (5-HT2A_102T/C) - ( 5-HT2A_His452Tyr)((5-HT2A_102T)-(5-HT2A_452Tyr)) Other variant: 5-HT2A _T102C, 5-HT2A_His452Tyr	At present, results of this study suggest that the 5-HT2A is unlikely to play a major role in the genetic susceptibility to BP.	Negative	Comment on Study
Tan J., 2014	SNP: rs6313	The T102C polymorphism in HTR2A showed no association with BD.	Negative	Comment on Study
Yosifova, A.,2009	SNP: rs6313	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study
Fallin, M. D.,2005		9 SNP typed, Median D'=0.29, Median r<sup>2</sup> =0.01, 4 LD blocks, 0.61 block coverage, there exists SNP or haplotype nominal P-value > 0.01 and <0.05 in SZ/SZA and all SNP or haplotype P-value > 0.05 in BP.. This gene is suggestive to SZ/SZA , not suggestive to BP.	Negative	Comment on Study
Bonnier, B.,2002	Other variant: HTR2A_-1438A/G	The association detected in this study suggests that the 5-HT(2A) receptor gene may play a role in the genetic susceptibility to bipolar disorder, through a specific subgroup of bipolar type I patients with lower risk of suicidal behavior.	Positive	Comment on Study
Murphy, V. E.,2001	Other variant: HTR2A_HpaII Polymorphism	No evidence was found for an association of 5HT-2A with bipolar affective disorder under the assumption of no imprinting and of imprinting.	Negative	Comment on Study
Tut, T. G.,2000	Other variant: HTR2A_C102T	Our finding indicates that the 5HTR2A receptor gene polymorphism is not a major factor in the genetic susceptibility to BPAD in Singaporean Chinese.	Negative	Comment on Study
Ranade, S. S.,2003	Other variant: HTR2A_1018578T/G, HTR2A_1018579A/G, HTR2A_1360020G/T, HTR2A_-1438A/G, HTR2A_1854352A/G, HTR2A_74C/A, HTR2A_C102T, HTR2A_1354C/T, HTR2A_516C/T	Our results support an etiological role for HTR2A in BD1. In view of the relatively small sample, replicate studies using large samples are needed.	Positive	Comment on Study

Region: chr13:46831550..46897076 View in gBrowse