Identification of Schizophrenia Susceptibility Loci in the Urban Taiwanese Population

Author:

Huang Chih-Chung1ORCID,Wang Yi-Guang1ORCID,Hsu Chun-Lun2ORCID,Yeh Ta-Chuan1ORCID,Chang Wei-Chou3,Singh Ajeet B.4,Yeh Chin-Bin1ORCID,Hung Yi-Jen5,Hung Kuo-Sheng6ORCID,Chang Hsin-An1ORCID

Affiliation:

1. Department of Psychiatry, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan

2. Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei 114, Taiwan

3. Department of Radiology, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan

4. IMPACT, The Institute for Mental and Physical Health and Clinical Translation, School of Medicine, Barwon Health, Deakin University, Geelong, VIC 3220, Australia

5. Division of Endocrinology and Metabolism, Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan

6. Center for Precision Medicine and Genomics, Tri-Service General Hospital, School of Medicine, National Defense Medical Center, Taipei 114, Taiwan

Abstract

Background and Objectives: Genomic studies have identified several SNP loci associated with schizophrenia in East Asian populations. Environmental factors, particularly urbanization, play a significant role in schizophrenia development. This study aimed to identify schizophrenia susceptibility loci and characterize their biological functions and molecular pathways in Taiwanese urban Han individuals. Materials and Methods: Participants with schizophrenia were recruited from the Taiwan Precision Medicine Initiative at Tri-Service General Hospital. Genotype–phenotype association analysis was performed, with significant variants annotated and analyzed for functional relevance. Results: A total of 137 schizophrenia patients and 26,129 controls were enrolled. Ten significant variants (p < 1 × 10−5) and 15 expressed genes were identified, including rs1010840 (SOWAHC and RGPD6), rs11083963 (TRPM4), rs11619878 (LINC00355 and LINC01052), rs117010638 (AGBL1 and MIR548AP), rs1170702 (LINC01680 and LINC01720), rs12028521 (KAZN and PRDM2), rs12859097 (DMD), rs1556812 (ATP11A), rs78144262 (LINC00977), and rs9997349 (ENPEP). These variants and associated genes are involved in immune response, blood pressure regulation, muscle function, and the cytoskeleton. Conclusions: Identified variants and associated genes suggest a potential genetic predisposition to schizophrenia in the Taiwanese urban Han population, highlighting the importance of potential comorbidities, considering population-specific genetic and environmental interactions.

Funder

Advanced National Defense Technology & Research Program, National Science and Technology Council of Taiwanese Government

Academia Sinica

Tri-Service General Hospital

Publisher

MDPI AG

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