Table 4.
Summary of top variants in the APOC1 gene cluster exhibiting genome-wide significance for the TyG index, a marker of insulin resistance, identified within the Taiwan Biobank cohort
| GENE | CHR | Interval (b38) | Top SNP | Pos (b38) | Top P | Novel | TWAS | GWAS catalog |
|---|---|---|---|---|---|---|---|---|
| NECTIN2 | 19 | 44846297..44889223 | rs283811 | 44,885,243 | 1.6E-94 | yes | 4 | TG, HDL-C, T2D, AD, BMI |
| TOMM40 | 19 | 44891254..44903689 | rs157582 | 44,892,962 | 7.5E-94 | yes | NA | TG, HDL-C, AD, BMI |
| APOE | 19 | 44905796..44909393 | rs440446 | 44,905,910 | 1.7E-106 | yes | 1 | TG, HDL-C, T2D, AD, BMI |
| APOC1 | 19 | 44914325..44919346 | rs5117 | 44,915,533 | 2.8E-111 | no | 8 | TG, HDL-C, AD, BMI, TG:HDL-C |
| APOC1P1 | 19 | 44926803..44931386 | rs7259004 | 44,929,300 | 2.0E−59 | no | NA | TG, HDL-C, AD, BMI, TG:HDL-C |
| APOC2, APOC4-APOC2 | 19 | 44946051..44949565 | rs2288911 | 44,946,027 | 2.8E-10 | yes | 3, 10 | TG, HDL-C, AD |
| TAD | CHR | Interval (b38) | -- | -- | -- | -- | -- | -- |
| pancreas | 19 | 43760000..44560000 | -- | -- | -- | -- | -- | -- |
| pancreas | 19 | 45440000..47760000 | -- | -- | -- | -- | -- | -- |
| hippocampus | 19 | 43520000..44720000 | -- | -- | -- | -- | -- | -- |
| hippocampus | 19 | 45640000..47720000 | -- | -- | -- | -- | -- | -- |
| liver | 19 | 42080000..44560000 | -- | -- | -- | -- | -- | -- |
| liver | 19 | 45000000..47720000 | -- | -- | -- | -- | -- | -- |
Tissues in TWAS: 1 = Adipose Subcutaneous; 2 = Adipose Visceral Omentum; 3 = Adrenal Gland; 4 = Brain Cortex; 5 = Brain Hippocampus; 6 = Brain Hypothalamus; 7 = Liver; 8 = Muscle Skeletal; 9 = Pancreas; 10 = Pituitary; 11 = Thyroid. Previous GWASs reported in the NHGRI-EBI GWAS Catalog have identified various phenotypes that reach genome-wide significance (P < 5 × 10−8). Coordinates for TADs were retrieved from the following source (http://3dgenome.fsm.northwestern.edu/publications.html).
AD Alzheimer’s disease, b38 Genome Research Consortium human build 38, BMI body mass index, CHR chromosome, FG fasting glucose, HDL-C high-density lipoprotein cholesterol, IR insulin resistance, NA not available, Pos position, T2D type 2 diabetes, TAD topologically associating domains, TG triglycerides, TG:HDLC the triglyceride to high-density lipoprotein cholesterol ratio, TWAS transcriptome-wide association analysis.