title: Preliminary evidence of an association between the functional c-kit rs6554199 polymorphism and achalasia in a Turkish population.
abstract: 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.
  
  
  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
  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.
authors.affiliation: Department of Gastroenterology, Marmara University School of Medicine, Istanbul, Turkey.
authors.forename: Y O
authors.initials: YO
authors.lastname: Alahdab
authors.forename: F
authors.initials: F
authors.lastname: Eren
authors.forename: A
authors.initials: A
authors.lastname: Giral
authors.forename: F
authors.initials: F
authors.lastname: Gunduz
authors.forename: A E
authors.initials: AE
authors.lastname: Kedrah
authors.forename: O
authors.initials: O
authors.lastname: Atug
authors.forename: Y
authors.initials: Y
authors.lastname: Yilmaz
authors.forename: O
authors.initials: O
authors.lastname: Kalayci
authors.forename: C
authors.initials: C
authors.lastname: Kalayci
mesh_terms: D004931:Esophageal Achalasia / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D056885:Interstitial Cells of Cajal / Q000378:metabolism; D008297:Male; D010865:Pilot Projects; D020641:Polymorphism, Single Nucleotide; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics* / Q000378:metabolism; D014421:Turkey
chemical_list: D019009:Proto-Oncogene Proteins c-kit