McGue M, Gottesman I I, Rao D C
Am J Hum Genet. 1983 Nov;35(6):1161-78.
Family studies of schizophrenia have reported elevated rates of both definite and definite-plus-probable schizophrenia among the relatives of definite schizophrenics. These elevated rates imply a strong association between the two forms of diagnosis and suggest some form of familial transmission. Here we have used recently developed maximum likelihood methods to investigate this association and characterize the nature of the familial transmission. Results indicated that although the two forms of diagnosis were strongly related, they could not be considered alternative manifestations of a single liability distribution. Heritability estimates for either form of diagnosis were comparable (h2 = .668 +/- .052 and c2 = .191 +/- .038 for definite while h2 = .628 +/- .073 and c2 = .236 +/- .106 for definite-plus-probable), although cultural transmission (i.e., c2) was statistically significant only for definite-plus-probable. For either form of diagnosis, residual twin resemblance was statistically significant and could not be explained in terms of the effects of genetic dominance. These results are comparable to those of an earlier analysis based upon a similar data set. Finally, the statistical correction used to adjust for between-study heterogeneity in morbidity risk figures did not noticeably alter the parameter estimates.
精神分裂症的家族研究报告称,确诊精神分裂症患者的亲属中,确诊精神分裂症以及确诊加可能精神分裂症的发病率均有所升高。这些升高的发病率意味着两种诊断形式之间存在强烈关联,并提示某种形式的家族遗传。在此,我们使用最近开发的最大似然法来研究这种关联,并描述家族遗传的性质。结果表明,虽然两种诊断形式密切相关,但它们不能被视为单一易感性分布的替代表现。两种诊断形式的遗传度估计值相当(确诊精神分裂症的h2 = 0.668 ± 0.052,c2 = 0.191 ± 0.038;确诊加可能精神分裂症的h2 = 0.628 ± 0.073,c2 = 0.236 ± 0.106),尽管文化传递(即c2)仅在确诊加可能精神分裂症中具有统计学意义。对于任何一种诊断形式,双胞胎的残余相似性具有统计学意义,且无法用遗传显性效应来解释。这些结果与基于类似数据集的早期分析结果相当。最后,用于调整发病率风险数据研究间异质性的统计校正并未显著改变参数估计值。