Interleukin-1B promoter (−31T/C and −511C/T) polymorphisms in paranoid schizophrenia

Abstract

Activation of the inflammatory response system is related to the pathogenesis of schizophrenia. Higher plasma levels of IL-1B have been detected in schizophrenic patients therefore, the IL-1B gene has been considered as a candidate gene for schizophrenia (Laurent et al., 1997;Katila et al., 1999). To examine a genetic predisposition to schizophrenia, the authors investigated two polymorphisms: -31T/C (rs1143627) and -511C/T (rs16944) in the IL-1B promoter region. The patient group included 143 unrelated individuals [67 (46.8%) women and 76 (53.2%) men, mean age 42.2±12.2 years (M = 42.0; range: 20-65)]. All patients fulfilled the Diagnostic and Statistical Manual of Mental Disorders, 4th ed., Text Revision criteria for paranoid schizophrenia. The diagnosis was made by two independent psychiatrists. The control group included 206 healthy, unrelated individuals [75 (36.4%) women and 131 (63.6%) men whose average age was 42.2±8.8 years (M = 43.0; range: 20-61)]. The inclusion criteria involved a verification by a direct interview to determine whether the participants had any current psychiatric problems or a family history of psychiatric or neurological disorders. The individuals in both groups were of Caucasian Polish origin living in the Silesia region.The genomic DNA was isolated from whole-blood samples. The genotypes were determined using the PCR-RFLP method. For the -31T/C polymorphic site, the 420 bp PCR fragment was amplified and products were digested as described in Borkowska et al. (2011). For the -511C/T polymorphic site, the 304 bp PCR fragment was amplified and products were digested as described in Katila et al. (1999).

Targeting the Inflammatory Pathway as a Therapeutic Tool for Major Depression

“…The first is genetics. There have been some association studies exploring polymorphisms in cytokine genes, including IL-1 [52]. Initiatives to map the genome of individuals with MDD in genome-wide association studies found that TNF-α was identified as the only gene for which the association with MDD remained significant after correction for multiple testing [53].…”

Interleukin 1 beta gene and risk of schizophrenia: detailed case–control and family‐based studies and an updated meta‐analysis

“…We identified 19 case–control and family‐based studies that examined the association between rs16944 and schizophrenia. Three studies were excluded because of overlap with other reports (Katila et al ., ; Watanabe et al ., ) or extreme HWE deviation in the patient and control groups ( p = 6.33 × 10 ‐4 and 1.86 × 10 −5 , respectively) (Borkowska et al ., ). We performed a fixed effect model meta‐analysis of rs16944 using catmap (http://cran.r-project.org/src/contrib/Archive/catmap/).…”

“…Genetic variations in IL1B have previously been tested for association with schizophrenia, with conflicting results (Tatsumi et al ., ; Chowdari et al ., ; Meisenzahl et al ., ; Zanardini et al ., ; Papiol et al ., ; Rosa et al ., ; Shirts et al ., ; Hänninen et al ., ; Betcheva et al ., ; Sasayama et al ., ; Borkowska et al ., ; Fatjó‐Vilas et al ., ; Yoshida et al ., ). However, almost all of these earlier studies were performed using relatively small sample sizes and a limited number of markers.…”

The function of NOD‐like receptors in central nervous system diseases

“…Genetic research studies have shown that two pivotal cytokines, IL‐1β and IL‐18, are associated with major recurrent depression and the onset of depression in patients previously exposed to stressful life events (Alcocer‐Gomez and Cordero, ; Borkowska et al, ; Borkowska et al, ; Haastrup et al, ; Yang et al, ). Zhang et al reported that the expression levels of IL‐1β and NLRP3 were significantly increased in the brain of depressed mice (Zhang et al, ), which suggests that the activation of the NLRP3 inflammasome is involved in the pathogenesis of MDD.…”