Table 4. Examples of genetic variants in UTRs reported in GWAS Catalog and associated with quantitative parameters.
The table reports, from left to right: the UTR region where each variant is located, the associated quantitative trait, the gene where the variant is predicted to map, the associated polymorphism (SNP), the frequency of the tested allele, its statistical significance (p value), the impact of the associated variant on the trait, and the Pubmed ID of the paper where the result has been reported, as indicated in GWAS Catalog.
| UTR region | Quantitative trait | Mapped gene | SNP | Tested allele frequency | P-value | Effect of the tested allele | PubmedID |
|---|---|---|---|---|---|---|---|
| 5′UTR | HDL cholesterol levels | APOA5 | rs651821 | 0.72 | 9.E-47 | 0.19 | 28334899 |
| Complement C3 and C4 levels | GTF2H4 | rs1052693 | 0.36 | 3.E-48 | 0.10 | 23028341 | |
| Mean platelet volume | ODF3 | rs11604127 | 0.24 | 7.E-163 | 0.12 | 27863252 | |
| Acylcarnitine levels | SLC16A9 | rs1171614 | 0.20 | 2.E-81 | 0.10 | 26068415 | |
| Platelet count | ODF3 | rs11604127 | 0.24 | 4.E-103 | 0.09 | 27863252 | |
| Height | CNPY2 | rs3809128 | 0.21 | 7.E-35 | 0.08 | 25429064 | |
| Monocyte percentage of white cells | LTBR | rs10849448 | 0.76 | 4.E-46 | 0.06 | 27863252 | |
| Hip circumference adjusted for BMI | GDF5 | rs143384 | 0.57 | 1.E-31 | 0.04 | 25673412 | |
| Mean corpuscular hemoglobin | TBX6 | rs3809627 | 0.40 | 5.E-33 | 0.04 | 27863252 | |
| Serum ferritin levels | PMS1 | rs5742933 | 0.22 | 2.E-10 | 0.11 | 25162662 | |
|
| |||||||
| 3′UTR | Triglycerides | ZPR1 | rs964184 | 0.13 | 7.E-240 | 16.95 | 20686565 |
| Soluble ICAM-1 | ICAM1 | rs281437 | 0.30 | 3.E-10 | 10.10 | 18604267 | |
| Platelet count | SH2B3 | rs739496 | 0.11 | 7.E-12 | 8.25 | 25705162 | |
| Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio) | AHR | rs11400459 | 0.64 | 5.E-10 | 6.23 | 27702941 | |
| LDL cholesterol | CELSR2 | rs629301 | 0.22 | 1.E-170 | 5.65 | 20686565 | |
| Cholesterol, total | CELSR2 | rs629301 | 0.22 | 6.E-131 | 5.41 | 20686565 | |
| Age-related macular degeneration | NELFE | rs522162 | 0.93 | 2.E-10 | 2.33 | 23577725 | |
| Menarche (age at onset) | TRIM66 | rs4929923 | 0.36 | 1.E-08 | 2.30 | 21102462 | |
| Hypertriglyceridemia | ZPR1 | rs964184 | 0.30 | 5.E-35 | 1.77 | 23505323 | |
| Alcohol consumption (drinkers vs non-drinkers) | OAS3 | rs2072134 | 0.16 | 3.E-16 | 1.58 | 28485404 | |
| Blood protein levels | LEPR | rs17415296 | 0.19 | 4.E-229 | 1.40 | 28240269 | |
| Allergic sensitization | STAT6 | rs1059513 | 0.90 | 1.E-14 | 1.30 | 23817571 | |
| Obesity | KCNMA1 | rs2116830 | 0.80 | 3.E-10 | 1.26 | 21708048 | |
| Allergic sensitization | IL1RL1 | rs3771175 | 0.86 | 5.E-11 | 1.20 | 23817571 | |
| QT interval | LIG3 | rs1052536 | 0.53 | 6.E-25 | 0.98 | 24952745 | |
| End-stage coagulation | MCF2L | rs10665 | 0.88 | 2.E-47 | 0.85 | 23381943 | |
| Cholesterol, total | HMGCR | rs12916 | 0.40 | 5.E-74 | 0.68 | 24097068 | |
| Resting heart rate | KIAA1755 | rs6123471 | 0.46 | 7.E-72 | 0.60 | 27798624 | |
| Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) | FADS1 | rs174546 | 0.66 | 5.E-171 | 0.52 | 26584805 | |
| Urinary metabolites (H-NMR features) | ACADS | rs3916 | 0.28 | 2.E-22 | 0.40 | 24586186 | |
| HDL Cholesterol - Triglycerides (HDLC-TG) | APOA5 | rs2266788 | 0.09 | 5.E-13 | 0.39 | 21386085 | |
| Red blood cell fatty acid levels | FADS1 | rs174545 | 0.33 | 8.E-90 | 0.37 | 25500335 | |
| Metabolic syndrome | APOA5 | rs2266788 | 0.09 | 2.E-09 | 0.26 | 21386085 | |
| Metabolite levels (lipoprotein measures) | ZPR1 | rs964184 | 0.86 | 8.E-66 | 0.24 | 27005778 | |
| IgE levels | STAT6 | rs1059513 | 0.11 | 2.E-12 | 0.12 | 22075330 | |
| Cognitive function | TOMM40 | rs10119 | 0.29 | 6.E-09 | 0.04 | 25644384 | |