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Familial aggregation and heritability of pyloric stenosis

Camilla Krogh1, Thea K Fischer, Line Skotte

  • 1Department of Epidemiology Research, Statens Serum Institut, 5 Artillerivej, DK-2300 Copenhagen S, Denmark. ckr@ssi.dk

JAMA
|June 17, 2010
PubMed

Insights

Pyloric stenosis, a common infant surgery, shows strong familial aggregation. This study found an 87% heritability, indicating a significant genetic component in its development.

Area of Science:

  • Pediatric Surgery
  • Genetics
  • Epidemiology

Background:

  • Pyloric stenosis is the most frequent surgical condition in infants.
  • Previous reports suggest familial aggregation, but the roles of shared environment versus inheritance remain unclear.

Purpose of the Study:

  • To investigate familial aggregation of pyloric stenosis across multiple generations.
  • To assess the influence of sex and parental contributions on disease risk.
  • To estimate the heritability of pyloric stenosis.

Main Methods:

  • A population-based cohort study included 1,999,738 Danish children born between 1977 and 2008.
  • Follow-up focused on the first year of life, identifying 3362 cases requiring surgery for pyloric stenosis.
  • Familial aggregation was evaluated using rate ratios.

Main Results:

  • The incidence rate of pyloric stenosis was 1.8 per 1000 person-years for singletons and 3.1 for twins.
  • Rate ratios were significantly elevated for monozygotic twins (182), dizygotic twins (29.4), siblings (18.5), and cousins (3.06).
  • Heritability was estimated at 87%, with no significant differences based on sex or parental lineage.

Conclusions:

  • Pyloric stenosis exhibits strong familial aggregation in the Danish population.
  • The high heritability suggests a substantial genetic influence on the condition's development.
Abstract

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