Allelic variations of the human histamine H2 receptor gene

Orange, Paul R.; Heath, Paul R.; Wright, Simon; Pearson, R. A.

doi:10.1097/00001756-199605170-00015

Cited by 17 publications

(13 citation statements)

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“…The Taq I restriction site previously reported to be introduced by a A649G transition 8,9 could not be found following digestion of the 266-bp fragment E. The two DNA fragments of 149 bp and 117 bp that were expected to be generated by this Taq I polymorphism were observed neither in the Swedish (n = 53) nor in the French (n = 140) individuals (data not shown).…”

Section: Frequencies Of Human H 2 Receptor Gene Polymorphisms In Contmentioning

confidence: 79%

“…The polymorphism observed at position 649 was an adenine/guanidine transition introducing a On the other hand, we identified within the coding region of the gene, a G543A transition creating a Acc I polymorphism that was not reported in the UK population. 8 However, the corresponding new allelic variant did not change the amino acid sequence of the receptor and occurred with a low frequency both in the Swedish and French population.…”

Section: Discussionmentioning

confidence: 92%

“…8 Direct sequencing of PCR fragments from five subjects first revealed three base substitutions at positions 649, 692 and 802 of the gene. Three additional transitions at positions 398, 525 and 620 were also found after sequencing of a cloned PCR product from one subject but were not confirmed by direct sequencing.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, DNA fragment E was also analyzed by Taq I restriction endonuclease digestion as described. 8,9 The restriction endonucleases used were from New England Biolabs (St Quentin en Yvelines, France). The products of each digestion were analyzed by separation on a 2% agarose gel and staining with ethidium bromide.…”

Section: Analysis Of Polymorphic Restriction Enzyme Sitesmentioning

confidence: 99%

“…[5][6][7] Recently, a polymorphism leading to an amino acid substitution within the third intracellular loop of the H2R was found to be associated with schizophrenia. 8,9 We have further examined the presence of allelic variants in the coding and promoter regions of the H2R gene and investigated their putative association with schizophrenia.…”

Section: Introductionmentioning

confidence: 99%

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Histamine H2 receptor gene variants: lack of association with schizophrenia

et al. 2000

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A role of histaminergic neuronal systems in schizophrenia was suggested by an association with several polymorphisms located in the coding region of the histamine H 2 -receptor (H2R) gene (Orange et al, Mol Psychiatry 1996; 1: 466-469). Using either the reference method of direct sequencing or restriction endonuclease digestion of PCR products amplified from DNA, we could not confirm the existence of these polymorphisms in 53 Swedish controls, 52 French controls and 88 French schizophrenics. In contrast, we detected a G543A transition in the coding region of the gene that was not found in the British population. This allelic variation, which was observed in 15% of the controls with no homozygotes, did not change the amino acid sequence of the receptor. We also analyzed a 1.8-kb nucleotide sequence of the promoter region in which we detected two additional polymorphisms that may modulate the expression of the H2R gene. The first one was a A-592G transition located in the minimal promoter of the gene and found in ෂ10% of controls with no homozygotes. The second one was a G-1018A transition located in an enhancer element of the promoter and was found in ෂ20-30% of controls (with ෂ2-4% homozygotes). DNA analysis of the 88 French schizophrenic subjects revealed that the incidence of the three polymorphisms was not significantly different in this population. In conclusion, the present findings may suggest a surprisingly high variability of the H2R gene polymorphisms in different geographical areas but do not support an association of these allelic variations with schizophrenia. Molecular Psychiatry (2000) 5, 159-164.

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Section: Frequencies Of Human H 2 Receptor Gene Polymorphisms In Contmentioning

confidence: 79%

Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Analysis Of Polymorphic Restriction Enzyme Sitesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Histamine H2 receptor gene variants: lack of association with schizophrenia

et al. 2000

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Histamine Receptors and Signaling

Hegyesi¹,

Darvas²,

Thurmond³

et al.

Springer Series in Biophysics

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Genetic Polymorphisms in the Histamine Receptor Family

Micallef

Sasse

2016

Histamine Receptors

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Histamine is a biogenic amine which has an inherent biological importance in many physiological functions, both in the central nervous system and in the periphery. With the new genomic era we are facing, personalised care and treatment is becoming one of the major focal points in research. This chapter focuses on the genetic variations and polymorphisms localised on genes encoding for human histamine receptors (HRHs) where it provides an up to date collection of polymorphisms found on genes encoding HRHs and their association to diseases. There is a clear need to highlight the specific implications polymorphisms have on this family of G-protein coupled receptors. This book chapter collates recent and other important publications related to polymorphisms and genetic linkage of histamine receptors. New association studies have been published for the gene encoding the HRH4, linking SNPs to asthma, cancer and atopic dermatitis. For example, rs17187619, rs527790, rs487202, rs1421125 and rs615283 have been associated with infection-induced in asthma patients. Other SNPs were found to harbour a link in breast cancer rs623590, rs11662595, rs1421125. With the increasing interest in cancer research, a polymorphism (rs2607474) discovered on the gene encoding for HRH2 was also found to have an association to gastric atrophy leading to gastric cancer. Looking into pharmacogenetics, a linkage was found between risperidone treatment and histamine receptor 3 (HRH3), where rs3787430 could be a potential biological marker for treatment. With these significant genetic variations recently discovered and their potential contribution to the common diseases, this chapter gathers the knowledge to date for SNPs identified on the human histamine receptors.

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Allelic variations of the human histamine H2 receptor gene

Cited by 17 publications

References 0 publications

Histamine H2 receptor gene variants: lack of association with schizophrenia

Histamine H2 receptor gene variants: lack of association with schizophrenia

Histamine Receptors and Signaling

Genetic Polymorphisms in the Histamine Receptor Family

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