Adhesion molecules like the members of the selectin family participate
in the interaction between leukocytes ;and the endothelium. They are
also involved in the pathogenesis of atherosclerotic processes. To con
tribute to the analysis of the genetic background of atherosclerosis w
e searched for DNA polymorphisms in the genes encoding adhesion molecu
les especially E-selectin which seems to be expressed only in activate
d endothelium. An adenine to cytosine substitution for cDNA position 5
61 resulting in an amino acid exchange from serine to arginine (positi
on 128) was detected in the epidermal growth factor like domain. A sig
nificantly higher mutation frequency (P = 0.02) was observed in 97 pat
ients aged 50 years or less with angiographically proven severe athero
sclerosis (allele frequency of arginine 0.155) compared with an unsele
cted population (allele frequency of arginine 0.088) as well as in 40
patients aged 40 years or less (allele frequency of arginine 0.21, P =
0.0025). These data suggest that the 128-serine/arginine polymorphism
is associated with a higher risk for early severe atherosclerosis.