Title Associations of ATF4 gene polymorphisms with schizophrenia in male patients
Authors Qu, Mei
Tang, Fulei
Wang, Lifang
Yan, Hao
Han, Yonghua
Yan, Jun
Yue, Weihua
Zhang, Dai
Affiliation Peking Univ, Inst Mental Hlth, Minist Hlth, Key Lab Mental Hlth, Beijing 100083, Peoples R China.
Peking Univ, Inst Mental Hlth, Minist Hlth, Key Lab Mental Hlth, 51 Hua Yuan Bei Rd, Beijing 100083, Peoples R China.
Keywords activating transcription factor 4 (ATF4)
haplotype
genetic association
ACTIVATING TRANSCRIPTION FACTOR-4
BIPOLAR DISORDER
SYNAPTIC PLASTICITY
DISC1
RECEPTOR
LINKAGE
MEMORY
INTERACTS
PROTEINS
RISK
Issue Date 2008
Publisher american journal of medical genetics part b neuropsychiatric genetics
Citation AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS.2008,147B,(6),732-736.
Abstract Activating transcription factor 4 (ATF4) is considered as a positional candidate gene for schizophrenia due to its location at chromosome 22q13, a region linked to schizophrenia. Furthermore, as protein interaction partner of ATF4, disrupted in schizophrenia 1 (DISC1) and its signal pathway implicated in the pathophysiology of schizophrenia have been widely supported by a number of genetic and neurobiological studies. Our aim was to investigate whether ATF4 is associated with schizophrenia in case-control samples of Han Chinese subjects consisting of 352 schizophrenia patients and 357 healthy controls. We detected 18 single nucleotide polyrnorphisms (SNPs) in ATF4 locus, two of which were analyzed, including one insertion at the putative core promoter region (rs17001266, -/C) and one nonsynonymous variant in exon 1 (rs4894, C/A, Pro22Gln). Allele distributions of two SNPs showed significant associations with schizophrenia in male subjects (respectively, rs17001266: P = 0.021, OR = 1.58, 95% CI=1.07-2.33; rs4894: P=0.004, OR=1.78, 95% CI=1.19-2.67), but not in female subjects as well as the entire population. Two haplotypes CC and -A constructed of rs17001266-rs4894 also revealed significant associations with schizophrenia in male group (global P=0.0097). These findings support that ATF4 gene may be involved in susceptibility to schizophrenia with sex-dependent effect in the Chinese Han population and suggest that further functional assays are needed to verify their relevance to the pathogenesis of schizophrenia. (c) 2007 Wiley-Liss, Inc.
URI http://hdl.handle.net/20.500.11897/197796
ISSN 1552-4841
DOI 10.1002/ajmg.b.30675
Indexed SCI(E)
PubMed
Appears in Collections: 第六医院

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