title: Genotype associations of factor VII gene with plasma factor VII coagulant activity and antigen levels in healthy Chinese.
abstract: A raised plasma factor VII (FVII) level is one of the risk factors for coronary artery disease. The R353Q polymorphism at codon 353 and the 10 base pair (bp) insertion (0/10 bp) polymorphism of the FVII gene have been reported to be associated with plasma FVII levels in several populations. We investigated these two polymorphisms in 209 male and 214 female healthy Chinese. The allele frequencies of 10 bp and Q were 0.036 and 0.045, respectively. Strong linkage disequilibrium was observed between these two sites (Delta = 0.85, P < 0.001). There were significant genotype associations of these two loci with FVII coagulant activity (FVIIc) and antigen (FVIIAg) levels. Heterozygous individuals had lower FVIIc and FVIIAg levels than those homozygous for the common alleles. When analyzed separately by gender, the 0/10 bp polymorphism was strongly associated with FVIIAg levels in males and females. However, both polymorphisms were significantly associated with FVIIc levels only in the females. The effect of 0/10 bp polymorphism predominated over that of the R353Q polymorphism in a two-way analysis of variance procedure. In the Chinese, the 10 bp insertion may reduce transcription of the FVII gene, leading to the decreased synthesis of FVII protein and thus FVIIc.
authors.affiliation: Department of Paediatrics, National University of Singapore, Singapore. gcslyq@sgh.com.sg
authors.forename: Y
authors.initials: Y
authors.lastname: Liu
authors.forename: C K
authors.initials: CK
authors.lastname: Heng
authors.forename: N
authors.initials: N
authors.lastname: Saha
authors.forename: S
authors.initials: S
authors.lastname: Hong
authors.forename: P S
authors.initials: PS
authors.lastname: Low
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D019943:Amino Acid Substitution; D000941:Antigens / Q000032:analysis*; D044466:Asian People / Q000235:genetics*; D002681:China / Q000208:ethnology; D004252:DNA Mutational Analysis; D005167:Factor VII / Q000032:analysis* / Q000737:chemistry / Q000235:genetics*; D005168:Factor VII Deficiency / Q000208:ethnology / Q000235:genetics*; D015942:Factor VIIa / Q000032:analysis*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012016:Reference Values; D012846:Singapore / Q000453:epidemiology
chemical_list: D000941:Antigens; C042580:factor VII clotting antigen; D005167:Factor VII; D015942:Factor VIIa