title: Association of PDE4B polymorphisms and schizophrenia in Northwestern Han Chinese.
abstract: The phosphodiesterase 4B (PDE4B) is a candidate susceptibility gene for schizophrenia (SCZ), interacting with DISC1, a known genetic risk factor for SCZ. To examine if variants within PDE4B gene are associated with SCZ in Northwestern Han Chinese, and if these effects vary in gender-specific subgroup, we analyzed 20 SNPs, selected from previous studies and preliminary HapMap data analyses with minor allele frequency (MAF) ≥ 20%, in a cohort of 428 cases and 572 controls from genetically independent Northwestern Han Chinese. Single SNP association, haplotype association and sex-specific association analysis were performed. We found that rs472952 is significantly associated with SCZ and rs7537440 is associated with SCZ in females. Further analysis indicated that a haplotype block spanning PDE4B2 splice site is highly associated with SCZ and several haplotypes in this block have about twofold to threefold increase in cases. Our results provide further evidence that PDE4B may play important roles in the etiology of SCZ.
authors.affiliation: Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education, Xi'an, China.
authors.forename: Fanglin
authors.initials: F
authors.lastname: Guan
authors.forename: Chen
authors.initials: C
authors.lastname: Zhang
authors.forename: Shuguang
authors.initials: S
authors.lastname: Wei
authors.forename: Hongbo
authors.initials: H
authors.lastname: Zhang
authors.forename: Xiaomin
authors.initials: X
authors.lastname: Gong
authors.forename: Jiali
authors.initials: J
authors.lastname: Feng
authors.forename: Chengge
authors.initials: C
authors.lastname: Gao
authors.forename: Rong
authors.initials: R
authors.lastname: Su
authors.forename: Huanming
authors.initials: H
authors.lastname: Yang
authors.forename: Shengbin
authors.initials: S
authors.lastname: Li
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D054703:Cyclic Nucleotide Phosphodiesterases, Type 4 / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000208:ethnology* / Q000235:genetics*
chemical_list: C412476:DISC1 protein, human; D009419:Nerve Tissue Proteins; D054703:Cyclic Nucleotide Phosphodiesterases, Type 4; C517360:PDE4B protein, human