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European Human Genetics Conference 2007 June 16 – 19, 2007 ...

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Normal variation, population genetics, genetic epidemiology<br />

SG (African/<strong>European</strong>=79%/21%, R2=0.983) and BR (68%/32%,<br />

R2=0.989). These results are not in agreement to demographic history<br />

and previous studies showing tri-hybrid admixture, which may be explained<br />

by the different nature of markers analyzed. On the other hand,<br />

those associations were not observed in VAL, probably due to its isolation<br />

and no recent admixture. The coefficient of local inbreeding (Fis=-<br />

0,136, p C promoter polymorphism<br />

have lower promoter activity and result in decreased COX-2 expression.<br />

Also, it is reported that this type of polymorphism may have<br />

important role in increased risk of several types of cancers. In addition,<br />

genetic polymorphisms of COX-2 gene could alter enzyme expression<br />

and the response to Nonsteroidal anti-inflammatory drugs (NSAIDs).<br />

In this investigation, we assessed allele frequency of COX-2 polymorphism<br />

among different Iranian populations. The genetic polymorphisms<br />

of COX-2 -765G > C promoter has not been reported among<br />

the Iranian population so far. We initiated a study to examine COX-2<br />

-765G > C promoter genotype in different Iranian ethnic groups. The<br />

samples were collected from healthy population from three different<br />

ethnicity groups (Fars, Turk and Rashti). We assessed the genotype<br />

patterns of COX-2 among Iranian Fars, Turk and Rashti ethnic groups<br />

in five regions. The COX-2 -765G > C promoter genotypes were determined<br />

by polymerase chain reaction-restriction fragment length<br />

polymorphisms (PCR-RFLP) analysis in 90 Iranian healthy individuals.<br />

Allele frequency of COX-2 -765G > C promoter for above populations<br />

were similar and the G allele was significantly higher than C allele.<br />

P1143. Genetic polymorphisms associated with cardiovascular<br />

disease in the Azorean population<br />

P. A. S. Sousa1 , A. R. Couto1 , S. Nemeth2 , J. P. O. Pinheiro1 , C. Oberkanins2 , J.<br />

Bruges-Armas1 ;<br />

1 2 SEEBMO, Angra do Heroísmo, Portugal, ViennaLab Diagnostics GmbH, Vienna,<br />

Austria.<br />

Background: Research on cardiovascular disease (CVD) has revealed<br />

several candidate genes associated with the worlds first cause of dis-<br />

2

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