Impact of genetic polymorphisms on the pathogenesis of idiopathic achalasia: Association with IL33 gene variant.
OBJECTIVE
To investigate the association of single nucleotide polymorphisms (SNPs) of genes involved in the regulation of immune responses, IL33, IL1RL1, IL23R, and IL10, with idiopathic achalasia in an Italian cohort of patients.


METHODS
A panel of eleven polymorphisms were genotyped in 116 unrelated idiopathic achalasic patients and 371 healthy subjects, by using TaqMan genotyping assays.


RESULTS
Significant differences of allele (P=0.0065, OR=1.59, CI=1.14-2.22) and genotype (P=0.0097, OR=1.74, CI=1.14-2.65) frequencies of the IL33 rs3939286 variant were found between achalasic patients and controls. No association of the other investigated SNPs was detected. No differences in genotype and allele distribution were found with respect to clinical characteristics of patients.


CONCLUSIONS
We provide for the first time an association between the risk of developing idiopathic achalasia and IL-33 variant, underling the role of cytokines and inflammatory mediators on the pathogenesis of the disease.
IRCCS 'Casa Sollievo della Sofferenza', Division of Gastroenterology, San Giovanni Rotondo, Italy. Electronic address: a.latiano@operapadrepio.it.
Anna
A
Latiano
IRCCS 'Casa Sollievo della Sofferenza', Division of Gastroenterology, San Giovanni Rotondo, Italy.
Orazio
O
Palmieri
IRCCS 'Casa Sollievo della Sofferenza', Division of Gastroenterology, San Giovanni Rotondo, Italy.
Fabrizio
F
Bossa
IRCCS 'Casa Sollievo della Sofferenza', Division of Gastroenterology, San Giovanni Rotondo, Italy.
Tiziana
T
Latiano
IRCCS 'Casa Sollievo della Sofferenza', Division of Gastroenterology, San Giovanni Rotondo, Italy.
Giuseppe
G
Corritore
IRCCS 'Casa Sollievo della Sofferenza', Division of Gastroenterology, San Giovanni Rotondo, Italy.
Ermelinda
E
De Santo
IRCCS 'Casa Sollievo della Sofferenza', Division of Gastroenterology, San Giovanni Rotondo, Italy.
Giuseppina
G
Martino
IRCCS 'Casa Sollievo della Sofferenza', Division of Gastroenterology, San Giovanni Rotondo, Italy.
Antonio
A
Merla
IRCCS 'Casa Sollievo della Sofferenza', Division of Gastroenterology, San Giovanni Rotondo, Italy.
Maria Rosa
MR
Valvano
IRCCS 'Casa Sollievo della Sofferenza', Unit of General Surgery 2nd and Thoracic Surgery, San Giovanni Rotondo, Italy.
Antonello
A
Cuttitta
IRCCS 'Casa Sollievo della Sofferenza', Bioinformatics Unit, San Giovanni Rotondo, Italy.
Tommaso
T
Mazza
Gastroenterology Unit 2, AOU Careggi Hospital, Florence, Italy.
Vito
V
Annese
IRCCS 'Casa Sollievo della Sofferenza', Division of Gastroenterology, San Giovanni Rotondo, Italy.
Angelo
A
Andriulli
D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D004931:Esophageal Achalasia / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D000072179:Interleukin-1 Receptor-Like 1 Protein; D016753:Interleukin-10 / Q000235:genetics; D000067596:Interleukin-33; D007378:Interleukins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011956:Receptors, Cell Surface / Q000235:genetics; D018123:Receptors, Interleukin / Q000235:genetics; D044465:White People / Q000235:genetics
C079241:IL1RL1 protein, human; C515500:IL23R protein, human; C506536:IL33 protein, human; D000072179:Interleukin-1 Receptor-Like 1 Protein; D000067596:Interleukin-33; D007378:Interleukins; D011956:Receptors, Cell Surface; D018123:Receptors, Interleukin; D016753:Interleukin-10