Table 4.
Genetic Loci Significantly Associated with 4 Phenotypic Indicators Related to Red Blood Cells Identified by the GWAS After Imputation Analysis
| Indicator | Gene | SNP ID | Chr | Position | Alleles | MA | MAF | Func | β | SE | p |
|---|---|---|---|---|---|---|---|---|---|---|---|
| RBC | TBX3, MED13L | rs11067555 | 12 | 115377103 | T /C | T | 0.022 | Intergenic | 0.68 | 0.15 | 2.47E-06 |
| AGO1 | rs138026185 | 1 | 35878638 | A /G | A | 0.485 | Intronic | 0.20 | 0.05 | 3.18E-06 | |
| RBMS3 | rs191082924 | 3 | 29798074 | A /G | A | 0.278 | Intronic | 0.20 | 0.04 | 3.78E-06 | |
| STAP1 | rs191799779 | 4 | 67608223 | T /A | T | 0.274 | Downstream | 0.20 | 0.04 | 2.19E-07 | |
| DCBLD2 | rs278382 | 3 | 98808894 | A /G | A | 0.305 | Intronic | 0.16 | 0.04 | 3.59E-06 | |
| C15orf53, C15orf54 | rs2912390 | 15 | 38803385 | C /T | C | 0.040 | Intergenic | 0.52 | 0.11 | 2.75E-07 | |
| SVEP1 | rs77133716 | 9 | 110502789 | T /G | T | 0.302 | Intronic | 0.17 | 0.04 | 4.62E-06 | |
| FMO9P, POGK | rs77634171 | 1 | 166643290 | T /C | T | 0.192 | Intergenic | 0.27 | 0.06 | 3.92E-06 | |
| LINC02429, MIR548AG1 | rs78117683 | 4 | 59074899 | G /A | G | 0.029 | Intergenic | 0.58 | 0.12 | 2.27E-06 | |
| FREM2, STOML3 | rs9532301 | 13 | 38902978 | G /C | G | 0.299 | Intergenic | 0.18 | 0.04 | 2.35E-06 | |
| RDW% | LOC100506474, LINC00276 | rs118103202 | 2 | 13902329 | A /T | A | 0.158 | Intergenic | 0.33 | 0.06 | 3.49E-07 |
| EPHA3, NONE | rs6551413 | 3 | 89591200 | G /C | G | 0.189 | Intergenic | 0.27 | 0.06 | 2.35E-06 | |
| NECTIN3, CD96 | rs4682281 | 3 | 111513738 | C /A | C | 0.050 | Intergenic | 0.48 | 0.10 | 1.96E-06 | |
| TLE1 | rs78796872 | 9 | 81639243 | G /T | G | 0.038 | Intronic | 0.58 | 0.12 | 2.89E-06 | |
| MALRD1 | rs736242 | 10 | 19684333 | G /C | G | 0.027 | Intronic | 0.66 | 0.14 | 4.80E-06 | |
| LLGL2 | rs1661723 | 17 | 75566210 | T /C | T | 0.123 | Intronic | 0.33 | 0.07 | 1.14E-06 | |
| RDW | YTHDF2, OPRD1 | rs10799121 | 1 | 28803420 | C /T | C | 0.100 | Intergenic | 0.38 | 0.07 | 7.78E-07 |
| FOXJ3 | rs141684413 | 1 | 42299978 | A /G | A | 0.001 | Intronic | 3.24 | 0.68 | 2.25E-06 | |
| LINC01677, LINC01661 | rs10458515 | 1 | 106645258 | T /A | T | 0.493 | Intergenic | 0.20 | 0.04 | 3.03E-06 | |
| LINC00578 | rs1875098 | 3 | 177596880 | A /G | A | 0.002 | ncRNA_intronic | 2.50 | 0.48 | 2.36E-07 | |
| FER1L6-AS2 | rs6859250 | 5 | 124068266 | G /A | G | 0.022 | ncRNA_intronic | 0.70 | 0.15 | 4.10E-06 | |
| LINC00703, LINC00704 | rs7074882 | 10 | 4505038 | G /T | G | 0.038 | Intergenic | 0.59 | 0.12 | 5.99E-07 | |
| CCDC157 | rs35289401 | 22 | 30368637 | T /C | T | 0.121 | Intronic | 0.37 | 0.07 | 4.21E-08 | |
| MCV | TOX | rs10504266 | 8 | 58865140 | A /C | A | 0.362 | Intronic | 0.18 | 0.04 | 1.65E-06 |
| NRIP1, USP25 | rs12482879 | 21 | 15085300 | C /G | C | 0.244 | Intergenic | 0.20 | 0.04 | 1.71E-06 | |
| LINC02237, CSMD3 | rs13261386 | 8 | 111579539 | C /T | C | 0.279 | Intergenic | 0.16 | 0.04 | 3.68E-06 | |
| RASA3, CDC16 | rs1810797 | 13 | 114163337 | G /A | G | 0.014 | Intergenic | 0.81 | 0.18 | 7.20E-07 | |
| NRXN1 | rs34533417 | 2 | 49923506 | G /A | G | 0.194 | Intronic | 0.26 | 0.06 | 2.92E-06 |
Notes: p value < 5E-08 indicates that the candidate SNVs have genome-wide significance; p value < 5E-06 indicates that the candidate SNVs have suggestive genome-wide significance. Text bold represent SNVs with p value < 5E-07, which will be selected as the top SNVs for replication test.
Abbreviations: RBC, red blood cell count; MCV, mean corpuscular volume; RDW%, red cell distribution width%; RDW, red blood cell distribution width; N, number.