In: BMC Medical Genetics, 16 (2015), Nr. 110. pp. 1-5. ISSN 1471-2350

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PDF, English Download (439kB) | Lizenz: No association between the common calcium-sensing receptor polymorphism rs1801725 and irritable bowel syndrome by Romero, Philipp ; Schmitteckert, Stefanie ; Wouters, Mira M. ; Houghton, Lesley A. ; Czogalla, Bastian ; Sayuk, Gregory S. ; Boeckxstaens, Guy E ; Günther, Patrick ; Holland-Cunz, Stefan ; Niesler, Beate underlies the terms of Creative Commons Attribution 3.0 Germany

Abstract

Background: The calcium-sensing receptor (CaSR) is a calcium (Ca2+) sensitive G protein-coupled receptor implicated in various biological processes. In particular, it regulates Ca2+/Mg2+- homeostasis and senses interstitial Ca2+ 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 Ca2+ 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.