Table 6.
Variants with high scores in the logistic regression models with LBW and, however, are associated with a low number of enrichment terms in Table 4
| CHROM | POS | ID | GENE | SYMBOL | A1 | DESCRIPTION | ASSOCIATION | Reference | OBSERVATIONS |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 219527177 | rs2785980 | ENSP00000355895 | LYPLAL1 | C | Lys phospholipase-like protein 1 | Phenotypes: adiponectin measurement, fasting blood insulin, waist-hip ratio. | Spracklen et al.45, Wheeler et al.46 and Heid et al.47 | |
| 12 | 121022883 | rs7957197 | ENSG00000135114 | OASL | A | 2′-5′-oligoadenylate synthetase like. Belongs to the 2-5A synthase family. |
Biological process: immune system process, response to virus. Phenotypes: C-reactive protein levels, cardiovascular disease risk factors, hematocrit, hemoglobin, inborn genetic diseases, N-glycan levels, inflammation. |
Ding et al.19 | Variant rs7957197 has been mentioned in various publications in relation to T2D, usually mapped to the HNF1A gene, which is more than 20knt away from the position of the variant in the base-pair coordinate GRCh.38 |
| 15 | 62141763 | rs11071657 | ENSG00000205502 | C2CD4B | G | C2 calcium dependent domain containing 4B. Belongs to the C2CD4 family and may regulate cell architecture and adhesion. |
Biological process: regulation of cell adhesion. Phenotypes: fasting blood glucose, fasting blood proinsulin levels, pulse pressure, L-selectin levels, height, inborn genetic diseases. |
Dupuis et al.48 and Jung et al.49 | |
| 17 | 9888058 | rs17676067 | ENSG00000065325 | GLP2R | C | Glucagon Like Peptide 2 Receptor. Is a receptor for glucagon-like peptide 2 mediated by G proteins that activate adenylyl cyclase. |
Biological process: positive regulation of cell population proliferation, and cellular response to glucagon, adenylate cyclase-modulating G protein-coupled receptor signaling pathway. Phenotypes: stimulus glucose-dependent insulinotropic polypeptide (GIP) levels in response to oral glucose tolerance test (fasting), type 2 diabetes, GDM, inborn genetic diseases. |
Ramos-Levi et al.30 and Scott et al.50 | |
| 20 | 62967547 | rs3746750 | ENSG00000101194 | SLC17A9 | A | Solute carrier family 17 member 9. Involved in vesicular storage and exocytosis of ATP and may accumulate ATP and other nucleotides in secretory vesicles such as adrenal chromaffin granules and synaptic vesicles. |
Biological process: ATP and ADP transport. Phenotypes: disseminated superficial actinic porokeratosis, inborn genetic diseases, GDM. |
Ramos-Levi et al.30 |
CHROM, Chromosome code; POS, Base-pair coordinate [GRCh38]; ID, Variant ID; A1, Counted allele in logistic regression.