Plasma Lipids and Risk for Idiopathic Hypertrophic Pyloric Stenosis

A new locus for IHPS is linked with a cholesterol-lowering gene.

Idiopathic hypertrophic pyloric stenosis (IHPS) is a genetic disorder with a high degree of penetration among siblings, particularly boys (NEJM JW Pediatr Adolesc Med Jun 30 2010). To search for genetic associations with IHPS, investigators genotyped umbilical cord blood samples from 1001 Danish children with IHPS (83% boys) and 2371 controls.

The researchers identified two novel gene loci for IHPS on chromosomes 11q23.3 and 19p13.2 and confirmed two previously known gene associations (3q25.1 and 5q35.2). The single-nucleotide polymorphism with the most significant association was located at 11q23.3 near the cholesterol-lowering apolipoprotein A-1 gene. These findings were confirmed in studies of newborn blood spots from the U.S. and Sweden.…

Reviewing Author

F. Bruder Stapleton, MD

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Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)

F. Bruder Stapleton, MD

Disclosures

Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)

Plasma Lipids and Risk for Idiopathic Hypertrophic Pyloric Stenosis

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Reviewing Author