Schizophrenia-Risk Variants Influence KTN1 Expression

We examined the potential regulatory effects of schizophrenia-risk variants identified above on the KTN1 mRNA expression in human postmortem brains in a UK European cohort (n = 138) (i.e., BRAINEAC dataset)^{79 (link)} and in a European-American cohort (n = 210) (i.e., GTEx dataset)⁸⁰ using cis-eQTL analysis. These subjects were free of neurodegenerative and neuropsychiatric disorders. In the UK European cohort, a total of 10 brain regions were analyzed, including cerebellar, prefrontal, occipital, and temporal cortices, hippocampus, medulla, putamen, substantia nigra, thalamus, and intralobular white matter. In the European-American cohort, a total of 11 brain regions were analyzed, including BG (putamen, caudate nucleus, nucleus accumbens, and substantia nigra), limbic system [anterior cingulate gyrus (BA24), amygdala, hippocampus, and hypothalamus], prefrontal cortex (BA9), and cerebellum. Normalized mRNA expression levels were compared between different alleles of each variant using t-test. Multiple comparisons in each brain region were corrected by FDR.

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Mao Q., Lin X., Yin Q., Liu P., Zhang Y., Qu S., Xu J., Cheng W., Luo X., Kang L., Taximaimaiti R., Zheng C., Zhang H., Wang X., Ren H., Cao Y., Lin J, & Luo X. (2023). A significant, functional and replicable risk KTN1 variant block for schizophrenia. Scientific Reports, 13, 3890.

Publication 2023

Alleles Amygdala Anterior cingulate gyrus Ba24 Brain Caudate nucleus Cerebellum European Hippocampus Human Hypothalamus Ktn1 Limbic system Medulla Mrna Nucleus accumbens Postmortem Prefrontal cortex Putamen Schizophrenia Substantia nigra Temporal cortices Thalamus White matter

Corresponding Organization : Peking University

Other organizations : Deyang Stomatological Hospital, Fujian Medical University, Fujian Provincial Cancer Hospital, Integrated Chinese Medicine (China), Tianjin Anding Hospital, Weihai Maternal and Child Health Hospital, Shanghai Mental Health Center, Shanghai Jiao Tong University, First Affiliated Hospital of Fujian Medical University, Xizang Minzu University, Tongren Hospital, Huazhong University of Science and Technology

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Variable analysis

independent variables

Schizophrenia-risk variants

dependent variables

KTN1 mRNA expression

control variables

Brain regions (cerebellar, prefrontal, occipital, and temporal cortices, hippocampus, medulla, putamen, substantia nigra, thalamus, and intralobular white matter in the UK European cohort; BG, limbic system, prefrontal cortex, and cerebellum in the European-American cohort)
Subjects free of neurodegenerative and neuropsychiatric disorders

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