Human Genetics

, Volume 131, Issue 7, pp 1081–1087 | Cite as

Effects of MAOA promoter methylation on susceptibility to paranoid schizophrenia

  • Yanbo Chen
  • Jiexu Zhang
  • Li Zhang
  • Yan Shen
  • Qi XuEmail author
Original Investigation


This study was undertaken to analyze DNA methylation profiling at the monoamine oxidase A (MAOA) locus, in order to determine whether abnormal DNA methylation is involved in the development of schizophrenia. We recruited a total of 371 patients with paranoid schizophrenia (199 males and 172 females) and 288 unrelated control subjects (123 males and 165 females) for analysis of DNA methylation. Diagnosis was made based on the Structured Clinical Interview for DSM-VI. Genomic DNA extracted from peripheral blood was chemically modified using bisulfite, and DNA methylation profiles of the MAOA promoter were determined by BSP-sequencing. DNA methylation ratios of individual CpG residues and overall methylation ratios were measured on each subject. The results showed that there was no significant difference in overall DNA methylation ratios between patients and controls either in the female group (P = 0.42) or in the male group (P = 0.24). Of 15 CpG residues that showed significant differences in DNA methylation status between the patient group and the control group in females, eight of which had an increased level and seven, a decreased level, with a combined P value of 1 (df = 160). In male subjects, however, six individual CpG residues showed an increased methylation level with a combined P value of 5.80E−35 (df = 158). In conclusion, abnormalities of DNA methylation at the MAOA promoter may be associated with schizophrenia in males.


Schizophrenia Methylation Level Attention Deficit Hyperactivity Disorder Rett Syndrome Paranoid Schizophrenia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Monoamine oxidase A


Major depressive disorder


Attention deficit hyperactivity disorder


Single nucleotide polymorphism


Quantification tool for methylation analysis



This work was supported by the research grants from the National Basic Research Program of China (2010CB529603, 2012CB517902), the National Natural Science Foundation of China (30971001, 31021091), the Beijing Natural Science Foundation (7102109) and the Fok Ying Tong Education Foundation (121024).

Conflict of interest

None declared.

Supplementary material

439_2011_1131_MOESM1_ESM.doc (242 kb)
Supplementary material 1 (DOC 242 kb)
439_2011_1131_MOESM2_ESM.bmp (914 kb)
Supplementary Figure 1. Detailed positions of two CpG islands and BS-PCR primers in the MAOA genepromoter and exon 1.The primer-annealing sites are depicted by red squares and solid green lines indicate the amplified regions.The exon 1 region is indicated in purple. The VNTR region is represented by light orange (BMP 913 kb)


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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Yanbo Chen
    • 1
  • Jiexu Zhang
    • 1
  • Li Zhang
    • 2
  • Yan Shen
    • 1
  • Qi Xu
    • 1
    Email author
  1. 1.National Lab of Medical Molecular BiologyInstitute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingP. R. China
  2. 2.Health Human Resources Development Center, MOHBeijingChina

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