Orstavik K H, Magnus P, Reisner H, Berg K, Graham J B, Nance W
Am J Hum Genet. 1985 Jan;37(1):89-101.
In order to establish the relative importance of genetic factors on the variation in plasma concentration of coagulation factors VIII and IX, these parameters were determined in 74 monozygotic and 84 like-sexed dizygotic twin pairs. The twins belonged to two age groups: 33-39 years and 57-62 years. Factor VIII was determined as factor VIII coagulant antigen (VIIICAg) and as factor VIII-related antigen (VIIIRAg). Factor IX was determined as factor IX antigen (IXAg). A higher value for each coagulation factor was found in the older-age group compared to the younger group, whereas no difference was found between the sexes. A significant correlation was found between values for VIIIRAg and VIIICAg (r = .56). For VIIICAg, it could be demonstrated that the age effect was secondary to the age effect on VIIIRAg. The concentration of VIIICAg and VIIIRAg varied among ABO blood types, being lowest in type O individuals, higher in A2 individuals, and highest in A1 and B individuals. The effect of the ABO locus on VIIICAg was secondary to an effect on VIIIRAg. Analysis of variance revealed a significant genetic influence on the variance of VIIICAg and VIIIRAg with a heritability estimate of .57 for VIIICAg and .66 for VIIIRAg. This is in agreement with a previous hypothesis of an effect of several autosomal genes on factor VIII concentration. Thirty percent of the genetic variance of VIIIRAg was due to the effect of ABO blood type. The ABO locus is therefore a major locus for the determination of factor VIII concentration. No significant genetic effect on the variation in plasma concentration of IXAg could be detected.
为确定遗传因素对凝血因子VIII和IX血浆浓度变异的相对重要性，对74对同卵双胞胎和84对同性异卵双胞胎进行了这些参数的测定。这些双胞胎分为两个年龄组：33 - 39岁和57 - 62岁。因子VIII测定为因子VIII凝血抗原（VIIICAg）和因子VIII相关抗原（VIIIRAg）。因子IX测定为因子IX抗原（IXAg）。与较年轻组相比，在较年长组中发现每种凝血因子的值更高，而在性别之间未发现差异。在VIIIRAg和VIIICAg的值之间发现显著相关性（r = 0.56）。对于VIIICAg，可以证明年龄效应继发于对VIIIRAg的年龄效应。VIIICAg和VIIIRAg的浓度在ABO血型之间有所不同，在O型个体中最低，在A2型个体中较高，在A1型和B型个体中最高。ABO基因座对VIIICAg的影响继发于对VIIIRAg的影响。方差分析显示对VIIICAg和VIIIRAg的变异有显著的遗传影响，VIIICAg的遗传度估计为0.57，VIIIRAg为0.66。这与先前关于几个常染色体基因对因子VIII浓度有影响的假设一致。VIIIRAg的遗传变异中有30%归因于ABO血型的影响。因此，ABO基因座是决定因子VIII浓度的主要基因座。未检测到对IXAg血浆浓度变异的显著遗传效应。
