Table 4 CNV region associated with NAFLD
Region | Gene | Sample frequency (gains, losses) | Function | GO item | Relevant study ( DOI) |
|---|---|---|---|---|---|
Chr3:57199594-57590187 | APPL1 | 1 (0, 1) | Adiponectin, insulin signalling | GO:0008286 | 10.1371/journal.pone.0071391 |
Chr7:54813380-55274871 | EGFR | 1 (0, 1) | Tyrosine phosphorylation regulates cell proliferation | GO:0000165 | 10.3969/j.issn.1674-4136.2017.05.016; 10.1016/j.bbadis.2017.10.016 |
Chr17:38688567-38738474 | CCR7 | 2 (0, 2) | Participates inflammatory response | GO:0007249 | 10.1038/ijo.2017.200; 10.3870/j.issn.1672-0741.2017.06.011 |
Chr19:56370486-56416408 | NLRP4 | 3 (0, 3) | Inhibition of type I interferon and NF-KB inflammatory signalling | GO:0032479 | 10.1186/s12876-014-0208-8; 10.1074/jbc.M200446200 |
Chr22:24347959-24390254 | GSTT1 | 7 (6, 1) | Participates in the phase II reaction and promote toxic metabolism | GO:0004602 | 10.1016/j.clinre.2011.01.015 |
Chr14:74001651-74022324 | ACOT1 | 2 (1, 1) | Regulation of lipid metabolism enzyme activity | GO:0071616 | 10.2337/db16-1519; 10.1194/jlr.M081455 |
Chr12:57897795-57918452 | CHOP | 1 (1, 0) | Participates in endoplasmic reticulum stress and promote apoptosis | GO:0036488 | 10.1038/labinvest.2016.61; 10.1016/j.ejps.2011.02.005 |
Chr1:65935075-65959904 | LEPR | 1 (0, 1) | Regulates leptin signalling | GO:0038021 | 10.2174/1566524018666180705110412; 10.3870/lcxh.j.issn.1005-541X.2011.03.07 |
Chr20:33470663-33495348 | ACSS2 | 1 (0, 1) | Regulation of lipid metabolism enzyme activity | GO:0006085 | 10.1073/pnas.1806635115; 10.1002/jcp.25954 |