Table 2.
Minor allele frequencies (MAF) and odds ratios (OR) from association tests of ET and 20 SNPs throughout the SNCA locus.
Mayo 135 cases 423 controls |
Canada 201 cases 313 controls |
Emory 118 cases 267 controls |
Columbia 193 cases 282 controls |
Combined samples | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|
| |||||||||||
Chr4 (bp)† |
SNP | MAF: cases controls |
OR (95% CI) |
MAF: cases controls |
OR (95% CI) |
MAF: cases controls |
OR (95% CI) |
MAF: cases controls |
OR (95% CI) |
Combined OR (95% CI) |
P- value* |
90637010 | rs356218 | 0.311 | 0.96 | 0.308 | 0.91 | 0.326 | 0.99 | 0.396 | 1.29 | 1.04 | 0.621 |
0.319 | (0.72-1.3) | 0.329 | (0.69-1.2) | 0.315 | (0.70-1.4) | 0.328 | (0.99-1.7) | (0.90-1.2) | |||
90653134 | rs17180453 | 0.074 | 0.93 | 0.075 | 0.87 | 0.055 | 0.66 | 0.093 | 1.02 | 0.89 | 0.363 |
0.079 | (0.56-1.6) | 0.085 | (0.55-1.4) | 0.071 | (0.34-1.3) | 0.087 | (0.65-1.6) | (0.69-1.1) | |||
90657491 | rs3775423 | 0.111 | 1.56 | 0.075 | 0.89 | - | - | - | - | 1.08 | 0.35 |
0.073 | (0.99-2.5) | 0.083 | (0.56-1.4) | - | - | - | - | (0.92-1.3) | |||
90678541 | rs2736990Φ | 0.467 | 1.02 | 0.463 | 1.06 | 0.479 | 1.02 | - | - | 1.03 | 0.654 |
0.462 | (0.78-1.3) | 0.447 | (0.83-1.4) | 0.507 | (0.75-1.4) | - | - | (0.90-1.2) | |||
90678798 | rs2572324 | 0.289 | 1.05 | 0.286 | 0.98 | 0.275 | 0.93 | 0.298 | 1.09 | 1.02 | 0.808 |
0.279 | (0.78-1.4) | 0.289 | (0.74-1.3) | 0.26 | (0.65-1.3) | 0.27 | (0.82-1.4) | (0.88-1.2) | |||
90687507 | rs3796661 | 0.022 | 0.83 | 0.02 | 0.63 | 0.03 | 1.37 | 0.036 | 0.69 | 0.79 | 0.241 |
0.027 | (0.35-2.0) | 0.032 | (0.28-1.4) | 0.028 | (0.55-3.5) | 0.055 | (0.36-1.3) | (0.53-1.2) | |||
90707947 | rs2737033 | 0.278 | 1.14 | 0.251 | 0.87 | 0.28 | 0.99 | 0.256 | 1.03 | 1 | 0.998 |
0.252 | (0.84-1.5) | 0.278 | (0.65-1.2) | 0.258 | (0.70-1.4) | 0.241 | (0.77-1.4) | (0.86-1.2) | |||
90709741 | rs3775439Φ | 0.144 | 1 | - | - | 0.148 | 1.14 | 0.148 | 0.9 | 0.99 | 0.926 |
0.144 | (0.67-1.5) | - | - | 0.182 | (0.73-1.8) | 0.186 | (0.63-1.3) | (0.79-1.2) | |||
90712629 | rs10014396 | 0.126 | 1.01 | - | - | 0.114 | 0.89 | 0.098 | 0.77 | 0.88 | 0.328 |
0.125 | (0.66-1.5) | - | - | 0.152 | (0.55-1.4) | 0.138 | (0.50-1.2) | (0.68-1.1) | |||
90716177 | rs9995651 | 0.067 | 1.76 | 0.037 | 0.97 | 0.047 | 0.82 | 0.021 | 0.58 | 1.01 | 0.966 |
0.04 | (0.96-3.2) | 0.038 | (0.50-1.9) | 0.075 | (0.40-1.7) | 0.048 | (0.25-1.3) | (0.71-1.4) | |||
