Low circulating cholesterol in neonates linked with pyloric stenosis

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1. There is a genome-wide significant locus for infantile hypertrophic pyloric stenosis IHPS on chromosome 11q in the apolipoprotein gene cluster. 

2. Lower levels of circulating lipids in a neonate are associated with developing IHPS. 

Evidence Rating Level: 3 (Fair)   

Study Rundown: IHPS shows strong concordance in families, and this study elucidates a novel genetic loci association. Chromosome 11q23.3, which is in the apolipoprotein region, demonstrates a genome-wide association in IHPS cases. In a plasma analysis, a lower level of circulating lipids was found to be associated with an increased risk for developing IHPS. While this study has a strong methodology, it is limited in that it only shows an association; causality cannot be assumed. Notably, the protective effect of higher lipid levels has potential implications in newborn nutrition recommendations. Because breast milk is the primary recommendation for nutrition, lipid components of breast milk may need to be investigated in order to determine which lipids are most essential, especially in families with IHPS. Furthermore, more research is needed to assess whether this is a lipid signaling or structural problem and how pediatric health supervision should be personalized during these critical developmental months. While much work remains, the positive genome-wide association study represents an important step that may result in clinically relevant findings for IHPS in the future.

Click to read this study published in JAMA

Relevant Reading: The Genetics of Infantile Hypertrophic Pyloric Stenosis

In-Depth [case-control study]: This study of Danish, Swedish and American children who had pyloromyotomy or malformations based on registry data included 529,128 SNPs for genome-wide association studies (GWAS). One novel locus (11q23.3) was found to have genome-wide significance with one variant having a P value as low as P = 1.9 x 10-10. The 11q23.3 locus is implicated in lipid metabolism, so these results suggested a relationship with plasma lipid levels. There was a stage of plasma lipid level analysis as a follow up, prospectively on Danish cases. It indicated that a low level of circulating lipids in neonates was associated with IHPS (P=0.02).

By Mike Hoaglin and Rif Rahman

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