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Table 3 Identification of key MMD-associated target genes

From: Immune response profiling identifies autoantibodies specific to Moyamoya patients

Proteins

Enriched p value

Function

ProtoArray p value

DER *

Chromosomal location

APP

< 0.02

Increased risk of hemorrhagic stroke, Alzheimer disease pathogenesis, DDR [40–42]

0.029

0.604

21q21.3

CTNNB1

0.01

Regulation of neural progenitor cell cycle, Wnt signaling in carcinoma/angiogenesis, chromosome instability [43–45]

0.0197

0.555

3p21

EDIL3

0.01

Role in angiogenesis and vessel wall remodeling and development [46, 47]

0.0003

0.484

5q14

ROR1

0.01

Possible role in cell migration and remodeling of cytoskeleton [48]

0.0029

0.586

1p32-p31

GPS1

0.02

Component of the COP9 signalosome, DDR [49]

0.07

0.46

17q25.3

STRA13

0.01

Component of the FA protein complex, DDR, component of the kinetocore [50–52]

0.0021

0.581

17q25.3

  1. MMD-specific target proteins were identified through functional interpolating SNPs approach (fitSNPs), a bioinformatics method that integrates antibodyomic, genetic, and genomic data.
  2. * DER = fitSNP differential expression ratio.