| 1 | 精神分裂。res。2010 Jul 120: 131-42 |
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| PMID | 20347268 |
| Title | 收敛的证据表明，白细胞介素-1基因复合基因座与高加索人群中精神分裂症的敏感性呈正相关。 |
| Abstract | 最近的遗传研究表明，白介素-1（IL1）基因复合物（IL1 Alpha，IL1β和IL1受体拮抗剂）与精神分裂症，但也报道了矛盾的发现。我们研究了IL1基因复合基因座和精神分裂症使用荟萃分析技术，涵盖截至2010年1月的所有已发布数据，限于最常见的4个单核苷酸多态性（SNP）。我们还探索了异质性的潜在来源，并研究祖先和研究设计是否使任何关联调节。等位基因的赔率比（或）精神分裂症of the rs16944 (IL1B gene; T-511C) polymorphism was 0.86 (95% CI: 0.77to 0.96).When applying stratified analysis to this polymorphism, the pooled allele-wise OR was 0.88 (95% CI, 0.79 to 0.97) in 10 population-based studies and 0.85 (95% CI: 0.73 to 0.99) in Caucasian samples. In a stratified analysis of the rs1143634 (IL1B gene; T3953C) polymorphism, the pooled genotype-wise results in a dominant model were also statistically significant both in a population-based study subgroup with summary OR of 0.64 (95% CI: 0.41 to 0.99) and a Caucasian population subgroup with summary OR of 0.62 (95% CI: 0.40 to 0.97). Neither combined nor stratified analyses found any association of the rs1800587 (IL1A基因;T-889C）或RS1794068（IL1RA基因； IL1RN_86 bp; t/c）精神分裂症敏感性。我们的研究表明，IL1b基因或IL1基因复合物可能在病因中起中等作用精神分裂症在高加索人口中。 |
| SCZ Keywords | 精神分裂症 |
| 2 | 神经心理药理学2011年2月36日：616-26 |
| PMID | 21107309 |
| Title | 神经认知的全基因组药物基因组学研究是精神分裂症中抗精神病药物反应的指标。 |
| Abstract | Neurocognitive deficits are a core feature of精神分裂症and, therefore, represent potentially critical outcome variables for assessing antipsychotic treatment response. We performed genome-wide association studies (GWAS) with 492K single nucleotide polymorphisms (SNPs) in a sample of 738 patients with精神分裂症from the Clinical Antipsychotic Trials of Intervention Effectiveness study. Outcome variables consisted of a neurocognitive battery administered at multiple time points over an 18-month period, measuring processing speed, verbal memory, vigilance, reasoning, and working memory domains. Genetic mediation of improvements in each of these five domains plus a composite neurocognitive measure was assessed for each of five antipsychotics (olanzapine, perphenazine, quetiapine, risperidone, and ziprasidone). Six SNPs achieved genome-wide significance using a pre-specified threshold that ensures, on average, only 1 in 10 findings is a false discovery. These six SNPs were located within, or in close proximity to, genes EHF, SLC26A9, DRD2, GPR137B, CHST8, andIL1A。更健壮的发现,那些有积极ant across multiple neurocognitive domains and having adjacent SNPs showing evidence for association, were rs286913 at the EHF gene (p-value 6.99 � 10(-8), q-value 0.034, mediating the effects of ziprasidone on vigilance), rs11240594 at SLC26A9 (p-value 1.4 � 10(-7), q-value 0.068, mediating the effects of olanzapine on processing speed), and rs11677416 atIL1A（p值6.67 - 10（-7），Q值0.081，介导奥氮平对工作记忆的影响）。这项研究产生了几种新型候选基因，用于抗精神病药反应。但是，我们的发现将需要复制和功能验证。为了促进复制工作，我们提供所有GWAS P值供下载。 |
