Gene Report

Basic Info
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
Gene related studies (count: 22)
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
Gene functional annotation
Gene related GO terms (count: 47)

GO terms by PBA (count: 3)

GO terms by database search (count: 44)

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 2)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 16)

Related other genetic factors
Gene related SNPs (count: 52)

Literature-origin SNPs (count: 13)

LD-proxies (count: 39)

Gene related CNVs (count: 0)

Gene related other variants (count: 17)

Gene related regions (count: 4)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 4)

Overlap with SZ from candidate gene intersection analysis (count: 58)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 4)

Overlap with MDD from candidate gene intersection analysis (count: 7)

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Region: chr13:46831550..46897076 View in gBrowse
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