Psychiatry Investig.  2019 Jun;16(6):450-458. 10.30773/pi.2019.04.12.

Investigation of Maternal Effects, Maternal-Fetal Interactions, and Parent-of-Origin Effects (Imprinting) for Candidate Genes Positioned on Chromosome 18q21, in Probands with Schizophrenia and their First-Degree Relatives

Affiliations
  • 1Department of Psychiatry, Pusan National University Hospital, Busan, Republic of Korea. bdlee@pusan.ac.kr
  • 2Biomedical Research Institute, Pusan National University Hospital, Busan, Republic of Korea.
  • 3Department of Psychiatry, Pusan National University College of Medicine, Busan, Republic of Korea.
  • 4Department of Obstetrics and Gynecology, Pusan National University Hospital, Busan, Republic of Korea.

Abstract


OBJECTIVE
A popular design for the investigation of such effects, including effects of parent-of-origin (imprinting), maternal genotype, and maternal-fetal genotype interactions, is to collect deoxyribonucleic acid (DNA) from affected offspring and their mothers and to compare with an appropriate control sample. We investigate the effects of estimation of maternal, imprinting and interaction effects using multimodal modeling using parents and their offspring with schizophrenia in Korean population.
METHODS
We have recruited 27 probands (with schizophrenia) with their parents and siblings whenever possible. We analyzed 20 SNPs of 7 neuronal genes in chromosome 18. We used EMIM analysis program for the estimation of maternal, imprinting and interaction effects using multimodal modeling.
RESULTS
Of analyzed 20 single nucleotide polymorphisms (SNPs), significant SNP (rs 2276186) was suggested in EMIM analysis for child genetics effects (p=0.0225438044) and child genetic effects allowing for maternal genetic effects (p=0.0209453210) with very stringent multiple comparison Bonferroni correction.
CONCLUSION
Our results are the pilot study for epigenetic study in mental disorder and help to understanding and use of EMIM statistical genetics analysis program with many limitations including small pedigree numbers.

Keyword

Epigenetic; Log-linear model; Case/parent trio; Schizophrenia

MeSH Terms

Child
Chromosomes, Human, Pair 18
DNA
Epigenomics
Genetics
Genotype
Humans
Linear Models
Mental Disorders
Mothers
Neurons
Parents
Pedigree
Pilot Projects
Polymorphism, Single Nucleotide
Schizophrenia*
Siblings
DNA
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