Table 3.
Genes with significant association between genetically predicted gene expression and MD phenotypes (DA, NDA, PMD), based on transcriptome-wide association study (TWAS)1
MD phenotype | Gene | CHR | Gene start position2 | Gene end position2 | Gene expression heritability | TWAS Z score |
TWAS p value |
---|---|---|---|---|---|---|---|
DA | MTMR11 | 1 | 149,928,651 | 149,936,867 | 0.117 | 6.556 | 5.53 E−11 |
DA | EP300 | 22 | 41,091,786 | 41,180,079 | 0.059 | 5.074 | 3.89 E−07 |
DA | MRPL23-AS1 | 11 | 1,983,237 | 1,989,920 | 0.158 | − 5.057 | 4.26 E−07 |
DA | SMIM25 | 20 | 50,267,486 | 50,279,795 | 0.198 | − 4.893 | 9.92 E−07 |
DA | TMEM184B | 22 | 38,219,291 | 38,273,034 | 0.112 | 4.864 | 1.15 E−06 |
DA | DESI1 | 22 | 41,598,028 | 41,621,096 | 0.139 | 4.779 | 1.76 E−06 |
NDA | SHOX2 | 3 | 158,096,011 | 158,106,503 | 0.155 | 5.027 | 4.98 E−07 |
PMD | MTMR11 | 1 | 149,928,651 | 149,936,867 | 0.117 | 5.517 | 3.45 E−08 |
PMD | CRISPLD2 | 16 | 84,819,984 | 84,920,768 | 0.177 | − 4.832 | 1.35 E−06 |
1Statistical significance was defined as p < 0.05/(7,284*3) = 2.29 × 10−6
2Genomic positions based on build GRCh37/hg19