Association analysis of PDE4B polymorphisms with schizophrenia and smooth pursuit eye movement abnormality in a Korean population

Abstract

Abstract. Schizophrenia is a debilitating mental disorder with a high heritability rate. Located on chromosome 1p31.3, the human cAMP-specific 3',5'-cyclic phosphodiesterase 4B (PDE4B) gene has been considered as an important candidate gene for the risk of schizophrenia. Several genetic association studies reported the association between PDE4B polymorphisms and the risk of schizophrenia in Caucasian, African American, Indian, and Japanese populations. The aim of this study is to examine the association of PDE4B variations with schizophrenia and smooth pursuit eye movement (SPEM) abnormality in a Korean population. A case-control association analysis was carried out by comparing the genotype distribution of eight PDE4B polymorphisms between 457 schizophrenia patients and 386 normal healthy subjects. Differences in the frequency distribution of PDE4B single-nucleotide polymorphisms (SNPs) and haplotypes were analyzed by logistic regression analyses controlling for age as a covariate. Statistical analyses revealed nominal significant associations of rs1040716, rs472952, rs1321177, and rs2144719 with the risk of schizophrenia (p = 0.02~0.05). The rs11208756 polymorphism showed a nominal significant association with SPEM abnormality (p = 0.05). In a meta-analysis with Japanese and Korean populations, three SNPs (rs472952, rs1040716, and rs2180335) revealed significant associations with schizophrenia (meta-p value = 0.0038~0.019). Our results support previously reported association of PDE4B variations with schizophrenia in other populations. The findings in this study add a new evidence for the involvement of PDE4B gene in schizophrenia etiology.

Association of PDE4B Polymorphisms with Susceptibility to Schizophrenia: A Meta-Analysis of Case-Control Studies

“…Next, 106 irrelevant citations were excluded through screening of titles and abstracts and 15 articles were assessed for eligibility. After excluding seven citations for being not case-control studies, two studies [ 19 , 23 ] for insufficient data, though we tried to contact the authors for more information, and one study written in Chinese, five case-control studies [ 21 , 22 , 24 – 26 ] were finally included for this meta-analysis. The excluded articles and reasons were listed in S1 Text .…”

“…Additionally, they identified 14 SNPs of PDE4B gene associated with schizophrenia under a nominal P value of 0.05 [ 18 ]. Indeed, there have been accumulating studies investigating association of PDE4B variations with predisposition to schizophrenia across multi-ethnic populations, including Caucasian populations (Europeans [ 19 – 21 ], Caucasian Canadians [ 22 ] and Caucasian Americans [ 23 ]), Asian populations (Indians [ 18 ], Japanese [ 24 ], Chinese [ 25 ] and Koreans [ 26 ]), and African populations (African Americans [ 23 ]). The only meta-analysis concerning the association of PDE4B SNPs and schizophrenia was taken in Bae’s study[ 26 ], which just combined Korean population in their own study and Japanese population in Numata’s study[ 24 ].…”

PDE4B gene polymorphism in Russian patients with panic disorder

“…The rs1040716 substitution, in addition to being associated with PD [23], has also been shown to be associated with schizophrenia [24],[32],[33], however, other studies did not find any associations between rs1040716 and schizophrenia [8],[34]. SNPs rs10454453 and rs502958 have been studied in relation to panic disorder only [23].…”

Expression and significance of phosphodiesterase 4B gene in peripheral blood of patients with oral lichen planus

“…The phosphodiesterase 4B (PDE4B) gene is located in chromosome 1P31, which is a region of susceptibility genes linked to psychiatric disorders . Cell lines derived from family members with the t (1;16) translocation revealed that PDE4B protein expression was reduced by 50% .…”