Redline S, Tishler P V, Rosner B, Lewitter F I, Vandenburgh M, Weiss S T, Speizer F E
Department of Medicine, Channing Laboratory, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
Am J Epidemiol. 1989 Apr;129(4):827-36. doi: 10.1093/oxfordjournals.aje.a115197.
Population studies have demonstrated that obstructive airways disease aggregates within families. The authors used a twin family model of analysis to estimate the genetic and environmental influences on pulmonary function. A total of 1,635 members of 414 families of adult twins (252 monozygotic, 162 dizygotic) enrolled in the Greater Boston Twin Registry were studied between 1981 and 1982. Correlations in levels of forced expiratory volume in one second (FEV1) and forced vital capacity (FVC), adjusted for age, sex, height, and current smoking status, were compared among 16 groups of relatives sharing various degrees of genetic relatedness. A direct relation between shared genotype and the magnitude of the familial correlations for pulmonary function was observed. For FEV1, the correlations were 0.71 for monozygotic twins (100% shared genotype), 0.16 to 0.29 for relatives with 50% shared genotype, 0.09 to 0.27 for relatives with 25% shared genotype, 0.06 for cousins with 12.5% shared genotype, and -0.14 to 0.14 for unrelated family members. Correlations for FVC were similar. Stratification of the analysis by concordance or discordance for passive tobacco smoke exposure or for frequency with which families visited one another did not systematically alter these relations. These data suggest that phenotypic similarities in pulmonary function relate directly to genetic similarities, and are consistent with a multifactorial mode of inheritance.
人群研究表明，阻塞性气道疾病在家族中具有聚集性。作者采用双胞胎家族分析模型来评估基因和环境对肺功能的影响。1981年至1982年期间，对大波士顿双胞胎登记处登记的414个成年双胞胎家庭（252对同卵双胞胎，162对异卵双胞胎）的1635名成员进行了研究。在16组具有不同程度基因相关性的亲属中，比较了经年龄、性别、身高和当前吸烟状况调整后的一秒用力呼气量（FEV1）和用力肺活量（FVC）水平的相关性。观察到共享基因型与肺功能家族相关性大小之间存在直接关系。对于FEV1，同卵双胞胎（共享100%基因型）的相关性为0.71，共享50%基因型的亲属的相关性为0.16至0.29，共享25%基因型的亲属的相关性为0.09至0.27，共享12.5%基因型的表亲的相关性为0.06，无血缘关系的家庭成员的相关性为-0.14至0.14。FVC的相关性相似。根据被动吸烟暴露的一致性或不一致性或家庭相互拜访的频率对分析进行分层，并未系统地改变这些关系。这些数据表明，肺功能的表型相似性与基因相似性直接相关，并且与多因素遗传模式一致。
