No association between the common calcium-sensing receptor polymorphism rs1801725 and irritable bowel syndrome. Issue 1 (December 2015)

• Record Type: Journal Article
• Authors: Romero, Philipp; Schmitteckert, Stefanie; Wouters, Mira; Houghton, Lesley; Czogalla, Bastian; Sayuk, Gregory; Boeckxstaens, Guy; Guenther, Patrick; Holland-Cunz, Stefan; Niesler, Beate
• Is Part Of: BMC medical genetics. Volume 16:Issue 1(2015)
• Page Start: 1
• Page End: 5
• Publication Date: 2015-12
• Subjects: Calcium-sensing receptor -- Irritable bowel syndrome -- Gut motility; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1186/s12881-015-0256-0
• Languages: English
• ISSNs: 1471-2350

Abstract

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 functionalCASR 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.