Abstract

Previous studies suggested that exploratory eye movement (EEM) dysfunction appears to be a biological marker specific to schizophrenia, with an unknown molecular mechanism. Genetic studies indicate that disrupted-in-schizophrenia-1 (DISC1), brain-derived neurotrophic factor (BDNF), and catechol-O-methyl transferase (COMT) genes might be implicated in the etiology of schizophrenia, but not in all populations. The present study aimed to explore associations between these candidate genes and EEM endophenotypes for schizophrenia in a Chinese Han population. EEM recordings were examined in 139 patients with schizophrenia and 143 healthy control participants. All five EEM parameters, responsive search score, cognitive search score, number of eye fixations, total eye scanning length, and mean eye scanning length, of schizophrenic patients differed significantly from those of healthy controls (P<0.001). The DISC1 SerCys, BDNF ValMet, and COMT ValMet were genotyped in a total sample of 818 schizophrenic patients and 827 healthy control participants, including the above EEM samples. We found that DISC1 Cys and BDNF Met were associated with an increased risk of developing schizophrenia (P<0.001). Furthermore, responsive search score scores of BDNF Met/Met carriers were significantly lower than those of Val allele carriers (P=0.022), which remained modest after Bonferroni correction. The BDNF MetMet polymorphism might be associated with the EEM dysfunction of schizophrenia.

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