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Eur J Pediatr Surg 2011; 21(06): 389-394
DOI: 10.1055/s-0031-1291357
Original Article
© Georg Thieme Verlag KG Stuttgart · New York

The Role of Ret Genomic Variants in Infantile Hypertrophic Pyloric Stenosis

A. Serra
1   University of Ulm, Paediatric Surgery, Ulm, Germany
,
K. Schuchardt
2   University of Dresden, Paediatric Surgery, Dresden, Germany
,
J. Genuneit
3   University of Ulm, Institute of Epidemiology and Medical Biometry, Ulm, Germany
,
C. Leriche
1   University of Ulm, Paediatric Surgery, Ulm, Germany
,
H. S. Görgens
4   University of Dresden, Surgical Research, Dresden, Germany
,
H.-K Schackert
4   University of Dresden, Surgical Research, Dresden, Germany
,
G. Fitze
2   University of Dresden, Paediatric Surgery, Dresden, Germany
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Publikationsverlauf

received 13. Mai 2011

accepted after revision 21. September 2011

Publikationsdatum:
14. Dezember 2011 (online)

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Abstract

Infantile hypertrophic pyloric stenosis (IHPS) is a common childhood pathology affecting approximately 1–5 children pro 1 000 newborns, with a genetic background as suggested by the familial occurrence. RET is a candidate gene for IHPS due to its role in the development of the intrinsic innervation and ganglia of the smooth musculature and the association of RET variants with another motility disorder (Hirschsprung’s disease). Accordingly, we investigated RET-IHPS associations through sequencing of the complete RET coding region in 32 IHPS patients. Genotype frequencies were compared between patients and 48 controls using the Cochran-Armitage trend test or Fischer’s test for exact p-values. We found 19 RET variants in IHPS, including polymorphisms in the promoter region (c.-200 G>A and c.-196C>A). There was no statistically significant difference between the frequencies of the variants in both groups. There was no deviation from the Hardy-Weinberg equilibrium, yet a significant correlation (linkage disequilibrium) for variants in the promoter region, in exons 11, 13, 14 and 19 and in the 3’ UTR. We conclude that RET variants are present in IHPS patients yet show no significant statistical association with the IHPS phenotype, suggesting at best an adjuvant role for RET in IHPS.

Key words

infantile hypertrophic pyloric stenosis - RET proto-oncogene - mutations - polymorphisms
 

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