Lack of association between the functional c-kit rs6554199 polymorphism and achalasia in a Spanish population.
A functional polymorphism (rs6554199) located in the c-kit gene was associated with achalasia in a Turkish cohort. Our aim was to replicate this result in a large cohort of Spanish patients and controls. A case-control study was performed with 282 Spanish white unrelated patients and 687 healthy controls. All were genotyped for SNP rs6554199 using a TaqMan Assay. No association was found in our study (T allele frequency in patients and controls: 47.3% vs. 49.4%; OR=0.92, p=0.41). The finding that the T allele of the c-kit rs6554199 polymorphism could be associated with achalasia as reported in a Turkish population could not be replicated in a Spanish cohort. Although ethnic differences might explain these data, the sample size that compromised the statistical power in the Turkish cohort and is higher in our study, led us to suggest that the reported association seems to be a false positive.
Immunology Department, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain. jlsantial@gmail.com
Jose Luis
JL
Santiago
Emilio G
EG
de la Concha
Julio Pérez
JP
de la Serna
Concepción
C
Sevilla
Elena
E
Urcelay
Antonio Ruiz
AR
de León
D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D004931:Esophageal Achalasia / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D013030:Spain; D044465:White People / Q000235:genetics*
D019009:Proto-Oncogene Proteins c-kit