Genetic Relationships Between Schizophrenia, Bipolar Disorder, and Schizoaffective Disorder

Alastair G. Cardno Michael J. Owen
3, May 2014



Nearest Gene 韓国人固有の変異数、非同義変異数
MIR137            27,0
VRK2               191,2
ZNF804A          129,1
PCGEM1           10,0
MHC                   0
MMP16                90,0
CSMD1                1786, 1、SNV-35が1、
LSM1                   24,0
CNNM2                51
NT5C2                   26,1
AMBRA1               73,1
NRGN                     2,0
CCDC68                18,1
TCF4                       147,0
ODZ4                       0
CACNA1C                302,1
NCAN                        17,0
ZNF804A                  129,1
ITIH3-ITIH4              13,0
ANK3                        229,2


ほとんどがダブっており、下記2つのみ
Nearest Gene
STT3A  13,0
SYNE1  170、6











Abstract

There is substantial evidence for partial overlap of genetic influences on schizophrenia and bipolar disorder, with family, twin, and adoption studies showing a genetic correlation between the disorders of around 0.6.

Schizoaffective disorder has been less investigated but shows substantial familial overlap with both schizophrenia and bipolar disorder. 

A twin analysis is consistent with genetic influences on schizoaffective episodes being entirely shared with genetic influences on schizophrenic and manic episodes, while association studies suggest the possibility of some relatively specific genetic influences on broadly defined schizoaffective disorder, bipolar subtype.

Table 2.

Genome-Wide Association Study Findings for Schizophrenia and Bipolar Disorder From the Review by Sullivan et al 70



PhenotypeChromosome Where Marker Is LocatedNearest GeneOR
Schizophrenia1MIR1371.12
2VRK21.09
2ZNF804A1.10
2PCGEM11.20
6MHC1.22
8MMP161.10
8CSMD11.11
8LSM11.19
10CNNM21.10
10NT5C21.15
11AMBRA11.25
11NRGN1.12
18CCDC681.09
18TCF41.20
Bipolar disorder11ODZ41.14
12CACNA1C1.14
19NCAN1.17
Schizophrenia and bipolar disorder combined2ZNF804A1.11
3ITIH3-ITIH41.12
10ANK31.22
12CACNA1C1.11

Table 3.

Disorder Specificity of Genome-Wide Association Study Findings for Schizophrenia and Bipolar Disorder in the Psychiatric Genomics Consortium Cross-Disorder Group Study of 5 Psychiatric Disorders (2013) 73



Phenotype in Original GWASChromosome Where Marker Is LocatedNearest GeneDisorders Showing Association
Schizophrenia1MIR137SZ, ASD
2PCGEM1SZ, ASD
6MHCSZ
8MMP16SZ
8CSMD1SZ
10CNNM2SZ, MDD
10NT5C2SZ, BPD, MDD, ASD, ADHD
11STT3ASZ
18CCDC68SZ, BPD, MDD
18TCF4SZ, ASD
Bipolar disorder6SYNE1BPD
10ANK3BPD
11ODZ4BPD
12CACNA1CBPD, SZ, MDD