Abstract:
:Plasma factor VIII coagulant activity (FVIII:C) level is a highly heritable quantitative trait that is strongly correlated with thrombosis risk. Polymorphisms within only 1 gene, the ABO blood-group locus, have been unequivocally demonstrated to contribute to the broad population variability observed for this trait. Because less than 2.5% of the structural FVIII gene (F8) has been examined previously, we resequenced all known functional regions in 222 potentially distinct alleles from 137 unrelated nonhemophilic individuals representing 7 racial groups. Eighteen of the 47 variants identified, including 17 single-nucleotide polymorphisms (SNPs), were previously unknown. As the degree of linkage disequilibrium across F8 was weak overall, we used measured-genotype association analysis to evaluate the influence of each polymorphism on the FVIII:C levels in 398 subjects from 21 pedigrees known as the Genetic Analysis of Idiopathic Thrombophilia project (GAIT). Our results suggested that 92714C>G, a nonsynonymous SNP encoding the B-domain substitution D1241E, was significantly associated with FVIII:C level. After accounting for important covariates, including age and ABO genotype, the association persisted with each C-allele additively increasing the FVIII:C level by 14.3 IU dL(-1) (P = .016). Nevertheless, because the alleles of 56010G>A, a SNP within the 3' splice junction of intron 7, are strongly associated with 92714C>G in GAIT, additional studies are required to determine whether D1241E is itself a functional variant.
journal_name
Bloodjournal_title
Bloodauthors
Viel KR,Machiah DK,Warren DM,Khachidze M,Buil A,Fernstrom K,Souto JC,Peralta JM,Smith T,Blangero J,Porter S,Warren ST,Fontcuberta J,Soria JM,Flanders WD,Almasy L,Howard TEdoi
10.1182/blood-2006-06-026104subject
Has Abstractpub_date
2007-05-01 00:00:00pages
3713-24issue
9eissn
0006-4971issn
1528-0020pii
blood-2006-06-026104journal_volume
109pub_type
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