Association analysis of PDE4B polymorphisms with schizophrenia and smooth pursuit eye movement abnormality in a Korean population.
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.
Laboratory of Translational Genomics, Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Republic of Korea.
Joon Seol
JS
Bae
Byung-Lae
BL
Park
Hyun Sub
HS
Cheong
Jeong-Hyun
JH
Kim
Jason Yongha
JY
Kim
Suhg
S
Namgoong
Ji-On
JO
Kim
Chul Soo
CS
Park
Bong-Jo
BJ
Kim
Cheol-Soon
CS
Lee
Jae-Won
JW
Kim
Woo Hyuk
WH
Choi
Tae-Min
TM
Shin
Jaeuk
J
Hwang
In Song
IS
Koh
Hyoung Doo
HD
Shin
Sung-Il
SI
Woo
D000328:Adult; D015897:Comorbidity; D054703:Cyclic Nucleotide Phosphodiesterases, Type 4 / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007564:Japan / Q000453:epidemiology; D007723:Korea / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D015835:Ocular Motility Disorders / Q000453:epidemiology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D012307:Risk Factors; D012559:Schizophrenia / Q000453:epidemiology* / Q000235:genetics*; D055815:Young Adult
D054703:Cyclic Nucleotide Phosphodiesterases, Type 4; C517360:PDE4B protein, human