Preliminary evidence of an association between the functional c-kit rs6554199 polymorphism and achalasia in a Turkish population.

摘要: Background  C-kit-positive interstitial cells of Cajal (ICC) the lower esophageal sphincter are reduced in achalasia. Two functional gene polymorphisms (rs2237025 and rs6554199) within c-kit may affect its transcriptional activity. In this pilot study, we hypothesized that these would be associated with achalasia. Methods  Genomic DNA was extracted real-time PCR reactions were used to determine rs2237025 rs6554199 88 Turkish patients achalasia 101 healthy controls. Key Results  The frequency T allele significantly higher [odds ratio (OR): 1.55; 95% confidence interval (CI), 1.03–2.34; P = 0.038] compared G allele. Under a dominant model inheritance, carriage at least one more frequent (80.7%) than controls (65.3%; OR: 2.21; CI, 1.13–4.33; P = 0.022). No association polymorphism detected. Conclusions & Inferences  Despite small sample size possibility false positive finding, our preliminary data support hypothesis population. These findings need replicated other racial-ethnically diverse populations.