Table 2. Genome-wide and suggestive loci ( P < 10 − 6 ) for intact TAFI and the TAFI activation peptide (TAFI-AP, a marker of the extent of TAFI activation) .
Region | Most significant | Effect allele | Alternate allele | MAF | P -Value | Beta | SE | Closest genes |
---|---|---|---|---|---|---|---|---|
Intact TAFI | ||||||||
13q14.13 | rs56734909 | A | C | 0.343 | 5.3E-30 | 0.09 | 0.008 | CPB2 |
5q22.1 | rs11743286 | T | A | 0.022 | 3.0E-07 | −0.15 | 0.030 | TMEM232/SLC25A46 |
12q24.21 | rs78402106 | C | T | 0.017 | 4.9E-07 | −0.15 | 0.030 | TBX5/RBM19 |
2p25.3 | rs570398477 | C | T | 0.011 | 5.1E-07 | −0.18 | 0.037 | SNTG2/TPO |
12q24.31 | rs117742602 | G | A | 0.011 | 7.0E-07 | −0.19 | 0.038 | DENR/HCAR1/HCAR3 |
5p15.31 | rs189859825 | C | T | 0.033 | 9.8E-07 | 0.11 | 0.022 | SEMA5A/MIR4636 |
TAFI-AP | ||||||||
13q14.13 | rs940 | G | C | 0.235 | 1.0E-27 | 0.16 | 0.014 | CPB2 |
3p14.1 | rs140102162 | G | A | 0.011 | 1.3E-08 | −0.39 | 0.069 | MIR4272/KBTBD8/SUCLG2 |
11p11.2 | rs745770348 | A | ACC | 0.016 | 2.8E-07 | −0.27 | 0.053 | CD82/TSPAN18/ALX4 |
16q12.2 | rs117122953 | T | C | 0.012 | 3.8E-07 | −0.33 | 0.064 | IRX5/CRNDE/IRX6 |
9q33.3 | rs79740971 | A | G | 0.017 | 4.0E-07 | −0.28 | 0.055 | DENND1A/LHX2 |
3p26.1 | rs80062757 | T | G | 0.013 | 4.4E-07 | −0.31 | 0.062 | BHLHE40/ITPR1/EGOT |
16p12.2 | rs78970023 | A | T | 0.015 | 4.7E-07 | −0.27 | 0.053 | OTOA/METTL9/IGSF6 |
15q25.3 | rs111511310 | T | C | 0.025 | 5.5E-07 | −0.22 | 0.045 | LOC101929701/AGBL1/KLHL25 |
2q36.2 | rs4674940 | G | A | 0.032 | 6.0E-07 | −0.17 | 0.035 | DOCK10/MIR4439/CUL3 |
3p22.3 | rs150338049 | A | AGCAAG | 0.092 | 8.8E-07 | 0.11 | 0.023 | ARPP21/MIR128–2/LOC101928135 |
11p14.2 | rs113021326 | T | C | 0.016 | 9.0E-07 | −0.27 | 0.054 | FIBIN/SLC5A12/ANO3 |
Abbreviations: TAFI-AP, thrombin-activatable fibrinolysis inhibitor activation peptide.
Note: Intact TAFI, expressed as relative levels; TAFI-AP, expressed as relative levels.