title: Different evolutionary histories of the coagulation factor VII gene in human populations?
abstract: Immoderate blood clotting constitutes a risk factor for cardiovascular disease in modern industrialised societies, but is believed to have conferred a survival advantage, i.e. faster recovery from bleeding, on our ancestors. Here, we investigate the evolutionary history of the Coagulation Factor VII gene (F7) by analysing five cardiovascular-risk-associated mutations from the F7 promoter and nine neutral polymorphisms (six SNPs and three microsatellites) from the flanking region in 16 populations from the broader Mediterranean region, South Saharan Africa and Bolivia (687 individuals in total). Population differentiation and selection tests were performed and linkage disequilibrium patterns were investigated. In all samples, no linkage disequilibrium between adjacent F7 promoter mutations -402 and -401 was observed. No selection signals were detected in any of the samples from the broader Mediterranean region and South Saharan Africa, while some of the data suggested a potential signal of positive selection for the F7 promoter in the Native American samples from Bolivia. In conclusion, our data suggest, although do not prove, different evolutionary histories in the F7 promoter region between Mediterraneans and Amerindians.
authors.affiliation: Universitat de Barcelona, Spain.
authors.forename: Georgios
authors.initials: G
authors.lastname: Athanasiadis
authors.forename: Esther
authors.initials: E
authors.lastname: Esteban
authors.forename: Magdalena
authors.initials: M
authors.lastname: Gayà-Vidal
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Dugoujon
authors.forename: Nicholas
authors.initials: N
authors.lastname: Moschonas
authors.forename: Hassen
authors.initials: H
authors.lastname: Chaabani
authors.forename: Nisrine
authors.initials: N
authors.lastname: Bissar-Tadmouri
authors.forename: Nourdin
authors.initials: N
authors.lastname: Harich
authors.forename: Mark
authors.initials: M
authors.lastname: Stoneking
authors.forename: Pedro
authors.initials: P
authors.lastname: Moral
mesh_terms: D000352:Africa, Northern; D001838:Bolivia; D002318:Cardiovascular Diseases / Q000235:genetics; D019143:Evolution, Molecular; D005167:Factor VII / Q000235:genetics*; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D015810:Linkage Disequilibrium; D019083:Mediterranean Region; D018895:Microsatellite Repeats; D009154:Mutation; D011110:Polymorphism, Genetic; D012306:Risk; D012641:Selection, Genetic; D013019:South Africa
chemical_list: D005167:Factor VII