Genetic Variant rs755622 Regulates Expression of the Multiple Sclerosis Severity Modifier D-Dopachrome Tautomerase in a Sex-Specific Way
Table 1
Polymorphism rs755622 C allele upregulates DDT expression in brain and blood for subjects without MS diagnosis.
Gene
SNP
Effect allele
P value
Effect size (β)
Tissues
Sample size
Dataset
DDT
rs755622
C
1.47E-02
0.1282
Brain intralobular white matter
134
Braineac
DDT
rs755622
C
3.97E-02
0.1013
Brain hippocampus
134
Braineac
DDT
rs755622
C
1.66E-01
-0.0874
Brain cerebellar cortex
134
Braineac
DDT
rs755622
C
5.84E-01
0.0284
Brain frontal cortex
134
Braineac
DDT
rs755622
C
3.61E-01
-0.0436
Brain medulla
134
Braineac
DDT
rs755622
C
4.27E-01
-0.0432
Brain occipital cortex
134
Braineac
DDT
rs755622
C
9.63E-01
-0.0027
Brain putamen
134
Braineac
DDT
rs755622
C
2.09E-01
-0.0630
Brain substantia nigra
134
Braineac
DDT
rs755622
C
6.74E-01
0.0219
Brain temporal cortex
134
Braineac
DDT
rs755622
C
3.87E-01
-0.0462
Brain thalamus
134
Braineac
DDT
rs755622
C
5.09E-01
-0.0743
Brain amygdala
88
GTEx
DDT
rs755622
C
3.28E-01
-0.1050
Brain anterior cingulate cortex
109
GTEx
DDT
rs755622
C
8.55E-02
0.1732
Brain caudate
144
GTEx
DDT
rs755622
C
3.16E-01
0.1241
Brain cortex
136
GTEx
DDT
rs755622
C
1.61E-01
0.1353
Brain frontal cortex
118
GTEx
DDT
rs755622
C
7.21E-01
-0.0383
Brain hippocampus
111
GTEx
DDT
rs755622
C
2.84E-01
0.1136
Brain nucleus accumbens
130
GTEx
DDT
rs755622
C
7.33E-01
-0.0417
Brain putamen
111
GTEx
DDT
rs755622
C
1.24E-01
0.2706
Brain spinal cord
83
GTEx
DDT
rs755622
C
7.01E-01
-0.0553
Brain substantia nigra
80
GTEx
DDT
rs755622
C
1.21E-04
0.5072
Brain cerebellum
154
GTEx
DDT
rs755622
C
1.21E-03
0.3480
Brain cerebellar hemisphere
125
GTEx
DDT
rs755622
C
2.91E-02
0.2388
Brain hypothalamus
108
GTEx
DDT
rs755622
C
4.62E-06
0.2260
Blood
369
GTEx
DDT
rs755622
C
3.70E-35
0.4214
Blood
2,765
CAGE
DDT
rs755622
C
4.31E-28
> 0 (z =10.989)
Blood
2,116
BIOS QTL Browser
DDT
rs755622
C
5.21E-16
0.0427
Blood
5,257
FHS_eQTL
The rs755622 position (hg19), 22_24236392_G_C_b37 (G > C); the threshold of significant association is 0.05; and means that this effect allele upregulates and downregulates gene expression, respectively; ; the asterisk () means a significant association.