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Objective: To investigate the potential association between the ratio of the second digit length to the fourth digit length (2D:4D) and schizophrenia, to provide evidence regarding the pathogenesis of schizophrenia., Methods: In this study, we enrolled 843 patients with schizophrenia (387 men and 456 women), all of whom met the diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV), and 1050 normal healthy controls (477 men and 573 women). The digit lengths of both hands were measured in all subjects and the 2D:4D ratio was analyzed., Results: In the healthy controls, the 2D:4D ratio was sexually dimorphic, with a larger value in women than in men. In addition, the 2D:4D ratio in the schizophrenia patients was significantly larger than in the healthy controls. The 2D:4D ratio of the right hand was more sexually dimorphic than the left hand. Furthermore, the difference in 2D:4D ratios between the male patients and male controls was significantly larger than in their female counterparts., Conclusions: By analyzing the 2D:4D ratio and considering alternative factors related to schizophrenia, our findings support the hypothesis that there are abnormal cerebral conditions in schizophrenia patients.

Abstract: Studies have shown that minor physical anomalies (MPAs) may be associated with schizophrenia. However, it remains unclear whether any items of MPAs are more associated with schizophrenia than the others. We aimed to examine which specific MPAs are more associated with schizophrenia than others. A total of 154 patients with schizophrenia and 152 healthy controls were assessed using candidate MPAs items along with items from the Waldrop scale. Significant differences were found between the patients and controls in inner canthal distance, epicanthus, adherent ear lobe, cuspidal ear and length difference from section index to ring finger (2D:4D length difference) as well as gap between the first and the second toes. These six items were selected by the logistic regression model, which correctly classified 89.0% of patients with schizophrenia (sensitivity) and 96.7% of healthy controls (specificity). The overall classification success rate was 92.8%. MPAs are associated with neurodevelopment, especially 2D:4D associated with cerebral lateralisation. Hence, our present findings support that it is necessary to evaluate MPAs beyond the Waldrop scale, as some item, such as 2D:4D length difference may reflect the more detailed aberrant neurodevelopment of schizophrenia. [Copyright &y& Elsevier]

Abstract: The present study explored minor physical anomaly items relevant to schizophrenia in order to establish a scale that can distinguish schizophrenia from controls using newly identified items along with items from the refined Waldrop scale. Seven items were significantly more frequent among schizophrenia patients (N =218) than controls (N =226). Among these seven items, two novel features, strabismus and ‘cuspidal ear’ showed markedly different prevalence rates between schizophrenia and control groups. A six-item scale, including the newly identified strabismus and cuspidal ear, was selected for most accurately discriminating patients with schizophrenia from controls. This scale correctly classified 59.6% of patients and 78.9% of control subjects. This new scale is procedurally more exacting and quantitative, and more relevant to schizophrenia than the original Waldrop scale. The validity of this scale should be sound since it was tested on a larger number of cohorts than used in previous research. Our scale can be used as a biomarker for predicting risk for future development of schizophrenia. The scale may also facilitate the identification of schizophrenia susceptibility genetic/environmental factors by stratifying etiologically heterogeneous patients according to physical abnormalities. [Copyright &y& Elsevier]

Abstract: The catechol-O-methyl transferase (COMT) gene has been a promising candidate in genetic research on schizophrenia because of its function in dopamine metabolism and its location on chromosome 22q11.2, which may be implicated in both schizophrenia and velocardiofacial syndrome (VCFS). To explore the possible genetic contribution of COMT to the development of schizophrenia, we focused on the subgroup of patients with schizophrenia characterized by minor physical anomalies as a phenotype and the 158 Val/Met polymorphism as a genotype. Since some physical anomalies are found in both schizophrenia and VCFS, schizophrenia patients with minor physical anomalies could represent the putative subgroup of schizophrenia linked to a disruption in neurodevelopment. Genotyping for the 158 Val/Met (472 G>A) polymorphism in the COMT gene was done for 239 patients with schizophrenia and 248 normal controls. Our analysis did not yield any significant between-group differences in terms of either allele or genotype frequency. We also could not find any association between the COMT gene and the schizophrenia subgroup with minor physical anomalies, although there was a significant difference in Waldrop total scores between the patients with schizophrenia and the normal controls. Analyses of subgroups based on other clinical variables also did not reveal significant differences. Overall, this study does not support the hypothesis that the 158 Val/Met polymorphism in the COMT gene is associated with schizophrenia in Koreans. [Copyright &y& Elsevier]

Objectives: (1) To test the hypothesis that minor physical anomalies are increased in patients with schizophrenia and (2) to investigate differences in the prevalence of minor physical anomalies in patients with familial and sporadic schizophrenia and their first degree relatives.Methods: A weighted Waldrop assessment was carried out on 214 subjects in five groups: schizophrenic patients from multiply affected families; first degree relatives of these familial schizophrenic patients; sporadic schizophrenic patients; first degree relatives of these sporadic schizophrenic patients, and normal controls. Broad and narrow criteria for abnormality were defined based on the distribution of minor physical anomalies in the control group.Results: (1) The total schizophrenic group did not have a significant increase in minor physical anomalies using a narrow criterion of abnormality, but did when a broader criterion was used. (2) A significant increase in the proportion of subjects with an abnormally high number of minor physical abnormalities was shown in the group of sporadic schizophrenic patients (uncorrected p<0.01). Separate analyses for males and females showed a significant increase in the male sporadic group (uncorrected p<0.05), and a smaller non-significant increase in the female sporadic group. Neither the familial schizophrenic group nor either group of first degree relatives showed any significant increases in the proportion of patients with high abnormality scores.Conclusion: This work supports prenatal developmental abnormality as a mechanism for sporadic, but not familial, schizophrenia. [ABSTRACT FROM AUTHOR]