Document Detail


A724A polymorphism of sarco(endo)plasmic reticulum Ca2+-ATPase 2 (SERCA2) in hypertensive patients.
MedLine Citation:
PMID:  17439322     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Impaired function of calcium ion transporter sarco(endo)plasmic reticulum Ca2+-ATPase2 (SERCA2), encoded by ATP2A2 gene, was observed in hypertension. The aim of this study was to screen for mutations in the ATP2A2 gene, in hypertensive patients compared to healthy controls.
METHODS: The frequency of a novel mutation in exon 15 of ATP2A2, coding SERCA2, was studied in 107 hypertensive patients and a control group of 50 healthy volunteers. 24-h ambulatory blood-pressure monitoring (ABPM) was carried out. ATP2A2 genotyping was performed by denaturing HPLC and sequencing.
RESULTS: In exon 15 of the ATP2A2 gene, a novel c.2171G>A polymorphism was identified that does not change the amino acid sequence. The frequency of the A allele was significantly higher in normotensive controls than in hypertensive patients (p=0.017). GA genotype carriers demonstrated a tendency towards lower blood pressure values in the doctor's office (p=0.367 systolic, p=0.439 diastolic blood pressure) and measured by ABPM.
CONCLUSIONS: Our results suggest a protective role of the A724A (c.2171G>A) polymorphism of ATP2A2 in subjects without hypertension.
Authors:
Beata Kiec-Wilk; Aldona Dembinska-Kiec; Agnieszka Olszanecka; Marek Bodzioch; Gerd Schmitz; Kalina Kawecka-Jaszcz
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical chemistry and laboratory medicine : CCLM / FESCC     Volume:  45     ISSN:  1434-6621     ISO Abbreviation:  Clin. Chem. Lab. Med.     Publication Date:  2007  
Date Detail:
Created Date:  2007-04-18     Completed Date:  2007-06-14     Revised Date:  2012-07-12    
Medline Journal Info:
Nlm Unique ID:  9806306     Medline TA:  Clin Chem Lab Med     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  467-70     Citation Subset:  IM    
Affiliation:
Clinical Biochemistry Department, Medical College Jagiellonian University, Krakow, Poland. mbbkiec@cyf-kr.edu.pl
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Base Sequence
DNA Primers
Female
Humans
Hypertension / enzymology*,  genetics
Male
Middle Aged
Polymorphism, Genetic*
Sarcoplasmic Reticulum Calcium-Transporting ATPases / genetics*
Chemical
Reg. No./Substance:
0/DNA Primers; EC 3.6.3.8/ATP2A2 protein, human; EC 3.6.3.8/Sarcoplasmic Reticulum Calcium-Transporting ATPases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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