Abstract
Background: Schizophrenia (SZ) is a severe chronic mental disorder with complex genetic mechanisms. Brain-derived neurotrophic factor (BDNF) is one of promising candidate genes for SZ, and rs6265 is a non-synonymous single nucleotide polymorphism (SNP) in BDNF.Methods: In this study, we performed a case-control association study of rs6265 in a cohort of Han Chinese population from eastern China, including 1,407 SZ patients and 1,136 healthy controls; and carried out a cis-mQTL (Methylation Quantitative Trait Loci) analysis for BDNF rs6265.Results: We found a positive association of rs6265 with SZ (P = 0.037), with the minor allele (A) of rs6265 conferring a protecting effect for SZ (OR = 0.89). Furthermore, cis-mQTL analysis indicates that rs6265 is associated with several methylation loci surrounding BDNF.Conclusions: Together, our findings provide further evidence to support the involvement of BDNF gene in the genesis of SZ.
Highlights
Schizophrenia (SZ) is a serious mental disorder featured with profound disruption in emotion and cognition, affecting the most basic human properties such as language, thought, perception, and so on
In both the patient and the control groups, genotypic distributions of rs6265 had not deviated from Hardy-Weinberg equilibrium (HWE) (P > 0.05)
Allelic distribution of rs6265 was associated with SZ (P = 0.037), with the minor allele (A) of rs6265 conferring a protecting effect for SZ (OR = 0.89)
Summary
Schizophrenia (SZ) is a serious mental disorder featured with profound disruption in emotion and cognition, affecting the most basic human properties such as language, thought, perception, and so on. Brain-derived neurotrophic factor (BDNF) is believed to be involved in the pathophysiology of SZ and has been widely studied as a marker of neuropsychiatric diseases [2]. The expression or functional changes of BDNF are proven associates of the pathophysiological process of several brain diseases, including mental diseases and neuro degenerative diseases [3]. Most of the homozygous BDNF mutant mice die within 2 days of birth, with some surviving 2 to 4 weeks. They exhibit distinct behavioral phenotypes as well as lack motor coordination and balance. Brain-derived neurotrophic factor (BDNF) is one of promising candidate genes for SZ, and rs6265 is a non-synonymous single nucleotide polymorphism (SNP) in BDNF
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