Abstract
Lower levels of factor VIII and von Willebrand factor (vWF) have been reported in individuals with blood type O compared with individuals with other ABO blood types. However, this relationship has been demonstrated only by association studies and not by linkage studies. Also, it is not clear whether the ABO locus exerts a functional effect directly on these plasma factors or whether the ABO locus is in linkage disequilibrium with another locus that controls these factors. To distinguish between these 2 possibilities, we applied new statistical methods combining linkage and association tests in a pedigree-based sample. In contrast to most previous studies that used the ABO phenotypes, our study used the ABO genotypes, permitting us to distinguish AO from AA and BO from BB. Our results clearly showed significant linkage between the ABO locus and vWF antigen (P=0.00075). In addition, factor VIII coagulant activity and activated partial thromboplastin time showed suggestive linkage with the ABO locus (P=0.10 and P=0.13). All 3 plasma phenotypes showed significant differences between OO and non-OO genotypes. In addition, vWF antigen exhibited significant differences between O heterozygotes and non-OO homozygotes. This study is unique because it used a combined linkage and association test, which indicated that the ABO locus itself has a functional effect on these plasma phenotypes.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 2024-2028 |
| Number of pages | 5 |
| Journal | Arteriosclerosis, Thrombosis, and Vascular Biology |
| Volume | 20 |
| Issue number | 8 |
| State | Published - 2000 |
| Externally published | Yes |
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Keywords
- ABO blood group
- Factor VIII
- Functional polymorphism
- Genetics
- Von Willebrand factor
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
Cite this
Functional effects of the ABO locus polymorphism on plasma levels of von Willebrand factor, factor VIII, and activated partial thromboplastin time. / Souto, Juan Carlos; Almasy, Laura; Muñiz-Diaz, Eduardo; Soria, José Manuel; Borrell, Montserrat; Bayén, Laia; Mateo, José; Madoz, Pedro; Stone, William; Blangero, John; Fontcuberta, Jordi.
In: Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 20, No. 8, 2000, p. 2024-2028.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Functional effects of the ABO locus polymorphism on plasma levels of von Willebrand factor, factor VIII, and activated partial thromboplastin time
AU - Souto, Juan Carlos
AU - Almasy, Laura
AU - Muñiz-Diaz, Eduardo
AU - Soria, José Manuel
AU - Borrell, Montserrat
AU - Bayén, Laia
AU - Mateo, José
AU - Madoz, Pedro
AU - Stone, William
AU - Blangero, John
AU - Fontcuberta, Jordi
PY - 2000
Y1 - 2000
N2 - Lower levels of factor VIII and von Willebrand factor (vWF) have been reported in individuals with blood type O compared with individuals with other ABO blood types. However, this relationship has been demonstrated only by association studies and not by linkage studies. Also, it is not clear whether the ABO locus exerts a functional effect directly on these plasma factors or whether the ABO locus is in linkage disequilibrium with another locus that controls these factors. To distinguish between these 2 possibilities, we applied new statistical methods combining linkage and association tests in a pedigree-based sample. In contrast to most previous studies that used the ABO phenotypes, our study used the ABO genotypes, permitting us to distinguish AO from AA and BO from BB. Our results clearly showed significant linkage between the ABO locus and vWF antigen (P=0.00075). In addition, factor VIII coagulant activity and activated partial thromboplastin time showed suggestive linkage with the ABO locus (P=0.10 and P=0.13). All 3 plasma phenotypes showed significant differences between OO and non-OO genotypes. In addition, vWF antigen exhibited significant differences between O heterozygotes and non-OO homozygotes. This study is unique because it used a combined linkage and association test, which indicated that the ABO locus itself has a functional effect on these plasma phenotypes.
AB - Lower levels of factor VIII and von Willebrand factor (vWF) have been reported in individuals with blood type O compared with individuals with other ABO blood types. However, this relationship has been demonstrated only by association studies and not by linkage studies. Also, it is not clear whether the ABO locus exerts a functional effect directly on these plasma factors or whether the ABO locus is in linkage disequilibrium with another locus that controls these factors. To distinguish between these 2 possibilities, we applied new statistical methods combining linkage and association tests in a pedigree-based sample. In contrast to most previous studies that used the ABO phenotypes, our study used the ABO genotypes, permitting us to distinguish AO from AA and BO from BB. Our results clearly showed significant linkage between the ABO locus and vWF antigen (P=0.00075). In addition, factor VIII coagulant activity and activated partial thromboplastin time showed suggestive linkage with the ABO locus (P=0.10 and P=0.13). All 3 plasma phenotypes showed significant differences between OO and non-OO genotypes. In addition, vWF antigen exhibited significant differences between O heterozygotes and non-OO homozygotes. This study is unique because it used a combined linkage and association test, which indicated that the ABO locus itself has a functional effect on these plasma phenotypes.
KW - ABO blood group
KW - Factor VIII
KW - Functional polymorphism
KW - Genetics
KW - Von Willebrand factor
UR - http://www.scopus.com/inward/record.url?scp=0033889710&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0033889710&partnerID=8YFLogxK
M3 - Article
C2 - 10938027
AN - SCOPUS:0033889710
VL - 20
SP - 2024
EP - 2028
JO - Arteriosclerosis, Thrombosis, and Vascular Biology
JF - Arteriosclerosis, Thrombosis, and Vascular Biology
SN - 1079-5642
IS - 8
ER -