Table 2.
Variants in NAFLD/NASH-associated genes and regulation of gene expression in immune related loci
| Tissue | Gene expression | Sample size | P-value |
|---|---|---|---|
| SNP ID: rs738409 hg19_coordinates: chr22:44324727 (PNPLA3) | |||
| Adipose subcutaneous | SAMM50 | 385 | 9.60E-07 |
| Whole blood | SAMM50 | 5,257 | 5.67E-106 |
| Whole blood | SAMM50 | 31,300 | 3.15E-18 |
| Whole blood | FAM89B | 31,300 | 5.49E-06 |
| SNP ID: rs58542926 hg19_coordinates: chr19:19379549 (TM6SF2) | |||
| Whole blood | CXCL9 | 5,257 | 3.13E-06 |
| Whole blood | CXCL16 | 28,533 | 5.71E-06 |
| SNP ID: rs641738 hg19_coordinates: chr19:54676763 (TMC4/MBOAT7) | |||
| Whole blood | LILRP1 | 5,417 | 8.87E-06 |
Variant: rs738409, gene: PNPLA3. Variant: rs58542926, gene: TM6SF2. Variant: rs72613567, gene: HSD17B13. Variant: rs641738, gene: MBOAT4/TMC4.
SNP, single nucleotide polymorphism; PNPLA3, patatin-like phospholipase domain containing 3; TM6SF2, transmembrane 6 superfamily member 2; MBOAT7, membrane bound O-acyltransferase domain containing 7; TMC4, transmembrane channel-like 4; NAFLD, nonalcoholic fatty liver disease; NASH, non-alcoholic steatohepatitis.
Information was retrieved from http://www.phenoscanner.medschl.cam.ac.uk/, a curated database holding publicly available results from large-scale genome-wide association studies. [45,46]