Prevalence of Factor V Leiden Mutation in Non-European Populations

• DOI: 10.1055/s-0038-1655963
• Publication Date: 2018-07-10T22:40:40Z
• Authors: Guglielmina Pepe; Olga Rickards; Olga Camacho Vanegas; Tamara Brunelli; Anna Maria Gori; Betti Giusti; Monica Attanasio; Domenico Prisco; Gian Franco Gensini; Rosanna Abbate
• Keywords: Asia; Settore BIO/18 - GENETICA; Indians, South American; venous thromboembolism; Settore BIO/08 - ANTROPOLOGIA; DNA polymorphisms; venous thromboembolism; Black People; Factor V; Thrombosis; White People; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; Asian People; Gene Frequency; Italy; DNA polymorphism; Spain; Ethnicity; Prevalence; Humans; Disease Susceptibility; Ethiopia; Africa South of the Sahara

SummaryA difference in the prevalence of venous thromboembolism (TE) in major human groups has been described and an uneven distribution of FV Leiden mutation over the world has recently been reported.We investigated FV Leiden mutation in 584 apparently healthy sub#jects mostly from populations different from those previously investi#gated: 170 Europeans (Spanish, Italians), 101 sub-saharan Africans (Fon, Bariba, Berba, Dendi), 115 Asians (Indonesians, Chinese, Tharus), 57 Amerindians (Cayapa), 84 Afroamericans (Rio Cayapa, Viche), and 57 Ethiopians (Amhara, Oromo).The mutation was detected in only 1/115 Asian (Tharu) and in 5/170 Europeans (4 Italians, 1 Spanish).These data confirm that in non-Europeans the prevalence of FV mutation is at least 7 times lower than in Europeans and provide indirect evidence of a low prevalence not only of the FV Leiden gene but also of other genes leading to more severe thrombophilia. Finally, findings from the literature together with those pertaining to this study clearly show a marked heterogeneity among Europeans.