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Apolipoprotein LPA, APOE, APOC1, and APOC2 genotype frequencies have been determined for the first time in a North African population. A sample of 140 Berber individuals from the Moroccan Moyen Atlas region has been analyzed. Allelic and haplotypic data have been used to compare our sample with other world populations and the results clearly differentiate Berbers from Europeans and Sub-Saharans, suggesting several distinctive features of Moroccan Berbers as the extreme high values of LPA PNR*11 pentanucleotide allele (10.5%) and the relatively high and low values of APOE*E4 (15.7%) and *E2 (4.5%) in comparison to other Mediterraneans. Another remarkable result is the frequency distribution of the two APOC2 alleles (70% vs 30%) in comparison with the European pattern (50% of each allele). The high values of APOE*E4 and LPA PNR*7 together with the intermediate linkage disequilibrium values between APOE and APOC1 alleles in comparison with Europeans and Africans suggest a certain degree of Sub-Saharan influence in the current Moroccan population.

The effect of the C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene, traditionally associated with ischaemic heart disease (IHD), was assessed in a Spanish population. The transmission disequilibrium test (TDT) was used to determine a possible association in a sample of 101 trios of IHD patients. The distribution of MTHFR genotypes was similar in the IHD subjects and the parental group; the TT genotype was present in 14.9% of IHD patients, as compared to 15.2% in the parents. The frequency of the T allele was also similar in IHD cases and parents (39.6% vs. 42.4%; p = 0.649). The TDT confirmed that the observed transmission of the T allele did not deviate significantly from the expected one (chi2 = 0.743; p > 0.4). Our TDT analysis clearly demonstrates a lack of association between the T allele of the C677T mutation in MTHFR and cardiovascular artery disease, both for the general group and for different risk subgroups (smokers, hypertension, male sex, overweight and type A behaviour pattern) in the Spanish population.

Apolipoprotein E (apoE) gene polymorphism was analyzed by polymerase chain reaction in one Moroccan and six Spanish populations, a total of 660 individuals. No significant differences were observed between samples, and the mean relative frequencies (with 95% confidence intervals) found were 0.104 (0.069-0.139) for the epsilon4 allele, 0.855 (0.813-0.897) for epsilon3 and 0.041 (0.015-0.067) for epsilon2. Frequencies of the epsilon4 allele were low in comparison to Northern European populations, but similar to those reported for other South-European populations. The presence of a rare mutation, E2 Christchurch, in one Basque individual was confirmed by sequence analysis.