Table 2.
Top 10 GWAS Loci associated with α-SMA expression and total collagen content.
| SNP | Gene | Locus | Position | A1 | A2 | MAF | Beta | SE | P |
|---|---|---|---|---|---|---|---|---|---|
| α-SMA expression | |||||||||
| rs8015303 | BAZ1A | 14q13.2 | 34316223 | G | A | 0.06967 | −0.7229 | 0.1313 | 3.70e-7 |
| rs1012580 | NOL10 | 2p25.1 | 10725199 | A | G | 0.2869 | −0.4247 | 0.07935 | 6.96e-7 |
| rs12722561 | IL2RA | 10p15.1 | 6109899 | A | G | 0.1557 | −0.5144 | 0.09968 | 1.54e-6 |
| rs12479413 | AK311291 | 2q14.3 | 129343258 | G | A | 0.05328 | −0.9579 | 0.1869 | 1.78e-6 |
| rs1274351 | BC037970 | 10q23.31 | 92237989 | A | G | 0.123 | −0.5068 | 0.09921 | 1.90e-6 |
| rs1274323 | HTR7 | 10q23.31 | 92264462 | G | A | 0.127 | −0.5038 | 0.09925 | 2.17e-6 |
| rs724999 | ST6GALNAC3 | 1p31.1 | 76961614 | A | G | 0.07438 | −0.8518 | 0.1741 | 4.58e-6 |
| rs12207 | TUBB3 | 16q24.3 | 88529861 | A | G | 0.05785 | −0.9667 | 0.2023 | 7.23e-6 |
| rs1345546 | NUAK1 | 12q23.3 | 104826063 | A | G | 0.09426 | −0.6404 | 0.1381 | 1.23e-5 |
| rs10281171 | AOAH | 7p14.2 | 36773906 | G | A | 0.3852 | −0.3295 | 0.07149 | 1.37e-5 |
| Total collagen content | |||||||||
| rs6908031 | FAM46A | 6q14.1 | 81900082 | G | A | 0.2992 | −0.2554 | 0.04814 | 8.46e-7 |
| rs2108935 | LDB2 | 4p15.32 | 16453008 | G | A | 0.2541 | −0.2545 | 0.05043 | 2.44e-6 |
| rs7089692 | ZWINT | 10q21.1 | 58603555 | G | A | 0.2459 | −0.2431 | 0.0493 | 3.89e-6 |
| rs3950119 | BCAR3 | 1p22.1 | 93821825 | G | A | 0.2336 | 0.2674 | 0.05438 | 4.10e-6 |
| rs9512950 | TPTE2 | 13q12.11 | 18870233 | C | A | 0.2992 | −0.2572 | 0.05406 | 7.74e-6 |
| rs181662 | EMX2 | 10q26.11 | 119372445 | G | A | 0.3279 | 0.2253 | 0.04743 | 7.97e-6 |
| rs13092046 | CNTN3 | 3p12.3 | 74617642 | A | G | 0.4262 | 0.2266 | 0.04828 | 9.97e-6 |
| rs2237172 | ATXN1 | 6p22.3 | 16709566 | G | A | 0.3512 | −0.2444 | 0.05214 | 1.03e-5 |
| rs6894788 | EFNA5 | 5q21.3 | 106875173 | G | A | 0.2645 | 0.2476 | 0.05317 | 1.16e-5 |
| rs9368758 | COL11A2 | 6p21.32 | 33245999 | A | G | 0.06557 | −0.4443 | 0.09714 | 1.58e-5 |
The single nucleotide polymorphism is mapped to its nearest gene; A1 is the minor allele, and A2 is the major allele; All positions refer to hg18. α-SMA=alpha-smooth muscle actin, MAF=minor allele frequencies, SE=standard error.