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Molecular genetics of schizophrenia.

机译：精神分裂症的分子遗传学。

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1. Schizophrenia is a chronic, disabling brain disease that affects approximately 1% of the world's population. It is characterized by delusions, hallucinations and formal thought disorder, together with a decline in socio-occupational functioning. While the causes for schizophrenia remain unknown, evidence from family, twin and adoption studies clearly demonstrates that it aggregates in families, with this clustering largely attributable to genetic rather than cultural or environmental factors. Identifying the genes involved, however, has proven to be a difficult task because schizophrenia is a complex trait characterized by an imprecise phenotype, the existence of phenocopies and the presence of low disease penetrance. 2. The current working hypothesis for schizophrenia causation is that multiple genes of small to moderate effect confer compounding risk through interactions with each other and with non-genetic risk factors. The same genes may be commonly involved in conferring risk across populations or they may vary in number and strength between different populations. To search for evidence of such genetic loci, both candidate gene and genome-wide linkage studies have been used in clinical cohorts collected from a variety of populations. Collectively, these works provide some evidence for the involvement of a number of specific genes (e.g. the 5-hydroxytryptamine (5-HT) type 2a receptor (5-HT2a) gene and the dopamine D3 receptor gene) and as yet unidentified factors localized to specific chromosomal regions, including 6p, 6q, 8p, 13q and 22q. These data provide suggestive, but no conclusive, evidence for causative genes. 3. To enable further progress there is a need to: (i) collect fine-grained clinical datasets while searching the schizophrenia phenotype for subgroups or dimensions that may provide a more direct route to causative genes; and (ii) integrate recent refinements in molecular genetic technology, including modern composite marker maps, DNA expression assays and relevant animal models, while using the latest analytical techniques to extract maximum information in order to help distinguish a true result from a false-positive finding.
机译：1.精神分裂症是一种慢性致残性脑部疾病，约占世界人口的1％。它的特点是妄想，幻觉和形式思维障碍，以及社会职业功能下降。虽然精神分裂症的病因尚不清楚，但家庭，双胞胎和收养研究的证据清楚地表明，精神分裂症在家庭中聚集，这种聚集主要归因于遗传因素，而不是文化或环境因素。然而，鉴定涉及的基因已被证明是一项艰巨的任务，因为精神分裂症是一种复杂的特征，其特征是表型不精确，表型存在和疾病渗透率低。 2.精神分裂症病因的当前有效假设是，多个具有中小效应的基因通过相互之间以及与非遗传性危险因素的相互作用赋予复合危险。相同的基因通常可能参与跨人群的风险传递，或者它们在数量和强度上可能会有所不同。为了寻找这种遗传基因座的证据，候选基因和全基因组连锁研究已用于从各种人群中收集的临床队列中。总的来说，这些研究为某些特定基因（例如5-羟色胺（5-HT）2a型受体（5-HT2a）基因和多巴胺D3受体基因）的参与和尚存在的一些未知基因提供了证据。特定的染色体区域，包括6p，6q，8p，13q和22q。这些数据提供了致病基因的暗示性但非决定性的证据。 3.为了取得进一步的进展，有必要：（i）收集细粒度的临床数据集，同时搜索精神分裂症表型的亚组或维度，这些亚组或维度可能会提供更直接的致病基因途径; （ii）整合分子遗传技术的最新改进，包括现代复合标记图，DNA表达测定法和相关动物模型，同时使用最新的分析技术提取最大信息，以帮助将真实结果与假阳性结果区分开。

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