• Apoptotic engulfment pathway and schizophrenia.

      Chen, Xiangning; Sun, Cuie; Chen, Qi; O'Neill, F Anthony; Walsh, Dermot; Fanous, Ayman H; Chowdari, Kodavali V; Nimgaonkar, Vishwajit L; Scott, Adrian; Schwab, Sibylle G; et al. (2009)
      BACKGROUND: Apoptosis has been speculated to be involved in schizophrenia. In a previously study, we reported the association of the MEGF10 gene with the disease. In this study, we followed the apoptotic engulfment pathway involving the MEGF10, GULP1, ABCA1 and ABCA7 genes and tested their association with the disease. METHODOLOGY/PRINCIPAL FINDINGS: Ten, eleven and five SNPs were genotyped in the GULP1, ABCA1 and ABCA7 genes respectively for the ISHDSF and ICCSS samples. In all 3 genes, we observed nominally significant associations. Rs2004888 at GULP1 was significant in both ISHDSF and ICCSS samples (p = 0.0083 and 0.0437 respectively). We sought replication in independent samples for this marker and found highly significant association (p = 0.0003) in 3 Caucasian replication samples. But it was not significant in the 2 Chinese replication samples. In addition, we found a significant 2-marker (rs2242436 * rs3858075) interaction between the ABCA1 and ABCA7 genes in the ISHDSF sample (p = 0.0022) and a 3-marker interaction (rs246896 * rs4522565 * rs3858075) amongst the MEGF10, GULP1 and ABCA1 genes in the ICCSS sample (p = 0.0120). Rs3858075 in the ABCA1 gene was involved in both 2- and 3-marker interactions in the two samples. CONCLUSIONS/SIGNIFICANCE: From these data, we concluded that the GULP1 gene and the apoptotic engulfment pathway are involved in schizophrenia in subjects of European ancestry and multiple genes in the pathway may interactively increase the risks to the disease.
    • Frontonasal dysmorphology in bipolar disorder by 3D laser surface imaging and geometric morphometrics: comparisons with schizophrenia.

      Hennessy, Robin J; Baldwin, Patrizia A; Browne, David J; Kinsella, Anthony; Waddington, John L; Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, St. Stephen's Green, Dublin 2, Ireland. (2010-09)
      Any developmental relationship between bipolar disorder and schizophrenia engenders continuing debate. As the brain and face emerge in embryological intimacy, brain dysmorphogenesis is accompanied by facial dysmorphogenesis. 3D laser surface imaging was used to capture the facial surface of 13 male and 14 female patients with bipolar disorder in comparison with 61 male and 75 female control subjects and with 37 male and 32 female patients with schizophrenia. Surface images were analysed using geometric morphometrics and 3D visualisations to identify domains of facial shape that distinguish bipolar patients from controls and bipolar patients from those with schizophrenia. Both male and female bipolar patients evidenced significant facial dysmorphology: common to male and female patients was overall facial widening, increased width of nose, narrowing of mouth and upward displacement of the chin; dysmorphology differed between male and female patients for nose length, lip thickness and tragion height. There were few morphological differences in comparison with schizophrenia patients. That dysmorphology of the frontonasal prominences and related facial regions in bipolar disorder is more similar to than different from that found in schizophrenia indicates some common dysmorphogenesis. Bipolar disorder and schizophrenia might reflect similar insult(s) acting over slightly differing time-frames or slightly differing insult(s) acting over a similar time-frame.
    • Schizophrenia and quality of life: a one-year follow-up in four EU countries.

      Kovess-Masféty, Viviane; Xavier, Miguel; Moreno Kustner, Berta; Suchocka, Agnieszka; Sevilla-Dedieu, Christine; Dubuis, Jacques; Lacalmontie, Elisabeth; Pellet, Jacques; Roelandt, Jean-Luc; Walsh, Dermot; et al. (2006)
      BACKGROUND: This article systematically monitors the quality of life (QOL) of patients with schizophrenia from seven different sites across four European countries: France, Ireland, Portugal and Spain. METHODS: A one-year prospective cohort study was carried out. Inclusion criteria for patients were: a clinical lifetime diagnosis of schizophrenia according to ICD-10 (F20) diagnostic criteria for research, age between 18 and 65 years and at least one contact with mental health services in 1993. Data concerning QOL were recorded in seven sites from four countries: France, Portugal, Ireland and Spain, and were obtained using the Baker and Intagliata scale. At baseline, 339 patients answered the QOL questionnaire. At one-year follow-up, Spain could not participate, so only 263 patients were contacted and 219 agreed to take part. QOL was compared across centres by areas and according to a global index. QOL was correlated with presence of clinical and social problems, needs for care and interventions provided during the one-year follow-up. RESULTS: We did not find any link between gender and QOL. There were some significant differences between centres concerning many items. What is more, these differences were relative: in Lisbon where the lowest level of satisfaction was recorded, people were satisfied with food but highly dissatisfied with finances, whereas in St Etienne, where the highest level of satisfaction was recorded, people were less satisfied with food when they were more satisfied with finances. The evolution in one year among those respondents who took part in the follow-up (excluding the subjects from Granada) showed different patterns depending on the items. CONCLUSION: The four countries have different resources and patients live in rather different conditions. However, the main differences as far as their QOL is concerned very much depend on extra-psychiatric variables, principally marital status and income.