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The Effects of Three Factor VII Polymorphisms on Factor VII Coagulant Levels in Healthy Singaporean Chinese, Malay and Indian Newborns
Author(s) -
Quek S. C.,
Low P. S.,
Saha N.,
Heng C. K.
Publication year - 2006
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.2006.00282.x
Subject(s) - allele , allele frequency , genotyping , minor allele frequency , linkage disequilibrium , malay , genetics , risk factor , biology , genotype , medicine , gene , haplotype , linguistics , philosophy
Summary 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 (Δ > 0.7) is observed between the 0/10bp 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.