Kieseppä Tuula, Partonen Timo, Haukka Jari, Kaprio Jaakko, Lönnqvist Jouko
Department of Mental Health and Alcohol Research, National Public Health Institute, 00300 Helsinki 30, Finland.
Am J Psychiatry. 2004 Oct;161(10):1814-21. doi: 10.1176/ajp.161.10.1814.
The few studies of bipolar I disorder in twins have consistently emphasized the genetic contribution to disease liability. The authors report what appears to be the first twin study of bipolar I disorder involving a population-based twin sample, in which the diagnoses were made by using structured, personal interviews.
All Finnish same-sex twins (N=19,124) born from 1940 to 1957 were screened for a diagnosis of bipolar I disorder as recorded in the National Hospital Discharge Register between 1969 and 1991 or self-reported in surveys of the Finnish Twin Cohort in 1975, 1981, and 1990. Thirty-eight pairs were thereby identified and invited to participate in the study; the participation rate was 68%. Lifetime diagnoses were made by using the Structured Clinical Interview for DSM-IV. The authors calculated probandwise and pairwise concordances and correlations in liability and applied biometrical model fitting.
The probandwise concordance rates were 0.43 (95% CI=0.10 to 0.82) for monozygotic twins and 0.06 (95% CI=0.00 to 0.27) for dizygotic twins. The correlations in liability were 0.85 and 0.41, respectively. The model with no familial transmission was rejected. The best-fitting model was the one in which genetic and specific environmental factors explained the variance in liability, with a heritability estimate of 0.93 (95% CI=0.69 to 1.00).
The high heritability of bipolar disorder was demonstrated in a nationwide population-based twin sample assessed with structured personal interviews.
少数关于双相I型障碍的双生子研究一直强调遗传因素对患病风险的影响。作者报告了一项似乎是首个针对双相I型障碍的双生子研究，该研究采用基于人群的双生子样本，并通过结构化的个人访谈进行诊断。
对1940年至1957年出生的所有芬兰同性双生子（N = 19,124）进行筛查，以确定其是否被诊断为双相I型障碍，该诊断记录于1969年至1991年的国家医院出院登记册中，或在1975年、1981年和1990年的芬兰双生子队列调查中自我报告。由此确定了38对双生子并邀请他们参与研究；参与率为68%。使用《精神疾病诊断与统计手册》第四版的结构化临床访谈进行终生诊断。作者计算了先证者一致率和成对一致率以及患病风险的相关性，并应用生物统计学模型拟合。
同卵双生子的先证者一致率为0.43（95%可信区间 = 0.10至0.82），异卵双生子为0.06（95%可信区间 = 0.00至0.27）。患病风险的相关性分别为0.85和0.41。无家族传递的模型被拒绝。最佳拟合模型是遗传因素和特定环境因素解释了患病风险方差的模型，遗传度估计值为0.93（95%可信区间 = 0.69至1.00）。
在一个通过结构化个人访谈评估的全国性基于人群的双生子样本中，证实了双相情感障碍的高遗传度。
