The effects of three factor VII polymorphisms on factor VII coagulant levels in healthy Singaporean Chinese, Malay and Indian newborns

Ann Hum Genet. 2006 Nov;70(Pt 6):951-7. doi: 10.1111/j.1469-1809.2006.00282.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens / blood*
  • Asian People / genetics*
  • China / ethnology
  • Coronary Artery Disease / genetics
  • Demography
  • Factor VII / genetics*
  • Factor VII / metabolism
  • Gene Frequency
  • Humans
  • India / ethnology
  • Infant, Newborn
  • Linkage Disequilibrium
  • Malaysia / ethnology
  • Polymorphism, Genetic*
  • Singapore / epidemiology
  • Singapore / ethnology

Substances

  • Antigens
  • factor VII clotting antigen
  • Factor VII