| 1 | Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008 Oct 147B: 1231-7 |
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| PMID | 18404645 |
| Title | FBXL21 association with schizophrenia in Irish family and case-control samples. |
| Abstract | FBXL21gene encodes an F-box containing protein functioning in the SCF ubiquitin ligase complex. The role of the F-box protein is to recruit proteins designated for degradation to the ligase complex so they would be ubiquitinated. Using both family and case-control samples, we found consistent associations in and aroundFBXL21gene. In the family sample (Irish study of high densityschizophreniafamilies, ISHDSF, 1,350 subjects from 273 families), a minimal PDT P-value of 0.0011 was observed at rs31555. In the case-control sample (Irish case-control study ofschizophrenia, ICCSS, 814 cases and 625 controls), significant associations were observed at two markers (rs1859427 P = 0.0197, and rs6861170 P = 0.0197). In haplotype analyses, haplotype 1-1 (C-T) of rs1859427-rs6861170 was overtransmitted in the ISHDSF (P = 0.0437) and was overrepresented in the ICCSS (P = 0.0177). For both samples, the associated alleles and haplotypes were identical. These data suggested thatFBXL21may be associated withschizophreniain the Irish samples. |
| SCZ Keywords | schizophrenia |
| 2 | Genet Res (Camb) 2014 -1 96: e15 |
| PMID | 25578144 |
| Title | Investigation of genetic variants in ubiquitin enzyme genes involved in the modulation of neurodevelopmental processes: a role in schizophrenia susceptibility? |
| Abstract | Despite extensive research during the last few decades, the etiology ofschizophreniaremains unclear. Evidence of both genetic and environmental influences in the developmental profile ofschizophreniahas grown, and due to the complexity of this disorder, a polygenic aspect has been associated with this neuropsychiatric pathology. Unfortunately, no diagnostic strategies based on biological measurement or genetic testing is currently available forschizophrenia。最近的基因表达分析和蛋白质斯图dies have shown a decrease in the expression of ubiquitin pathway proteins in the prefrontal cortex ofschizophreniapatients. We have examined single nucleotide polymorphisms (or SNPs) within three genes from the ubiquitin protein system: the ubiquitin conjugating enzyme E2D1 (UBE2D1) gene, the E3 SUMO-protein ligase protein inhibitor of activated STAT 2 (PIAS2) gene, and the E3 ubiquitin ligase F-box and leucine-rich repeat protein 21 (FBXL21) gene, in a Caucasian case-control population forschizophrenia。After Bonferroni correction for multiple testing was applied, no significant associations were reported for any of the tested SNPs. Additional genetic analyses will be necessary to fully explore the role of these three genes inschizophrenia。Regarding the rising interest in ubiquitin-related proteins as a therapeutic target in other pathologies such as cancer, further research into the role of ubiquitin pathways inschizophreniaseems topical and timely. |
| SCZ Keywords | schizophrenia |