Research Article

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.

GeneSNPEffect alleleP valueEffect size (β)TissuesSample sizeDataset

DDTrs755622C1.47E-020.1282Brain intralobular white matter134Braineac
DDTrs755622C3.97E-020.1013Brain hippocampus134Braineac
DDTrs755622C1.66E-01-0.0874Brain cerebellar cortex134Braineac
DDTrs755622C5.84E-010.0284Brain frontal cortex134Braineac
DDTrs755622C3.61E-01-0.0436Brain medulla134Braineac
DDTrs755622C4.27E-01-0.0432Brain occipital cortex134Braineac
DDTrs755622C9.63E-01-0.0027Brain putamen134Braineac
DDTrs755622C2.09E-01-0.0630Brain substantia nigra134Braineac
DDTrs755622C6.74E-010.0219Brain temporal cortex134Braineac
DDTrs755622C3.87E-01-0.0462Brain thalamus134Braineac
DDTrs755622C5.09E-01-0.0743Brain amygdala88GTEx
DDTrs755622C3.28E-01-0.1050Brain anterior cingulate cortex109GTEx
DDTrs755622C8.55E-020.1732Brain caudate144GTEx
DDTrs755622C3.16E-010.1241Brain cortex136GTEx
DDTrs755622C1.61E-010.1353Brain frontal cortex118GTEx
DDTrs755622C7.21E-01-0.0383Brain hippocampus111GTEx
DDTrs755622C2.84E-010.1136Brain nucleus accumbens130GTEx
DDTrs755622C7.33E-01-0.0417Brain putamen111GTEx
DDTrs755622C1.24E-010.2706Brain spinal cord83GTEx
DDTrs755622C7.01E-01-0.0553Brain substantia nigra80GTEx
DDTrs755622C1.21E-040.5072Brain cerebellum154GTEx
DDTrs755622C1.21E-030.3480Brain cerebellar hemisphere125GTEx
DDTrs755622C2.91E-020.2388Brain hypothalamus108GTEx
DDTrs755622C4.62E-060.2260Blood369GTEx
DDTrs755622C3.70E-350.4214Blood2,765CAGE
DDTrs755622C4.31E-28> 0 (z =10.989)Blood2,116BIOS QTL Browser
DDTrs755622C5.21E-160.0427Blood5,257FHS_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.