title: Beta-fibrinogen allele frequencies in Peruvian Quechua, a high-altitude native population.
abstract: Elevated hematocrits, which are found in many high-altitude populations, increase the oxygen-carrying capacity of blood and may represent an adaptation to hypoxic environments. However, as high hematocrit increases blood viscosity, which in turn is associated with hypertension and heart disease, it may be advantageous for high-altitude populations to limit other factors that contribute to increased blood viscosity. One such factor is the plasma concentration of the coagulation protein fibrinogen. Several common polymorphisms in the beta-fibrinogen gene have been identified that affect fibrinogen concentrations. We determined the allele frequencies of three of these polymorphisms (G/A-455(HaeIII), C/T-148(HindIII), and G/A+448(MnlI)) in sample groups drawn from three populations: Quechua-speaking natives living at over 3,200 m in the Peruvian Andes, North American natives (Na-Dene) from coastal British Columbia, and Caucasian North Americans. The frequencies of the alleles previously shown to be associated with increased fibrinogen levels were so low in the Quechuas that their presence could be accounted for solely by genetic admixture with Caucasians. Frequencies in the Na-Dene, a Native American group unrelated to the Quechua, were not significantly different from those in Caucasians.
authors.affiliation: Department of Zoology, University of British Columbia, Vancouver, Canada. rupert@zoology.ubc.ca
authors.forename: J L
authors.initials: JL
authors.lastname: Rupert
authors.forename: D V
authors.initials: DV
authors.lastname: Devine
authors.forename: M V
authors.initials: MV
authors.lastname: Monsalve
authors.forename: P W
authors.initials: PW
authors.lastname: Hochachka
mesh_terms: D000483:Alleles; D000531:Altitude; D001955:British Columbia; D004247:DNA / Q000097:blood / Q000235:genetics; D017931:DNA Primers; D004262:DNA Restriction Enzymes; D005006:Ethnicity / Q000235:genetics*; D005340:Fibrinogen / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006400:Hematocrit; D006801:Humans; D007198:Indians, North American / Q000235:genetics; D007199:Indians, South American / Q000235:genetics*; D009656:North America; D010568:Peru; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D044465:White People / Q000235:genetics
chemical_list: D017931:DNA Primers; D005340:Fibrinogen; D004247:DNA; D004262:DNA Restriction Enzymes