A Pst1 polymorphism detects the mutation of serine(128) to arginine in CD 62E gene - a risk faster for coronary artery disease

The mutation of serine(128) to arginine in the CD 62E gene is a risk factor for coronary artery disease (CAD). We designed a new method to detect this mutation based on the observation that it is due to a transversion of nucl eotide A(561) to CI which abolishes a PstI recognition site. Two alleles, A and C, are easily typed when genomic DNA is amplified by PCR, digested wit h PstI, and separated on agarose gels. Among 153 people who underwent an el ective, diagnostic arteriography in Johns Hopkins Hospital, we found that t he C allele accounts for 19.5% in angiographically documented CAD patients (n = 82). It is significantly higher than the 10.6% frequency observed in n ormal controls (n = 71, p < 0.05). It indicates that the C allele is associ ated with early-onset CAD. This new method should facilitate the screening of this mutant allele in large populations and contribute to the understand ing of the molecular mechanism underlying the association of this mutation with CAD.