Table 5.
The ten genomic loci with its leading SNV.
| ID | Rs | p-Value | Beta (SE) | MAF | Nearest Gene | Func | RDB | eQTL | GO Terms |
|---|---|---|---|---|---|---|---|---|---|
| 12:59127963:A:G | rs79770152 | Metal: 3.90 × 10−8 DC: 2.18 × 10−5 RC: 3.79 × 10−5 |
0.0895 (0.0152) (++) |
9% | RP11-362K2.2:RP11-767I20.1 | ncRNA (intronic) | 7 | ||
| 9:78563802:G:T | rs13297983 | Metal: 6.10 × 10−8 DC: 7.80 × 10−7 RC: 1.00 × 10−3 |
0.0968 (0.0166) (++) |
7% | PCSK5 | Intronic | 7 | Renin secretion into blood stream, proteolysis, heart development | |
| 13:73655521:G:T | rs1537385 | Metal: 1.69 × 10−7 DC: 1.11 × 10−4 RC: 4.09 × 10−5 |
−0.1096 (0.0195) (--) |
4% | KLF5 | Intergenic | 3a | Angiogenesis | |
| 10:10130938:A:G | rs35246078 | Metal: 1.87 × 10−7 DC: 1.50 × 10−4 RC: 3.57 × 10−5 |
0.1091 (0.0195) (++) |
7% | RP5-933E2.1 | Intergenic | 6 | ||
| 4:148508838:G:T | rs61170156 | Metal: 1.28 × 10−6 DC: 2.20 × 10−5 RC: 1.45 × 10−3 |
0.0670 (0.0129) (++) |
17% | RP11-752L20.5 | ncRNA (intronic) | 5 | TMEM184C (thyroid), GPRC5C, CD300C, BTBD17, KIF19, FDXR, MRPS7 | |
| 1:92310874:A:G | rs6686126 | Metal: 1.37 × 10−6 DC: 9.87 × 10−3 RC: 3.13 × 10−6 |
0.0868 (0.0167) (++) |
7% | TGFBR3 | Intronic | 2b | Blood vessel development, heart morphogenesis, organ regeneration | |
| 15:45737253:A:C | rs72711259 | Metal: 1.58 × 10−6 DC: 2.12 × 10−2 RC: 6.62 × 10−7 |
0.0731 (0.0142) (++) |
12% | C15orf48 | Intronic | 7 | SLC28A2 (rectum, colon, esofagus and gastroesophagus junction, tibial nerve, testis, thyroid, cervical spinal cord), SQRDL (thyroid), SLC30A4, SHF (cervical spinal cord), DUOX1 (cerebellum), SORD, SPATA5L1 (adipose tissue, whole blood, artery tibial, esofagus and gastroesophagus junction, skeletal muscle, thyroid), SLC28A2, SPATA5L1, RP11-96O20.4, GATM (artery tibial, skeletal muscle), TRIM69 (thyroid) | Nucleus, mitochondrion |
| 17:72393744:A:G | rs4348170 | Metal: 1.60 × 10−6 DC: - RC: 2.55 × 10−7 |
0.1077 (0.0209) (?+) |
10% | RNA5SP448 | Intergenic | NA | BTBD17, FDXR (brain cortex), CD300C, FDXR, GPRC5C (adrenal gland), KIF19, MRPS7 (liver) | |
| 7:83857204:C:T | rs7802925 | Metal: 2.09 × 10−6 DC: 4.73 × 10−6 RC: 6.89 × 10−3 |
−0.0907 (0.0178) (--) |
6% | SEMA3A | Intronic | 5 | Apoptotic process, neuron migration, nerve development | |
| 8:117535199:C:T | rs16888486 | Metal: 2.19 × 10−6 DC: 2.71 × 10−3 RC: 3.10 × 10−5 |
−0.1023 (0.0201) (++) |
6% | EIF3H | Intergenic | 7 | UTP23 (whole blood) | Gene expression, extracellular vesicular exosome |
ID: SNV identifier; rs: RefSNP; Beta (SE): β coefficient and standard error, between brackets the direction of the SNV in the discovery and replication cohort; MAF: minor allele frequency; Func: functional consequence of the SNV on the gene obtained from ANNOVAR; RDB: RegulomeDB score which is the categorical score (from 1a to 7), 1a is the highest score that the SNV has the most biological evidence to be regulatory element; eQTL: expression quantitative trait loci, here appears the gene which expression the SNV modifies; GO terms: the most relevant gene ontology terms. +: positive effect of the β coefficient; -: negative effect of the β coefficient; ?: the SNV was not evaluated; the first symbol corresponds to discovery and the second to replication cohorts.