McGuffin P, Sturt E
Hum Hered. 1986;36(2):65-88. doi: 10.1159/000153604.
A genetic contribution to schizophrenia is the best established aetiological clue for this common and serious condition. Purely statistical attempts to establish the mode of inheritance have yielded inconclusive results although SML models where a major gene is the sole cause of concordance between relatives can be effectively excluded. The question of genetic heterogeneity is also unresolved. Genetic marker studies offer potentially productive strategies for detecting major genes for schizophrenia or schizophrenia subtypes, but also offer the possibility of detecting contributory (minor) susceptibility loci. The most consistent genetic marker finding, to date, of an association between HLA A9 and paranoid schizophrenia may fall into the latter category. This and other possible associations discovered by recent population studies (e.g. with complement factors) merit further investigation. On the other hand, the findings of linkage studies, including those with HLA, have been predominantly negative. Recent advances in recombinant DNA technology, and the potential availability of many more polymorphisms, make genetic marker studies an increasingly attractive prospect in schizophrenia. However, as in other disorders with complex and non-Mendelian patterns of inheritance, there remain formidable problems in the statistical analysis of the results.
对于这种常见且严重的疾病,遗传因素对精神分裂症的影响是目前最确凿的病因线索。尽管可以有效排除主要基因是亲属间一致性唯一原因的单基因座模型,但通过纯统计学方法来确定遗传模式的尝试仍未得出明确结果。遗传异质性问题也尚未解决。基因标记研究为检测精神分裂症或精神分裂症亚型的主要基因提供了潜在的有效策略,但也有可能检测到起作用的(次要)易感基因座。迄今为止,HLA A9与偏执型精神分裂症之间关联的最一致的基因标记发现可能属于后者。近期人群研究发现的这一关联以及其他可能的关联(如与补体因子的关联)值得进一步研究。另一方面,包括那些涉及HLA的连锁研究结果大多为阴性。重组DNA技术的最新进展以及更多多态性的潜在可得性,使得基因标记研究在精神分裂症研究中越来越具有吸引力。然而,与其他具有复杂和非孟德尔遗传模式的疾病一样,在对结果进行统计分析时仍然存在巨大问题。