| 1 | Genomics 2003 May 81: 510-8 |
|---|---|
| PMID | 12706109 |
| Title | High-resolution SNP scan of chromosome 6p21 in pooled samples from patients with complex diseases. |
| 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 and LTA. In the CD pool also, two earlier described associations were found with SNPs close to DRB1 and MICA. Additional associations were found in the schizophrenia and 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 Keywords | schizophrenia |
| 2 | Schizophr. Res. 2007 Jan 89: 173-6 |
| PMID | 17029750 |
| Title | The lymphotoxin Cys13Arg polymorphism and cognitive functioning in individuals with schizophrenia. |
| Abstract | Genetic factors that modulate the immune response have been implicated as risk factors for schizophrenia and cognitive impairment. We assessed the correlation between cognitive functioning and the LTA Cys13Arg polymorphism in 351 individuals with schizophrenia, 122 with bipolar disorder, and 160 controls. There was a significant association between cognitive functioning and the LTA Cys13Arg polymorphism within the schizophrenia (p<0.008) but not the other diagnostic groups. There was no association between cognitive functioning and the two other polymorphisms in the same gene complex. The LTA Cys13Arg polymorphism may represent a risk factor for cognitive impairment in individuals with schizophrenia. |
| SCZ Keywords | schizophrenia |
| 3 | Biomed Res Int 2015 -1 2015: 821827 |
| PMID | 26114114 |
| Title | Association between ANKK1 (rs1800497) and LTA (rs909253) Genetic Variants and Risk of Schizophrenia. |
| Abstract | Limited research has assessed associations between schizophrenia and 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) and LTA rs909253 (A>G) single-nucleotide polymorphisms in an Egyptian population. Among 120 patients with DSM-IV and PANSS (Positive and Negative Syndrome Scale) assessments of schizophrenia and 100 healthy controls, we determined the genotypes for the polymorphisms using endonuclease digestion of amplified genomic DNA. Results confirmed previous findings from different ethnic populations, in that the rs1800497 and rs909253 polymorphisms were both associated with risk of 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 to schizophrenia was 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 and LTA genetic markers and vulnerability to schizophrenia and show the potential influence of just one copy of the mutant C or G allele in the Egyptian population. |
| SCZ Keywords | 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 | Integrative medical and vocational rehabilitation 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. Nearly two thirds of the 1311 RPK rehabilitation patients met the diagnostic criteria for schizophrenia or 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 Keywords | schizophrenia |