Journal article
No association between the common calcium-sensing receptor polymorphism rs1801725 and irritable bowel syndrome.
- Romero P Department of Surgery, Division of Paediatric Surgery, University of Heidelberg, Heidelberg, Germany. Philipp.Romero@med.uni-heidelberg.de.
- Schmitteckert S Department of Human Molecular Genetics, Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, Heidelberg, 69120, Germany. S.Schmitteckert@med.uni-heidelberg.de.
- Wouters MM TARGID, University Hospital Leuven, Leuven, Belgium. mira.wouters@med.kuleuven.be.
- Houghton LA University of Manchester, Manchester, UK & Mayo Clinic, Jacksonville, USA. Houghton.Lesley@mayo.edu.
- Czogalla B Department of Human Molecular Genetics, Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, Heidelberg, 69120, Germany. bastian.czogalla@med.uni-heidelberg.de.
- Sayuk GS Washington University School of Medicine, St. Louis, USA. gsayuk@dom.wustl.edu.
- Boeckxstaens GE TARGID, University Hospital Leuven, Leuven, Belgium. guy.boeckxstaens@med.kuleiven.be.
- Guenther P Department of Surgery, Division of Paediatric Surgery, University of Heidelberg, Heidelberg, Germany. Patrick.Guenther@med.uni-heidelberg.de.
- Holland-Cunz S Department of Paediatric Surgery, University of Basel, Basel, Switzerland. Stefan.Holland-Cunz@ukbb.ch.
- Niesler B Department of Human Molecular Genetics, Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, Heidelberg, 69120, Germany. Beate.Niesler@med.uni-heidelberg.de.
- 2015-12-15
Published in:
- BMC medical genetics. - 2015
Adolescent
Adult
Aged
Belgium
Case-Control Studies
Female
Gene Frequency
Genetic Association Studies
Humans
Irritable Bowel Syndrome
Male
Middle Aged
Polymorphism, Single Nucleotide
Receptors, Calcium-Sensing
United Kingdom
United States
Young Adult
English
BACKGROUND
The calcium-sensing receptor (CaSR) is a calcium (Ca(2+)) sensitive G protein-coupled receptor implicated in various biological processes. In particular, it regulates Ca(2+)/Mg(2+)- homeostasis and senses interstitial Ca(2+) levels and thereby controls downstream signalling cascades. Due to its expression in the gut epithelium, the enteric nervous system and smooth muscles and its key function in regulation and coordination of muscular contraction and secretion, it represents an excellent candidate gene to be investigated in the pathophysiology of irritable bowel syndrome (IBS). Disturbed CaSR structure and function may impact gastrointestinal regulation of muscular contraction, neuronal excitation and secretion and consequently contribute to symptoms seen in IBS, such as disordered defecation as well as disturbed gut motility and visceral sensitivity.
METHODS
We have therefore genotyped the functional CASR SNP rs1801725 in three case control samples from the UK, Belgium and the USA.
RESULTS
Genotype frequencies showed no association in the three genotyped case-control samples, neither with IBS nor with IBS subtypes.
CONCLUSIONS
Although we could not associate the SNP to any of the established bowel symptom based IBS subtypes we cannot rule out association to altered Ca(2+) levels and disturbed secretion and gut motility which were unfortunately not assessed in the patients genotyped. This underlines the necessity of a more detailed phenotyping of IBS patients and control individuals in future studies.
The calcium-sensing receptor (CaSR) is a calcium (Ca(2+)) sensitive G protein-coupled receptor implicated in various biological processes. In particular, it regulates Ca(2+)/Mg(2+)- homeostasis and senses interstitial Ca(2+) levels and thereby controls downstream signalling cascades. Due to its expression in the gut epithelium, the enteric nervous system and smooth muscles and its key function in regulation and coordination of muscular contraction and secretion, it represents an excellent candidate gene to be investigated in the pathophysiology of irritable bowel syndrome (IBS). Disturbed CaSR structure and function may impact gastrointestinal regulation of muscular contraction, neuronal excitation and secretion and consequently contribute to symptoms seen in IBS, such as disordered defecation as well as disturbed gut motility and visceral sensitivity.
METHODS
We have therefore genotyped the functional CASR SNP rs1801725 in three case control samples from the UK, Belgium and the USA.
RESULTS
Genotype frequencies showed no association in the three genotyped case-control samples, neither with IBS nor with IBS subtypes.
CONCLUSIONS
Although we could not associate the SNP to any of the established bowel symptom based IBS subtypes we cannot rule out association to altered Ca(2+) levels and disturbed secretion and gut motility which were unfortunately not assessed in the patients genotyped. This underlines the necessity of a more detailed phenotyping of IBS patients and control individuals in future studies.
- Language
-
- English
- Open access status
- gold
- Identifiers
-
- DOI 10.1186/s12881-015-0256-0
- PMID 26654249
- Persistent URL
- https://sonar.ch/global/documents/232355
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