Cambien F, Alhenc-Gelas F, Herbeth B, Andre J L, Rakotovao R, Gonzales M F, Allegrini J, Bloch C
(INSERM) U258, Hôpital Broussais, Paris, France.
Am J Hum Genet. 1988 Nov;43(5):774-80.
Plasma angiotensin I-converting enzyme (ACE) activity has been measured in a sample of 87 healthy families participating in a study of cardiovascular risk factors. The mean +/- SD levels of plasma ACE were 34.1 +/- 10.7, 30.7 +/- 10.4 and 43.1 +/- 17.2 units/liter in fathers (n = 87), mothers (n = 87) and offspring (n = 169), respectively. Plasma ACE was uncorrelated with age, height, weight, or blood pressure in the parents, but a negative correlation with age was observed in offspring (r = -.32). The age-adjusted familial correlations of plasma ACE were .038, .166, .323 and .303 for spouses, father-offspring, mother-offspring, and siblings, respectively. The results of the genetic analysis suggest that a major gene may affect the interindividual variability of plasma ACE, with different codominant effects in parents and offspring. According to this model, the major gene effect accounts for 4.8, 4.0, and 10.8 units/liter of the overall mean and for 29%, 29% and 75% of the variance of age-adjusted ACE in fathers, mothers, and offspring, respectively. The estimate of the probability of the less frequent allele is .26, and the major gene effect is approximately twice as great in high homozygotes than in heterozygotes and in offspring than in parents. The results of this study demonstrate the occurrence of a familial resemblance of plasma ACE activity in healthy families and suggest that this observation can be explained by the segregation of a major gene.
在一项心血管危险因素研究中,对87个健康家庭的样本进行了血浆血管紧张素I转换酶(ACE)活性测定。父亲(n = 87)、母亲(n = 87)和后代(n = 169)的血浆ACE平均水平±标准差分别为34.1±10.7、30.7±10.4和43.1±17.2单位/升。父母的血浆ACE与年龄、身高、体重或血压无关,但在后代中观察到与年龄呈负相关(r = -0.32)。血浆ACE的年龄校正家族相关性,配偶为0.038,父子为0.166,母子为0.323,兄弟姐妹为0.303。遗传分析结果表明,一个主要基因可能影响血浆ACE的个体间变异性,在父母和后代中有不同的共显性效应。根据该模型,主要基因效应分别占总体均值的4.8、4.0和10.8单位/升,分别占父亲、母亲和后代年龄校正后ACE方差的29%、29%和75%。低频等位基因概率的估计值为0.26,主要基因效应在高纯合子中约为杂合子的两倍,在后代中约为父母的两倍。本研究结果证明了健康家庭中血浆ACE活性存在家族相似性,并表明这一观察结果可由一个主要基因的分离来解释。