Allele and haplotype frequencies of P-selectin gene in Croatian population and review of literature

Objective P-selectin is an adhesion molecule with a pivotal role in the initial phases of adhesion of leukocytes on activated platelets and endothelial cells during physiological or pathological inflammation and hemostasis. To date, multiple polymorphisms in P-selectin gene (SELP) have been described, but the distribution of polymorphism frequencies vary greatly between different ethnic groups. The aim of this study was to estimate genotype, allele and haplotype frequencies of four common SELP variants (S290N, N562D, V599L, T715P) in the Croatian healthy population and to compare them with the frequencies reported for other ethnic groups. Methods SELP S290N, N562D, V599L and T715P genotypes were determined in 250 unrelated Croatian healthy subjects using the polymerase chain reaction with sequence-specific primers. SELP S290N/N562D/V599L/T715P haplotypes were calculated using the web tool for single nucleotide polymorphism (SNP) analysis, SNPStats. For the purpose of this review, allele and haplotype frequencies of healthy controls were selected from to date published ethnic case-control studies. Results For all investigated single SELP polymorphisms no difference of genotype frequencies was found between children and adults and neither according to gender, except for the S290N polymorphism. The wild-type SS290 genotype was significantly more common in males than in females (P = 0.024). Obtained SELP major allele frequencies were: S290 (0.786), N562 (0.506), V599 (0.890) and T715 (0.924). A total of ten SELP S290N/N562D/V599L/T715P haplotypes were identified and among them four most frequent haplotypes were: SDVT (0.374), SNVT (0.252), NDVT (0.097) and NNVT (0.095). Obtained data are similar to the frequencies reported in most European populations. Conclusions Data obtained in this study are essential and can be used in future investigatations of the genetic background of cardiovascular and thrombotic diseases in the Croatian population.