RET Genomic Variants in Infantile Hypertrophic Pyloric Stenosis

The recent publication on RET genomic variants in infantile hypertrophic pyloric stenosis (IHPS) is very interesting.[1] Serra et al concluded 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.[1]” As noted in this report, the conclusion is still too early. The investigation in the few subjects without control group cannot imply the risk. In addition, other genetic factors are not completely investigated. Indeed, there are some previous publications on other factors and most are not conclusive. The good example is the study on motilin[2] and promoter NOS1 (nitric oxide synthase 1).[3] Finally, no statistical association might imply no role rather than a role.

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• References

• 1 Serra A, Schuchardt K, Genuneit J , et al. The role of RET genomic variants in infantile hypertrophic pyloric stenosis. Eur J Pediatr Surg 2011; 21 (6) 389-394
• 2 Svenningsson A, Lagerstedt K, Omrani MD, Nordenskjöld A. Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis. J Pediatr Surg 2008; 43 (3) 443-446
• 3 Lagerstedt-Robinson K, Svenningsson A, Nordenskjöld A. No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis. J Hum Genet 2009; 54 (12) 706-708