| SCZ Keywords | 精神分裂症 |
| 3 | 精神分裂。res。2015年12月169日：1-9 |
| PMID | 26481614 |
| Title | 在波兰人群中精神分裂症中，在白介素和白介素受体基因的功能多态性研究：IL1A，IL1A，IL1B，IL6R，IL6，IL6R，IL10RE，IL10RA，IL10RA和TGFB1。 |
| Abstract | 精神分裂症已经与各种自身免疫性疾病有关，任何自身免疫性疾病的病史与疾病风险增加45％有关。炎症系统可能会触发或调节精神分裂症通过影响神经发育，神经塑性和神经传递的复杂机制。特别是，出生前或生命初期的细胞因子的增加或失衡可能会影响神经发育并导致疾病脆弱性。共有27种IL1N基因的多态性：RS1800587，RS17561；IL1B基因：RS1143634，RS1143643，RS16944，RS4848306，RS1143623，RS1143633，RS1143627；IL1RN基因：RS419598，RS315952，RS9005，RS4251961;IL6基因：RS1800795，RS1800797;IL6R基因：RS4537545，RS4845617，RS2228145，IL10基因：RS1800896，RS1800871，RS1800872，RS1800872，RS1800890，RS1800890，RS666766671;IL10RA基因：RS2229113，RS3135932;TGF1B基因：RS1800469，RS1800470;在本研究中研究了每个基于功能的分子证据。 Analysis was performed on a group of 621 patients with diagnosis of精神分裂症和531个波兰人口的健康对照。IL1B基因中的RS4848306关联，IL1RN基因中的RS4251961，RS2228145和IL6R中的RS4537545和RS4537545精神分裂症have been observed. rs6676671 in IL10 was associated with early age of onset. Strong linkage disequilibrium was observed between analyzed polymorphisms in each gene, except of IL10RA. We observed that haplotypes composed of rs4537545 and rs2228145 in IL6R gene were associated with精神分裂症。Analyses with family history of精神分裂症, other psychiatric disorders and alcohol abuse/dependence did not show any positive findings. Further studies on larger groups along with correlation with circulating protein levels are needed. |
| SCZ Keywords | 精神分裂症 |
| 4 | Am. J. Med. Genet. B Neuropsychiatr. Genet. 2016 Mar 171: 181-202 |
| PMID | 26462458 |
| Title | 目前公认的精神分裂症基因：高分辨率染色体意识形态图。 |
| Abstract | 来自精神分裂症- 相关研究已经确beplay苹果手机能用吗定了各种基因和干扰的途径，支持复杂遗传成分参与精神分裂症频谱和其他精神病。遗传技术的进步和通过可搜索的基因组数据库扩大研究的扩展导致了多个已发表的报告，使我们能够汇编已知的，临床相关或易感基因的主列表，从而有助于精神分裂症。我们搜索了与精神分裂症以及来自同行评审的医学文献来源，权威公共访问精神病网站和基因组数据库的遗传学，专门用于基因发现和表征精神分裂症。我们的560个基因列表以字母顺序排列为表格形式，并放置在高分辨率人类染色体意识形态上的基因符号。在最终的基因列表上进行了基因组广泛的途径分析，以评估基础遗传结构精神分裂症。公认的临床相关性，易感性或因果关系的基因影响了广泛的生物学途径和机制，包括离子通道（例如CACNA1B，CACNA1C，CACNA1C，CACNA1H），代谢（例如CYP1A2，CYP1A2，CYP2C19，CYP2C19，CYP2D6），多个靶标的神经疗法，神经疗法的多个目标，GABA，谷氨酸和5-羟色胺功能，大脑发育（例如NRG1，RELN），信号肽（例如PIK3CA，PIK4CA）和免疫功能（例如HLA-DRB1，HLA-DRB1，HLA-DQA1）和Interleukins（例如IL1A, IL10, IL6). This summary will enable clinical and laboratory geneticists, genetic counselors, and other clinicians to access convenient pictorial images of the distribution and location of contributing genes to inform diagnosis and gene-based treatment as well as provide risk estimates for genetic counseling of families with affected relatives. � 2015 Wiley Periodicals, Inc. |
| SCZ Keywords | 精神分裂症 |