90721637 | rs2583959 | 0.278 | 1.19 | 0.241 | 0.83 | 0.271 | 0.98 | 0.251 | 1.05 | 1 | 0.993 |
0.243 | (0.88-1.6) | 0.276 | (0.62-1.1) | 0.243 | (0.69-1.4) | 0.23 | (0.78-1.4) | (0.86-1.2) | |||
90745707 | rs2737012 | 0.281 | 1.23 | 0.241 | 0.84 | 0.271 | 0.99 | 0.251 | 1.05 | 1.01 | 0.884 |
0.241 | (0.90-1.7) | 0.275 | (0.62-1.1) | 0.242 | (0.70-1.4) | 0.23 | (0.78-1.4) | (0.87-1.2) | |||
90757309 | rs1372519‡ | 0.193 | 0.81 | 0.228 | 1.12 | 0.195 | 0.83 | 0.263 | 1.25 | 1.01 | 0.926 |
0.23 | (0.58-1.1) | 0.208 | (0.83-1.5) | 0.23 | (0.56-1.2) | 0.223 | (0.92-1.7) | (0.86-1.2) | |||
90757394 | rs3756063‡ | 0.474 | 1 | 0.468 | 0.93 | 0.466 | 0.88 | 0.513 | 1.2 | 1.01 | 0.937 |
0.474 | (0.76-1.3) | 0.484 | (0.72-1.2) | 0.472 | (0.64-1.2) | 0.456 | (0.92-1.5) | (0.88-1.2) | |||
90757505 | rs1372520‡ | 0.193 | 0.81 | 0.226 | 1.11 | 0.195 | 0.85 | 0.263 | 1.26 | 1.01 | 0.871 |
0.23 | (0.58-1.1) | 0.208 | (0.82-1.5) | 0.226 | (0.57-1.2) | 0.22 | (0.93-1.7) | (0.86-1.2) | |||
90757735 | rs2619361 | 0.281 | 1.21 | 0.241 | 0.83 | 0.271 | 0.99 | 0.251 | 1.04 | 1 | 0.953 |
0.243 | (0.89-1.7) | 0.276 | (0.62-1.1) | 0.242 | (0.70-1.4) | 0.232 | (0.77-1.4) | (0.86-1.2) | |||
90757845 | rs2619362 | 0.281 | 1.21 | 0.241 | 0.85 | 0.275 | 1.01 | 0.251 | 1.03 | 1.01 | 0.866 |
0.243 | (0.89-1.7) | 0.271 | (0.63-1.1) | 0.242 | (0.72-1.4) | 0.234 | (0.77-1.4) | (0.87-1.2) | |||
90758389 | rs2301135 | 0.477 | 0.96 | 0.47 | 0.94 | 0.466 | 0.86 | 0.518 | 1.21 | 1 | 0.957 |
0.488 | (0.73-1.3) | 0.485 | (0.72-1.2) | 0.479 | (0.63-1.2) | 0.457 | (0.94-1.6) | (0.87-1.1) | |||
90759047 | rs2619363 | 0.278 | 1.19 | 0.239 | 0.82 | 0.271 | 1.01 | 0.249 | 1.02 | 1 | 0.979 |
0.243 | (0.88-1.6) | 0.275 | (0.62-1.1) | 0.238 | (0.71-1.4) | 0.232 | (0.76-1.4) | (0.85-1.2) | |||
90760828 | rs2583988 | 0.272 | 1.17 | 0.241 | 0.85 | 0.276 | 1.03 | 0.249 | 0.97 | 0.99 | 0.888 |
0.242 | (0.86-1.6) | 0.272 | (0.63-1.1) | 0.241 | (0.72-1.5) | 0.245 | (0.72-1.3) | (0.85-1.2) |
Entries of “-” indicate that a SNP was excluded from analysis for a particular cohort due to HWE failure in either ET samples or controls. Chr4 (bp) = Chromosome 4 base pair.
P-value given for combined series analysis
Chromosomal positions based on the February 2009 (GRCH37/hg19) genome assembly
SNPs that overlap with Pigullo et al36
SNPs that are present on the Illumina HumanHap300 array16