Strong inheritance of pyloric stenosis
30 August 2010
Researchers at Statens Serum Institut have demonstrated a strong inheritance of pyloric stenosis. Researchers documented a nearly 200-fold increased risk of developing the condition if the child had a monozygotic twin with pyloric stenosis.
Among siblings, half-siblings and cousins there was a 20-, 5- and 3-fold increased risk, respectively. “Even if only a cousin has pyloric stenosis, the risk of developing the condition is markedly increased”, says professor Mads Melbye, who conducted the study in collaboration with PhD student Camilla Krogh at Department of Epidemiology Research .
Pyloric stenosis is a potentially fatal condition in which apparently healthy infants, typically from 2 to 8 weeks old, develop an inability to pass food from the stomach into the duodenum because of hypertrophy of the pylorus circular muscle.
Gene-environment interaction
“The familial aggregation of pyloric stenosis is convincingly strong and suggests that specific genes determine who develops the condition“, Mads Melbye explains. “The infant is apparently not born with pyloric stenosis, but develops the disease after some weeks. There appears to be an external factor that triggers the disease in a genetically predisposed infant. We now seek to identify the genetic profile and if we succeed the disease could potentially be prevented”, he says
If we succeed in identifying the genetic profile, pyloric stenosis could potentially be prevented
Mads Melbye, professor
The study is based on register data
The study included all children born in Denmark from 1977 to the end of 2008 - a total of 1.999.738 children. The study was only feasible because data regarding the Danish population is so well-recorded, that both information on pyloric stenosis and family relations is available for each child.
A common cause for surgery in infants
Pyloric stenosis is the most common condition requiring surgery in the first months of life. In the western world, 2 to 3 infants per 1.000 newborns develop pyloric stenosis. The condition is four to five times more common in male than female infants.