Original scientific paper
Molecular Variation at Functional Genes and the History of Human Populations – Data on Candidate Genes for Cardiovascular Risk in the Mediterranean
Pedro Moral
Neus Valveny
Antonio López-Alomar
Carla Calo
Mostafa Kandil
Nordin Harich
Emili González-Pérez
Marc Via
Esther Esteban
Jean Michel Dugoujon
Giuseppe Vona
Abstract
A screening of 22 DNA polymorphisms has been performed in western Mediterranean
populations (Iberian Peninsula, Morocco, and Central Mediterranean Islands).
The analyzed markers correspond to polymorphic sites in several candidate genes for
cardiovascular disease including apolipopoteins and their receptors (APOA1, APOB,
APOE, APOC1, APOC2, LPA, and LDLR), genes implied in the hemostasis regulation
(Factor VII, and -fibrinogen, and platelet-integrin, tissue plasminogen activator,
and plasminogen activator inhibitor-1), and the angiotensin converting enzyme gene.
The results are presented of a partial analysis carried out in following population samples:
6 from the Iberian Peninsula, 2 from Morocco, and 3 from Central Islands. The degree
of interpopulation diversity was significant and consistent with data from other
kind of genetic polymorphisms. The apportionment of the allele frequency variance supported
a geographic structure into three main regions: Central Mediterranean Islands,
the Iberia Peninsula and North Africa. The genetic distance pattern is compatible with
a south-to-north North African influence in the Iberian Peninsula and a remarkable
gene flow from sub-Saharan Africa into Morocco. Epidemiologicaly, North Africa is characterized
by high frequencies of LPA PNR alleles with high number of repeats (protective
for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as
compared with European populations.
Keywords
apolipoproteins; coagulation; fibrinolysis; DNA markers; Mediterranean populations
Hrčak ID:
28186
URI
Publication date:
15.12.2003.
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