These authors contributed equally to this work.
Preliminary evidence of an association between the functional c-kit rs6554199 polymorphism and achalasia in a Turkish population
Article first published online: 26 SEP 2011
© 2011 Blackwell Publishing Ltd
Neurogastroenterology & Motility
Volume 24, Issue 1, pages 27–30, January 2012
How to Cite
Alahdab, Y. O., Eren, F., Giral, A., Gunduz, F., Kedrah, A. E., Atug, O., Yilmaz, Y., Kalayci, O. and Kalayci, C. (2012), Preliminary evidence of an association between the functional c-kit rs6554199 polymorphism and achalasia in a Turkish population. Neurogastroenterology & Motility, 24: 27–30. doi: 10.1111/j.1365-2982.2011.01793.x
- Issue published online: 21 DEC 2011
- Article first published online: 26 SEP 2011
- Received: 20 July 2011 Accepted for publication: 28 August 2011
- association study;
Background C-kit-positive interstitial cells of Cajal (ICC) of the lower esophageal sphincter are reduced in achalasia. Two functional gene polymorphisms (rs2237025 and rs6554199) within the c-kit gene may affect its transcriptional activity. In this pilot study, we hypothesized that these polymorphisms would be associated with achalasia.
Methods Genomic DNA was extracted and real-time PCR reactions were used to determine the rs2237025 and rs6554199 c-kit polymorphisms in 88 Turkish patients with achalasia and 101 healthy controls.
Key Results The frequency of the T allele of rs6554199 was significantly higher in patients with achalasia [odds ratio (OR): 1.55; 95% confidence interval (CI), 1.03–2.34; P = 0.038] compared with the G allele. Under a dominant model of inheritance, the carriage of at least one T allele was significantly more frequent in patients with achalasia (80.7%) than in controls (65.3%; OR: 2.21; 95% CI, 1.13–4.33; P = 0.022). No association of the c-kit rs2237025 polymorphism with achalasia was detected.
Conclusions & Inferences Despite the small sample size and the possibility of a false positive finding, our preliminary data support the hypothesis that the T allele of the c-kit rs6554199 polymorphism may be associated with achalasia in the Turkish population. These findings need to be replicated in other racial-ethnically diverse populations.