Table 1. Effect of rs1990622 as a TMEM106B expression quantitative trait locus (eQTL) or protein quantitative trait locus (pQTL).
All effect sizes are reported for the tested A allele with the G allele set as reference at rs1990622. Parameter estimates are those reported by respective studies and may be on different scales given different normalization procedures for transcriptomic and proteomic data.
| Dataset | Tissue | Sample size | Effect size | p-value |
|---|---|---|---|---|
| Expression (e)QTL | ||||
| eQTLGen | Blood | 31,427 | - * | 0.0174 |
| GTEx | Blood | 670 | −0.25 | 4.00E-30 |
| Metabrain EA | Brain (cortex) | 6,601 | +0.0268 | 0.3115 |
| Metabrain AA | Brain (cortex) | 1,016 | +0.2053 | 0.0031 |
| Protein (p)QTL | ||||
| deCODE | Plasma | 35,371 | +0.1106 | 3.69E-43 |
| ARIC EA | Plasma | 7,213 | +0.2547 | 7.33E-53 |
| ARIC AA | Plasma | 1,871 | +0.3147 | 1.50E-19 |
| Wingo | Brain (cortex) | 722 | +0.0773 | 0.1005 |
*
Negative Z-value indicating that A allele is associated with decreased TMEM106B expression. Abbreviations: EA: European Ancestry, AA: African Ancestry.