A single genetic origin for a common Caucasian risk factor for venous thrombosis.
A common genetic risk factor for venous thrombosis among Caucasoid subpopulations is a polymorphism, nt G1691A, in blood coagulation factor V that replaces Arg506 with Gln and imparts resistance of factor Va to the anticoagulant, activated protein C. Haplotype analyses using six dimorphic sites in the factor V gene for 117 Caucasian subjects of Jewish, Arab, Austrian, and French origin who were homozygous for nt A1691 compared with 167 controls (nt G1691) support a single origin for this polymorphism. The nt G1691A mutation is estimated to have arisen circa 21,000 to 34,000 years ago, ie, after the evolutionary divergence of Africans from non-Africans and of Caucasoid from Mongoloid subpopulations.
Zivelin
A
A
Department of Hematology, Sheba Medical Center, Tel-Aviv University, Israel.
Griffin
J H
JH
Xu
X
X
Pabinger
I
I
Samama
M
M
Conard
J
J
Brenner
B
B
Eldor
A
A
Seligsohn
U
U
D001120:Arginine / Q000235:genetics; D005165:Factor V / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012307:Risk Factors; D013924:Thrombophlebitis / Q000235:genetics*; D044465:White People
D005165:Factor V; D001120:Arginine