Table 2.
Top Association Results in European-American Samples with Cases Defined as ETDRS Grade ≥14 for Variants within Genes Previously Associated with DR, DN, or T2D
SNP | Chr | Gene | Position | Minor Allele | ARIC |
CHS |
MESA |
CMH Combined Analysis |
P Correction |
|||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAF |
OR | P | MAF |
OR | P | MAF |
OR | P | MAF |
OR | L95 | U95 | P | Bonferroni | Permutation | |||||||||
Cases | Controls | Cases | Controls | Cases | Controls | Cases | Controls | |||||||||||||||||
rs6128 | 1 | SELP | 167829528 | T | 0.08 | 0.16 | 0.48 | 0.0007 | 0.06 | 0.18 | 0.30 | 0.02 | 0.08 | 0.20 | 0.36 | 0.02 | 0.08 | 0.17 | 0.43 | 0.31 | 0.62 | 3.1 × 10−6 | 0.0001 | 0.0001 |
rs6133 | 1 | SELP | 167831970 | A | 0.05 | 0.12 | 0.39 | 0.0003 | 0.03 | 0.13 | 0.22 | 0.02 | 0.07 | 0.13 | 0.50 | 0.16 | 0.05 | 0.12 | 0.38 | 0.25 | 0.59 | 1.1 × 10−5 | 0.0004 | 0.0001 |
rs3917779 | 1 | SELP | 167837472 | A | 0.05 | 0.12 | 0.40 | 0.0004 | 0.03 | 0.12 | 0.23 | 0.03 | 0.07 | 0.13 | 0.50 | 0.16 | 0.05 | 0.12 | 0.39 | 0.26 | 0.60 | 1.6 × 10−5 | 0.0006 | 0.0001 |
rs12262390 | 10 | HHEX | 94436103 | C | 0.12 | 0.09 | 1.48 | 0.05 | 0.15 | 0.10 | 1.61 | 0.22 | 0.18 | 0.09 | 2.27 | 0.03 | 0.14 | 0.09 | 1.61 | 1.18 | 2.20 | 0.002 | 0.10 | 0.004 |
rs9356754 | 6 | CDKAL1 | 20916721 | G | 0.51 | 0.43 | 1.37 | 0.01 | 0.53 | 0.44 | 1.43 | 0.18 | 0.40 | 0.38 | 1.09 | 0.74 | 0.49 | 0.42 | 1.32 | 1.08 | 1.63 | 0.007 | 0.29 | 0.008 |
rs9465904 | 6 | CDKAL1 | 20929641 | C | 0.37 | 0.30 | 1.38 | 0.01 | 0.42 | 0.33 | 1.49 | 0.15 | 0.28 | 0.26 | 1.08 | 0.79 | 0.36 | 0.30 | 1.34 | 1.08 | 1.65 | 0.008 | 0.33 | 0.01 |
rs11466493 | 3 | TGFBR2 | 30661786 | G | 0.01 | 0.04 | 0.14 | 0.002 | 0.06 | 0.05 | 1.23 | 0.72 | 0.04 | 0.07 | 0.59 | 0.41 | 0.02 | 0.05 | 0.41 | 0.21 | 0.80 | 0.009 | 0.35 | 0.01 |
rs17025862 | 3 | TGFBR2 | 30660132 | G | 0.01 | 0.04 | 0.14 | 0.002 | 0.06 | 0.05 | 1.23 | 0.72 | 0.04 | 0.07 | 0.59 | 0.41 | 0.02 | 0.05 | 0.41 | 0.21 | 0.80 | 0.009 | 0.35 | 0.01 |
rs7747989 | 6 | CDKAL1 | 20921354 | C | 0.37 | 0.30 | 1.35 | 0.02 | 0.44 | 0.33 | 1.60 | 0.09 | 0.28 | 0.26 | 1.08 | 0.79 | 0.36 | 0.30 | 1.33 | 1.07 | 1.65 | 0.009 | 0.36 | 0.01 |
rs2328572 | 6 | CDKAL1 | 21323815 | A | 0.003 | 0.02 | 0.15 | 0.03 | 0 | 0.03 | NA | NA | 0.01 | 0.03 | 0.48 | 0.48 | 0.005 | 0.02 | 0.19 | 0.05 | 0.69 | 0.01 | 0.44 | 0.01 |
rs10214694 | 6 | CDKAL1 | 21321533 | T | 0.003 | 0.02 | 0.15 | 0.03 | 0 | 0.03 | NA | NA | 0.01 | 0.03 | 0.48 | 0.48 | 0.005 | 0.02 | 0.19 | 0.05 | 0.69 | 0.01 | 0.45 | 0.01 |
rs12190631 | 6 | CDKAL1 | 21020651 | G | 0.05 | 0.03 | 1.38 | 0.30 | 0.12 | 0.02 | 6.17 | 0.0001 | 0.01 | 0.01 | 1.29 | 0.83 | 0.05 | 0.03 | 1.85 | 1.14 | 3.01 | 0.01 | 0.51 | 0.02 |
rs2275729 | 10 | HHEX | 94442410 | G | 0.15 | 0.12 | 1.32 | 0.13 | 0.15 | 0.12 | 1.29 | 0.51 | 0.21 | 0.10 | 2.26 | 0.02 | 0.16 | 0.12 | 1.44 | 1.08 | 1.92 | 0.01 | 0.52 | 0.02 |
rs1511024 | 4 | FABP2 | 120459629 | T | 0.05 | 0.03 | 1.74 | 0.07 | 0.05 | 0.02 | 3.00 | 0.12 | 0.06 | 0.03 | 1.76 | 0.35 | 0.05 | 0.03 | 1.86 | 1.13 | 3.06 | 0.01 | 0.55 | 0.01 |
rs9350294 | 6 | CDKAL1 | 20978072 | T | 0.38 | 0.32 | 1.26 | 0.07 | 0.44 | 0.32 | 1.65 | 0.07 | 0.33 | 0.29 | 1.24 | 0.45 | 0.38 | 0.32 | 1.31 | 1.05 | 1.61 | 0.01 | 0.55 | 0.01 |
The minor allele is the effect allele for the ORs. Chr, chromosome; L95, lower 95% CI boundary; U95, upper 95% CI boundary; NA, not available.