Common Variants in Major Histocompatibility Complex Region and TCF4 Gene Are Significantly Associated with Schizophrenia in Han Chinese

Li, Tao; Li, Zhiqiang; Chen, Peng; Zhao, Qian; Wang, Ti; Huang, Ke; Li, JunYan; Li, You; Liu, Jie; Zeng, Zhen; Gao, Feng; He, Lin; Shi, Yongyong

doi:10.1016/j.biopsych.2010.06.014

Cited by 72 publications

(64 citation statements)

References 8 publications

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“…The allele frequency of this SNP (with the A allele frequency was 0.112) was consistent with Li et al's study (0.103) (Li et al, 2010). No deviation from Hardy-Weinberg equilibrium was found in the total sample (P-values40.05).…”

Section: Resultssupporting

confidence: 91%

“…A recent study in Han Chinese population using 2496 SCZ patients and 5184 healthy controls also supported that finding (Li et al, 2010). TCF4 is critical for normal brain development (Flora et al, 2007).…”

Section: Introductionmentioning

confidence: 57%

“…Very close to rs9960767 (B6 kbp) and in the same intron (intron 4) is another SNP (rs2958182) that is in complete linkage disequilibrium with rs9960767 in the HapMap European samples. This SNP is polymorphic among Chinese and has been suggested as a risk SNP for SCZ (Li et al, 2010). However, the reported risk allele of rs2958182 was the major allele (T), not the minor allele (A) that was linked to the risk C allele of rs9960767 for Europeans.…”

Section: Introductionmentioning

confidence: 96%

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Associations between TCF4 Gene Polymorphism and Cognitive Functions in Schizophrenia Patients and Healthy Controls

Zhu

Liu

et al. 2012

Neuropsychopharmacol

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The SNP rs2958182 was reported to be significantly associated with schizophrenia (SCZ) in Han Chinese. This study examined this SNP's associations with cognitive functions in 580 SCZ patients and 498 controls. Cognitive functions were assessed using the Wechsler Adult Intelligence Scale-Revised (WAIS-RC), the Attention Network Task (ANT), the Stroop task, the dot pattern expectancy (DPX), task and the N-back working memory task. Results showed significant or marginally significant interaction effects between genotype and diagnosis status on IQ (P ¼ 0.011) and attention-related tasks (ie, the forward digit span of WAIS-RC, P ¼ 0.005; the ANT conflict effect; P ¼ 0.020, and its ratios over mean reaction time (RT), P ¼ 0.036; the Stroop conflict effect, P ¼ 0.032, and its ratios over mean RT, P ¼ 0.062; and the DPX task's error rate under the BX condition, Po0.001, and the error rate of BX minus the error rate of AY (BX À AY), P ¼ 0.002). There were no such interaction effects on the measures of working memory (all P-values 40.05). Further analysis of the significant genotype-by-diagnosis interactions showed that the risk (T) allele was associated with better performance on cognitive tasks in patients but with worse performance in controls. These results seem to indicate that the association between this SNP and selected cognitive functions may be of an inverted U-shaped pattern. Future research is needed to replicate these results and to explore the biochemical mechanisms behind this association.

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Section: Resultssupporting

confidence: 91%

Section: Introductionmentioning

confidence: 57%

Section: Introductionmentioning

confidence: 96%

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Associations between TCF4 Gene Polymorphism and Cognitive Functions in Schizophrenia Patients and Healthy Controls

Zhu

Liu

et al. 2012

Neuropsychopharmacol

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“…49 Mutations in TCF4 have been shown to cause PittHopkins syndrome (PTHS) and three rare TCF4 SNPs are associated with schizophrenia. 17,[49][50][51] PTHS is characterised by severe intellectual disability, absent or severely impaired speech, characteristic facial features and epilepsy. 52 Many of these features are shared with patients carrying CNTNAP2 mutations, leading researchers to test patients with PTHS-like features for CNTNAP2 mutations.…”

Section: Regulation Of Cntnap2 Expressionmentioning

confidence: 99%

Shining a light on CNTNAP2: complex functions to complex disorders

2013

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The genetic basis of complex neurological disorders involving language are poorly understood, partly due to the multiple additive genetic risk factors that are thought to be responsible. Furthermore, these conditions are often syndromic in that they have a range of endophenotypes that may be associated with the disorder and that may be present in different combinations in patients. However, the emergence of individual genes implicated across multiple disorders has suggested that they might share similar underlying genetic mechanisms. The CNTNAP2 gene is an excellent example of this, as it has recently been implicated in a broad range of phenotypes including autism spectrum disorder (ASD), schizophrenia, intellectual disability, dyslexia and language impairment. This review considers the evidence implicating CNTNAP2 in these conditions, the genetic risk factors and mutations that have been identified in patient and population studies and how these relate to patient phenotypes. The role of CNTNAP2 is examined in the context of larger neurogenetic networks during development and disorder, given what is known regarding the regulation and function of this gene. Understanding the role of CNTNAP2 in diverse neurological disorders will further our understanding of how combinations of individual genetic risk factors can contribute to complex conditions.

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“…17 These promising candidates include DISC1, [18][19][20] NRG1, [21][22][23] ZNF804A, 16,24,25 TCF4, 8,15,26 MIR137 6 and genes from the MHC region. 14,15 Though significant progress has been made in the genetic dissection of schizophrenia, [6][7][8][9][10][11][12][13][14][15][16]26 the pathophysiology of schizophrenia is still largely unknown. Alterations in gene expression may have a pivotal role in the pathogenesis of schizophrenia.…”

Section: Introductionmentioning

confidence: 99%

Convergent lines of evidence support CAMKK2 as a schizophrenia susceptibility gene

Luo

Huang

et al. 2013

Mol Psychiatry

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Common Variants in Major Histocompatibility Complex Region and TCF4 Gene Are Significantly Associated with Schizophrenia in Han Chinese

Cited by 72 publications

References 8 publications

Associations between TCF4 Gene Polymorphism and Cognitive Functions in Schizophrenia Patients and Healthy Controls

Associations between TCF4 Gene Polymorphism and Cognitive Functions in Schizophrenia Patients and Healthy Controls

Shining a light on CNTNAP2: complex functions to complex disorders

Convergent lines of evidence support CAMKK2 as a schizophrenia susceptibility gene

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