Premium
Preliminary evidence of an association between the functional c‐kit rs6554199 polymorphism and achalasia in a Turkish population
Author(s) -
Alahdab Y. O.,
Eren F.,
Giral A.,
Gunduz F.,
Kedrah A. E.,
Atug O.,
Yilmaz Y.,
Kalayci O.,
Kalayci C.
Publication year - 2012
Publication title -
neurogastroenterology and motility
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.489
H-Index - 105
eISSN - 1365-2982
pISSN - 1350-1925
DOI - 10.1111/j.1365-2982.2011.01793.x
Subject(s) - achalasia , gastroenterology , allele , odds ratio , medicine , turkish population , polymorphism (computer science) , allele frequency , confidence interval , esophagus , biology , genetics , genotype , gene
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.