Hovatta I, Terwilliger J D, Lichtermann D, Mäkikyrö T, Suvisaari J, Peltonen L, Lönnqvist J
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
Am J Med Genet. 1997 Jul 25;74(4):353-60.
We compared the features of schizophrenia in the homogeneous population of Finland (population about 5,000,000) and in an internal isolate in northeastern Finland inhabited in the 1680s by a small group of founders (current population about 18,000) in a register-based epidemiological study. We identified all cases with a diagnosis of schizophrenia in Finland born between 1940-1969 using three national computerized registers and found a total of 267 schizophrenia patients in the internal isolate and 29,124 in Finland. The lifetime prevalence was 2.21% in the internal isolate and 1.21% in Finland, respectively. The age-corrected lifetime risk was 3.2% in the internal isolate and 1.1% in the whole country. The risk of schizophrenia to siblings in the internal isolate was 6.4% (95% confidence interval 0.052, 0.078), 9.1% (95% CI 0.062, 0.130), and 6.8% (95% CI 0.028, 0.135) given 1, 2, or 3 affected siblings, and for all Finland 4.2% (95% CI 0.036, 0.043), 6.4% (95% CI 0.058, 0.071), and 8.7% (95% CI 0.068, 0.107) given 1, 2, or 3, affected siblings, respectively. The mean number of children in schizophrenia families and thus the number of families having at least two affected individuals were clearly higher in the isolate (24.9% vs 9.2%). We did not find any other epidemiological features differing between these two regions. It seems that the family material collected from the internal isolate is a representative subsample from the entire country and hopefully it enables easier identification of at least some predisposing genes for schizophrenia due to its unique population structure.
在一项基于登记册的流行病学研究中,我们比较了芬兰同质人群(人口约500万)以及芬兰东北部一个内部隔离群体中精神分裂症的特征。该隔离群体在17世纪80年代由一小群创始人定居于此(目前人口约18000)。我们利用三个国家计算机化登记册,识别出芬兰1940年至1969年出生的所有精神分裂症确诊病例,在该内部隔离群体中总共发现267例精神分裂症患者,在芬兰则发现29124例。该内部隔离群体的终生患病率分别为2.21%,芬兰为1.21%。年龄校正后的终生风险在该内部隔离群体中为3.2%,在全国为1.1%。在该内部隔离群体中,若有1个、2个或3个患病兄弟姐妹,其患精神分裂症的风险分别为6.4%(95%置信区间0.052, 0.078)、9.1%(95%置信区间0.062, 0.130)和6.8%(95%置信区间0.028, 0.135);而在整个芬兰,若有1个、2个或3个患病兄弟姐妹,其患精神分裂症的风险分别为4.2%(95%置信区间0.036, 0.043)、6.4%(95%置信区间0.058, 0.071)和8.7%(95%置信区间0.068, 0.107)。精神分裂症患者家庭的平均子女数量,以及因此至少有两个患病个体的家庭数量,在该隔离群体中明显更高(分别为24.9%和9.2%)。我们未发现这两个地区之间存在任何其他流行病学特征差异。似乎从该内部隔离群体收集的家族资料是来自整个国家的代表性子样本,并且由于其独特的人口结构,有望更容易识别出至少一些精神分裂症的易感基因。