Prevalence of eight molecular markers associated with thrombotic diseases in six Amerindian tribes and two African groups of Costa Rica

Abstract

Individuals belonging to six different Amerindian tribes and two African groups of Costa Rica were genotyped for factor V Leiden (FV), factor V haplotype HR2 (FV HR2), Factor II 20210G>A (FII), the methylenetetrahydrofolate reductase (MTHFR), factor VII polymorphisms (FVII IVS7, FVII R353Q), factor XIII (FXIII V34L), and the insertion/deletion (I/D) polymorphism of the gene of angiotensin converting enzyme (ACE). Clear differences in the prevalence were found and are first reported. The prevalence of some of the established genetic risk factors was low in Amerindians of Costa Rica (ACE) or even absent (FVL, FII), and others (MTHFR, FVHR2) had an extremely high prevalence. People of African origin carried very rare FVL or FII polymorphisms, but the DD genotype of ACE is the highest reported. Concerning the protective factors, the QQ genotype of FVII R353Q was absent in Amerindians, but the protective 7/7 genotype of FVII IVS7 frequently found. Novel alleles of FVII IVS7 (4, 8, and 9 monomers) were found. Intertribal heterogeneity was observed that may reflect the evolutionary history of these tribal groups and their admixture with other populations.

The FXIIIVal34Leu, common and risk factors of venous thrombosis in early middle‐age Costa Rican patients

“…18,22,23 The FXIII Val34Leu polymorphism was confirmed as a protective factor against the occurrence of VT in this study. The homozygous Leu genotype was significantly more prevalent among controls than cases.…”

Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

“…Likewise, in a study conducted in Chile (N = 1200), only 1% of the population had any variant alleles (Palomo et al, 2009). These variants are also rare in African, Chinese, and American Indian populations (Herrmann et al, 2004;Jun et al, 2006). On the other hand, they are common in Arab countries, with frequencies as high as approximately 11% for FV G1691A and 5% for FII G20212A (P < 0.001), as observed by Hussein (2012) in a Palestinian population.…”

“…In Mexico, for instance, the highest recorded frequency of 677T is 57%. Through analysis of indigenous tribes of Costa Rica, Herrmann et al (2004) found that the 677T allele was present in 69% of the population, the current highest observed prevalence of this polymorphism in the world. The high frequency of this polymorphism in the Asian countries Japan (40%) and Korea (44%) (Matsuo et al, 2004;Woo et al, 2009) were significantly different from the frequency found in this study (P = 0.003 and P = 0.011, respectively).…”

Incidence of five prothrombotic gene polymorphisms in healthy Saudi Arabians

“…FV HR2 was tested using a method modified in our laboratory (unpublished data). An extensive literature review for worldwide distribution of these factors was made [2–11].…”