| 1 | Genomics 2003 May 81: 510-8 |
|---|---|
| PMID | 12706109 |
| Title | 来自复杂疾病患者的汇总样品中的6p21染色体染色体的高分辨率SNP扫描。 |
| Abstract | We apply a high-throughput protocol of chip-based mass spectrometry (matrix-assisted laser desorption/ionization time-of-flight; MALDI-TOF) as a method of screening for differences in single-nucleotide polymorphism (SNP) allele frequencies. Using pooled DNA from individuals with asthma, Crohn's disease (CD),schizophrenia, type 1 diabetes (T1D), and controls, we selected 534 SNPs from an initial set of 1435 SNPs spanning a 25-Mb region on chromosome 6p21. The standard deviations of measurements of time of flight at different dots, from different PCRs, and from different pools indicate reliable results on each analysis step. In 90% of the disease-control comparisons we found allelic differences of <10%. Of the T1D samples, which served as a positive control, 10 SNPs with significant differences were observed after taking into account multiple testing. Of these 10 SNPs, 5 are located between DQB1 and DRB1, confirming the known association with the DR3 and DR4 haplotypes whereas two additional SNPs also reproduced known associations of T1D with DOB andLTA. In the CD pool also, two earlier described associations were found with SNPs close to DRB1 and MICA. Additional associations were found in theschizophreniaand asthma pools. They should be confirmed in individual samples or can be used to develop further quality criteria for accepting true differences between pools. The determination of SNP allele frequencies in pooled DNA appears to be of value in assigning further genotyping priorities also in large linkage regions. |
| SCZ关键字 | schizophrenia |
| 2 | Schizophr. Res. 2007 Jan 89: 173-6 |
| PMID | 17029750 |
| Title | 这lymphotoxin Cys13Arg polymorphism and cognitive functioning in individuals with schizophrenia. |
| Abstract | Genetic factors that modulate the immune response have been implicated as risk factors forschizophrenia和认知障碍。我们评估了认知功能与LTACys13Arg polymorphism in 351 individuals withschizophrenia, 122 with bipolar disorder, and 160 controls. There was a significant association between cognitive functioning and theLTACys13Arg polymorphism within theschizophrenia（p <0.008），但没有其他诊断组。在同一基因复合物中，认知功能与其他两个多态性之间没有关联。这LTACys13Arg polymorphism may represent a risk factor for cognitive impairment in individuals withschizophrenia. |
| SCZ关键字 | schizophrenia |
| 3 | Biomed Res Int 2015 -1 2015: 821827 |
| PMID | 26114114 |
| Title | ANKK1（RS1800497）和LTA（RS909253）遗传变异与精神分裂症风险之间的关联。 |
| Abstract | Limited research has assessed associations betweenschizophreniaand genetic variants of the ankyrin repeat and kinase domain containing 1 (ANKK1) and lymphotoxin-alpha (LTA) genes among individuals of Middle Eastern ancestry. Here we present the first association study investigating the ANKK1 rs1800497 (T>C) andLTArs909253 (A>G) single-nucleotide polymorphisms in an Egyptian population. Among 120 patients with DSM-IV and PANSS (Positive and Negative Syndrome Scale) assessments ofschizophrenia和100个健康对照，我们使用放大基因组DNA的内切酶消化确定了多态性的基因型。结果证实了以前来自不同种族的发现，因为RS1800497和RS909253多态性都与有风险有关schizophrenia. Differences between the genotypes of cases and controls were strongly significant (P = 0.0005 for rs1800497 and P = 0.001 for rs909253). The relative risk toschizophreniawas 1.2 (P = 0.01) for the C allele and 0.8 (P = 0.04) for the G allele. The CC, GG, and combined CC/AA genotypes were all more frequent in cases than in controls. These results support an association between ANKK1 andLTAgenetic markers and vulnerability toschizophreniaand show the potential influence of just one copy of the mutant C or G allele in the Egyptian population. |
| SCZ关键字 | schizophrenia |
| 4 | Nervenarzt 2015 May 86: 603-8 |
| PMID | 25515336 |
| Title | [Medical and vocational rehabilitation in rehabilitation facilities for people with mental illnesses in Germany: Analysis of admission and discharge data]. |
| Abstract | 综合医疗和职业康复has been implemented in Germany in rehabilitation facilities for people with mental illnesses (RPK). In all 52 RPK facilities in Germany the admission and discharge data of all rehabilitation patients are collected and accumulated at facility level before they are combined at the registration office of the Federal Association of RPKs (BAG RPK). This study is based on a descriptive analysis of admission and discharge data of 1311 rehabilitation patients in the year 2010. 在1311 RPK康复患者中，将近三分之二符合诊断标准schizophreniaor affective disorders. A subgroup of 39.1?% of all patients participated in vocational RPK measures (programs for participation in working life,LTA) after having received medical RPK measures. After completion of the vocational RPK measures 38?% of the rehabilitation patients were employed and 26?% were in education and retraining, i.e. 64?% of the patients were employed in the labor market or in educational measures. The housing and living conditions of the majority of patients changed in the direction of increased autonomy after completion of the RPK measures. For people with severe mental illnesses, RPKs can be a place of successful rehabilitative measures facilitating participation in community life. Future studies need to investigate predictors of outcome. |
| SCZ关键字 | schizophrenia |