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rs10204933
0.2
0.4
0.6
0.8
r2
SLC19A3CCL20
DAW1
SPHKAP
228.6
228.8
229
229.2
229.4
Position on chr2 (Mb)
P=4.1x10
-10
(A)
(B)
(C)
0
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4
6
8
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rs12928842
0.2
0.4
0.6
0.8
r2
HSBP1 MLYCD OSGIN1
NECAB2
SLC38A8
MBTPS1
HSDL1
DNAAF1
TAF1C
ADAD2
KCNG4
83.9
84
84.1
84.2
Position on chr16 (Mb)
P=5.7x10
-10
rs11644047 P=4.4x10
-6
0
2
4
6
8
10
-l
og
10
(p
−v
alue)
0
20
40
60
80
100
Recombination r
ate (cM/Mb)
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rs78885399
0.2
0.4
0.6
0.8
r2
COX6A1
TRIAP1
GATC
SRSF9
DYNLL1
DYNLL1−AS1
COQ5
RNF10
POP5 CABP1
MLEC
UNC119B
MIR4700
ACADS
SPPL3
120.9
121
121.1
121.2
121.3
Position on chr12 (Mb)
P=6.0x10
-7
P=9.8x10
-9
P=3.4x10
-7
１）
日本人サンプルのみを用いた結果
本サンプルすべてを用いた解析（全ゲノム関連解析と追試解析を合わせた結果）では、３ 領 域 に 有 意
な 関 連 を 同 定 し ま し た（ 図 １ 、２ ）。本領域との関連は、既報にないものであり、新 規 の 統 合 失 調 症
の リ ス ク 遺 伝 子 として同定されました。
これら領域に位置する遺伝子の機能は、細胞機能や神経伝達物質と関連するものではありますが、現状
のところ、統合失調症への直接的な機能的意義は証明されていません。従って、今後、統合失調症との
関連という側面を考慮しながら機能解析を行っていく必要があります。
図１ 統合失調症 GWAS の結果（日本人サンプルのみ）
マンハッタンプロットと呼びます。横軸に遺伝子多型を染色体順に、縦軸に関連性の指標を示す P 値の-log10 をプロッ
トしています。関連性が高い相互作用は摩天楼のように高い場所にプロットされます。多くの SNP を解析する本研究のよ
うな解析では、全体を俯瞰するために有用であり、よく用いられる表示法です。有意といえる P 値の閾値は、5x10
-8
以下
を設定しており、赤い線より上になれば有意であると言えます。３領域の SNP（詳細は図２）が有意となっています。
図 ２
有意な領域近傍の SNP との関連性の詳細
有意となった相互作用の詳細を示しています。プロットは、図 1 と同様の形式で示しています。
（A）
SPHKAP、（B）SLC38A8、(C)CABP1-ACADS 領域
SPHKAP
Chromosome
8
6
4
2
0
-lo
g
10
(P
)
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15 16
17 18
19
20
21
22
CABP1
-ACADS
SLC38A8
