Moldin S O, Rice J P, Gottesman I I, Erlenmeyer-Kimling L
Department of Psychiatry, Washington University School of Medicine, St. Louis, MO.
Genet Epidemiol. 1990;7(2):163-76. doi: 10.1002/gepi.1370070206.
The genetic analysis of schizophrenia would be facilitated by identification of a heritable correlate of liability. Deviance on an index of Minnesota Multiphasic Personality Inventory (MMPI) signs is associated with the disease phenotype; the familial aggregation and mode of transmission of this continuous psychometric indicator have yet to be established. In this paper, we examine the indicator through commingling analysis and segregation analysis with both the mixed and unified models on 65 nuclear families containing 211 normal individuals. Evidence for a high degree of familiality is found. Analysis of untransformed data under a conditional likelihood provides evidence for Mendelian transmission of a major gene with commingling of two distributions. The frequency of the "high index score" allele is 0.15, with the gene accounting for 31% of the total population variance; such a locus would be relevant to the study of psychopathology as 28% of the population would carry at least one deviant allele. When power-transformed scores are used to eliminate skewness, there is evidence for one distribution and it is not possible to distinguish single gene from multifactorial (polygenic or cultural) inheritance. While our findings regarding mode of transmission must be interpreted cautiously and confirmation of a single locus requires further study, demonstration of familiality warrants continued investigation of the index as an indicator of liability for schizophrenia.
确定易感性的遗传相关因素将有助于精神分裂症的基因分析。明尼苏达多相人格调查表（MMPI）指标异常与该疾病表型相关；这一连续性心理测量指标的家族聚集性和传递模式尚未确定。在本文中，我们通过混合分析和分离分析，使用混合模型和统一模型，对65个核心家庭（包含211名正常个体）中的该指标进行了研究。发现了高度家族聚集性的证据。在条件似然性下对未转换数据的分析为一个主要基因的孟德尔式传递以及两种分布的混合提供了证据。“高指标分数”等位基因的频率为0.15，该基因占总群体方差的31%；这样一个位点与精神病理学研究相关，因为28%的人群将携带至少一个异常等位基因。当使用幂转换分数来消除偏态时，有证据表明存在一种分布，并且无法区分单基因遗传和多因素（多基因或文化）遗传。虽然我们关于传递模式的发现必须谨慎解释，且单个位点的确认需要进一步研究，但家族聚集性的证明值得继续将该指标作为精神分裂症易感性指标进行调查。
