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http://purl.uniprot.org/citations/15946904http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
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Objective

To screen candidate genes, encoding beta2-adrenergic receptor (beta2AR), alpha2C-adrenergic receptor (alpha(2C)AR), norepinephrine transporter (NET), and mitochondrial complex I (COI), for common single nucleotide polymorphisms (SNPs) in patients with postural tachycardia syndrome (POTS); alterations could potentially cause or aggravate orthostatic tachycardia and to relate beta2AR SNPs, known to effect venomotor tone, to heart rate (HR) and blood pressure measurements during 10-min head-up tilt.

Methods

(a) DNA extraction from leukocytes of 29 patients with POTS; (b) Denaturing high performance liquid chromatography analysis to screen for the 12-bp deletion (Del322-325) in alpha(2C)AR and for the alanine to proline mutation at amino acid 457 (Ala457Pro) in NET; (c) Systematic direct sequence analysis to screen for SNPs in beta2AR, NET, and COI.

Results

Three common polymorphisms were abundant in at least one allele in beta2AR resulting in a cysteine to arginine in the 5' promoter region (72% of patients), an arginine to glycine at amino acid-16 (Gly16; 86%), and a glutamine to glutamic acid at amino acid-27 (Glu27; 66%), a frequency that was no different to the normal Caucasian population. Orthostatic HR was significantly greater in patients with Glu27. Diastolic blood pressure (DBP) was significantly lower in a subset of patients with Gly16 whose HR were > or =120 beats/min with head-up tilt. All patients did not show the Ala457Pro mutation of NET; all sequence variants detected in alpha(2C)AR, NET, and COI were not considered causally related to POTS.

Conclusions

Of the candidate genes screened, none harbored a SNP considered to be causally related to POTS. There was significant association of HR and DBP with SNPs of the gene encoding beta2AR; Gly16 or Glu27 could aggravate orthostatic tachycardia by excessive venous pooling."xsd:string
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http://purl.uniprot.org/citations/15946904http://purl.uniprot.org/core/author"Low P.A."xsd:string
http://purl.uniprot.org/citations/15946904http://purl.uniprot.org/core/author"Urrutia R.A."xsd:string
http://purl.uniprot.org/citations/15946904http://purl.uniprot.org/core/author"Camilleri M."xsd:string
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http://purl.uniprot.org/citations/15946904http://purl.uniprot.org/core/author"Nickander K.K."xsd:string
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http://purl.uniprot.org/citations/15946904http://purl.uniprot.org/core/name"Auton Neurosci"xsd:string
http://purl.uniprot.org/citations/15946904http://purl.uniprot.org/core/pages"97-103"xsd:string
http://purl.uniprot.org/citations/15946904http://purl.uniprot.org/core/title"A screen of candidate genes and influence of beta2-adrenergic receptor genotypes in postural tachycardia syndrome."xsd:string
http://purl.uniprot.org/citations/15946904http://purl.uniprot.org/core/volume"120"xsd:string
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