Related Experiment Video
Updated: Aug 15, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Linkage disequilibrium in aquaporin 4 gene and association study with schizophrenia
Tatsuyuki Muratake1, Naoki Fukui, Naoshi Kaneko
1Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. mura@med.niigata-u.ac.jp
Abstract:
Aquaporin 4 (AQP4) has an important role in water homeostasis of human brain and a dysfunction of AQP4 could induce pathological conditions in neuronal activity. Several genome scan studies for schizophrenia found a suggestive linkage on 18q, where human AQP4 (18q11.2-12.1) is located nearby. A case-control study was performed which comprised 261 schizophrenia subjects and 278 controls from the Japanese population with four SNP markers. We found strong linkage disequilibrium (LD) and an LD block in the AQP4 gene but found no association between AQP4 and schizophrenia, both single SNP and haplotype analyses. The present study shows that AQP4 is not directly associated with schizophrenia in these Japanese patients.
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Biological Causes of Schizophrenia
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin studies.
Single Nucleotide Polymorphisms-SNPs
Sex Linked Disorders
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Alzheimer Disease l: Introduction
