Three single nucleotide polymorphisms (SNPs) associated with infantile hypertrophic pyloric stenosis have been identified by a genome-wide association study that included 1,001 surgically confirmed cases and 2,401 controls. Two of the SNPs are located in the vicinity of MBNL1, which encodes a factor important for splicing transitions that take place soon after birth. The other SNP is located downstream of NKX2-5, which has a role in the development of the embryonic gut and cardiac muscle tissue.
ORIGINAL RESEARCH PAPER
Feenstra, B. et al. Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. Nat. Genet. doi:10.1038/ng.1067
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Identification of three single nucleotide polymorphisms associated with infantile hypertrophic pyloric stenosis. Nat Rev Gastroenterol Hepatol 9, 186 (2012). https://doi.org/10.1038/nrgastro.2012.27
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DOI: https://doi.org/10.1038/nrgastro.2012.27
