Endothelial nitric oxide synthase (eNOS or NOS3) is the main responsible for nitric
oxide (NO) production in vascular system and different polymorphisms have been identified
in epidemiological studies. Trying to test the eNOS genetic variation in general
populations we studied the 27-bp VNTR in intron 4 and G894T substitution in exon 7
markers in 6 Western Mediterranean populations (3 from Iberian Peninsula, 1 from
North Africa, and 2 from Sardinia) and a sample from Ivory Coast. The VNTR frequencies
in Western Mediterranean and Ivory Coast fit well into the ranges previously described
for Europeans and Sub-Saharans respectively, and a typical African allele has
been detected in polymorphic frequencies in the Berber sample. The G894T substitution
presents the highest frequencies described for the T allele in the North Mediterranean
populations. Linkage disequilibrium is present between both markers in all populations
except in the Ivory Coast sample. The variation found for these polymorphisms indicates
that they may be a useful tool for population studies even at microgeographical
level
