We performed a genetic analysis of 280 families with congenital indire
ct inguinal hernia ascertained in Shandong province. The multifactoria
l threshold model and segregation analysis were applied to these famil
ies to investigate the mode of inheritance of congenital indirect ingu
inal hernia. Our results indicate that congenital indirect inguinal he
rnia is not compatible with a multifactorial threshold model, and the
frequent vertical transmission and high segregation ratio suggest auto
somal dominant inheritance with incomplete penetrance and sex influenc
e. Through further pedigree analysis of the multiple case families wit
h at least two closely related affected members, we noted preferential
paternal transmission of the disease gene, which might suggest the ro
le of genomic imprinting in the aetiology of this condition.