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Circulating cholesterol inversely linked to infantile hypertrophic pyloric stenosis
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An association with genome-wide significance between infantile hypertrophic pyloric stenosis and a novel locus suggests an inverse relationship between the condition and circulating cholesterol in neonates, according to a recent study.
In the study’s initial stage, researchers genotyped samples from 1,001 Danish children diagnosed with infantile hypertrophic pyloric stenosis (IHPS) between 1987 and 2008, along with 2,371 healthy controls. In the second, validation stage, five loci were tested in samples collected from cases (n=796) and controls (n=879) in Denmark, the United States (cases, n=738; controls, n=697) and Sweden (cases, n=129; controls, n=742).
Results from the first stage indicated SNPs at four loci significantly associated with IHPS (P<1 x 10-7), with two novel loci on the 11q23.3 and 19p13.2 chromosomes and two confirmed loci on the 3q25.1 and 5q35.2 chromosomes. These loci were included in the validation stage, along with a known locus on the 3q25.2 chromosome. The locus on the 11q23.3 chromosome was found to have genome-wide significance with significant combined results for the rs12721025 (HR=1.59; 95% CI, 1.38-1.83), rs77349713 (HR=1.53; 95% CI, 1.33-1.75) and rs150758276 (HR=1.86; 95% CI, 1.48-2.35) variants.
Investigators noted significant correlations between the rs12721025 SNP, which had the strongest observed association with IHPS, and 50 SNPs at the locus that had been previously associated with total and/or HDL cholesterol levels. The cholesterol-lowering allele was significantly associated with increased IHPS risk for all 50 SNPs. Researchers measured the cholesterol and triglyceride levels in umbilical cord blood samples collected from 46 cases and 189 controls, and found an inverse association between total cholesterol and IHPS risk (OR=0.77; 95% CI, 0.64-0.92 per 10 mg/dL).
“We identified a novel genetic locus that associates with IHPS at genome-wide significance,” the researchers concluded. “Characteristics of this locus suggest the possibility of an inverse relationship between levels of circulating cholesterol in neonates and IHPS risk. Further investigation is required to illuminate the functional significance of the association identified here.”
Disclosure: See the study for a full list of relevant financial disclosures.
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