title: The effects of three factor VII polymorphisms on factor VII coagulant levels in healthy Singaporean Chinese, Malay and Indian newborns.
abstract: Factor VII (FVII) is an independent risk factor for coronary artery disease. Three polymorphisms of the factor VII gene (F7) were studied in a group of healthy newborns comprising 561 Chinese, 398 Malays and 226 Asian Indians from Singapore. The allele frequencies of 3 polymorphisms (R353Q, Promoter 0/10bp Del/Ins and Intron 7) in the FVII gene were ascertained through genotyping by polymerase chain reaction and restriction digestion of amplified fragments. In Chinese the minor allele frequencies are Q: 0.04, Ins: 0.03, R7: 0.44; Malays, Q: 0.06, Ins: 0.10, R7: 0.41; and Indians, Q: 0.25, Ins: 0.23, R7: 0.43. Strong linkage disequilibrium (Delta > 0.7) is observed between the 0/10 bp and the R353Q sites in all ethnic groups. We conclude that: (i) the prevalence of the minor Q and Ins alleles of the R353Q and 0/10 bp polymorphisms are significantly higher in the Indian newborns than the Chinese and Malays; (ii) the Q allele is significantly associated (p = 0.01) with a lower plasma FVII coagulant level in the Indian and Malay neonates; and this polymorphism explains up to 3.8% of the variance in FVII coagulant levels; (iii) there is no significant difference in allele frequencies of the three polymorphisms between neonates with and without family histories of CAD.
authors.affiliation: Department of Paediatrics, National University of Singapore, 5 Lower Kent Ridge Road, Singapore 119074.
authors.forename: S C
authors.initials: SC
authors.lastname: Quek
authors.forename: P S
authors.initials: PS
authors.lastname: Low
authors.forename: N
authors.initials: N
authors.lastname: Saha
authors.forename: C K
authors.initials: CK
authors.lastname: Heng
mesh_terms: D000941:Antigens / Q000097:blood*; D044466:Asian People / Q000235:genetics*; D002681:China / Q000208:ethnology; D003324:Coronary Artery Disease / Q000235:genetics; D003710:Demography; D005167:Factor VII / Q000235:genetics* / Q000378:metabolism; D005787:Gene Frequency; D006801:Humans; D007194:India / Q000208:ethnology; D007231:Infant, Newborn; D015810:Linkage Disequilibrium; D008296:Malaysia / Q000208:ethnology; D011110:Polymorphism, Genetic; D012846:Singapore / Q000453:epidemiology / Q000208:ethnology
chemical_list: D000941:Antigens; C042580:factor VII clotting antigen; D005167:Factor VII