| 1 | BMC Clin Pathol 2011 -1 11: 10 |
|---|---|
| PMID | 21867543 |
| Title | Functional characterization of the complement receptor type 1 and its circulating ligands in patients with schizophrenia. |
| Abstract | Whereas the complement system alterations contribute toschizophrenia, complement receptors and regulators are little studied. We investigated complement receptor type 1 (CR1) expression on blood cells, the levels of circulating immune complexes (CIC) containing ligands ofCR1, C1q补充蛋白质和C的碎片3 complement protein (C1q-CIC, C3d-CIC), andCR1C5507G functional polymorphism inschizophreniapatients and controls. We found an increased C1q-CIC level andCR1expression on blood cells, elevated number ofCR1positive erythrocytes and reduced number ofCR1positive lymphocytes and monocytes in patients compared to controls. No difference in the levels of C3d-CIC between groups was observed. HigherCR1expression on erythrocytes in CC genotype versus CG+GG for both groups was detected, whereas no difference was observed for other cell populations. Our results indicated thatschizophreniais associated with the increasedCR1expression and C1q-CIC level. Our study for the first time indicated thatschizophreniais associated with the increasedCR1expression and C1q-CIC level. Further studies in other ethnic groups are needed to replicate these findings. |
| SCZ Keywords | schizophrenia |
| 2 | Hum. Mol. Genet. 2013 Feb 22: 816-24 |
| PMID | 23148125 |
| Title | A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk. |
| Abstract | We assessed the role of rare copy number variants (CNVs) in Alzheimer's disease (AD) using intensity data from 3260 AD cases and 1290 age-matched controls from the genome-wide association study (GWAS) conducted by the Genetic and Environmental Risk for Alzheimer's disease Consortium (GERAD). We did not observe a significant excess of rare CNVs in cases, although we did identify duplications overlapping APP andCR1which may be pathogenic. We looked for an excess of CNVs in loci which have been highlighted in previous AD CNV studies, but did not replicate previous findings. Through pathway analyses, we observed suggestive evidence for biological overlap between single nucleotide polymorphisms and CNVs in AD susceptibility. We also identified that our sample of elderly controls harbours significantly fewer deletions >1 Mb than younger control sets in previous CNV studies onschizophreniaand bipolar disorder (P = 8.9 � 10(-4) and 0.024, respectively), raising the possibility that healthy elderly individuals have a reduced rate of large deletions. Thus, in contrast to diseases such asschizophrenia, autism and attention deficit/hyperactivity disorder, CNVs do not appear to make a significant contribution to the development of AD. |
| SCZ Keywords | schizophrenia |