Associations between CPM and CPSF6 polymorphisms and silicosis risk
| Gene | SNP | Position | Location | Alleles* | Cases† | Controls† | MAF‡ | OR (95% CI)§ | P value¶ |
| =177 | =204 | (case/control) | |||||||
| CPM | rs7313212 | 69,356,027 | Intron | A/G | 146/29/1 | 179/20/5 | 0.09/0.07 | 1.22 (0.70 to 2.15) | 0.482 |
| rs12812500 | 69,357,231 | 0.21 kb upstream | C/G | 70/81/25 | 97/86/21 | 0.37/0.31 | 1.45 (1.03 to 2.04) | 0.034 | |
| rs7980673 | 69,360,029 | 3.01 kb upstream | G/A | 136/39/1 | 143/56/5 | 0.12/0.16 | 0.65 (0.40 to 1.06) | 0.087 | |
| rs1908668 | 69,360,734 | 3.71 kb upstream | T/C | 155/21/0 | 182/21/1 | 0.06/0.06 | 1.29 (0.64 to 2.59) | 0.480 | |
| CPSF6 | rs11838112 | 69,629,033 | 4.28 kb upstream | T/C | 101/64/12 | 105/82/17 | 0.25/0.28 | 0.84 (0.58 to 1.21) | 0.338 |
| rs11177566 | 69,630,911 | 2.41 kb upstream | C/A | 105/66/6 | 125/67/12 | 0.22/0.22 | 1.10 (0.74 to 1.63) | 0.639 | |
| rs11177568 | 69,634,143 | Intron | C/T | 155/21/1 | 174/30/0 | 0.06/0.07 | 1.10 (0.57 to 2.10) | 0.784 | |
| rs2305641 | 69,646,914 | Exon | C/T | 57/82/38 | 75/89/40 | 0.45/0.41 | 1.07 (0.78 to 1.47) | 0.678 |
*Major/minor allele.
†Wild-type homozygote/heterozygote/variant homozygote.
‡MAF between cases and controls.
§Logistic regression analysis adjusted for age, gender, years of silica dust exposure and smoking status in the additive model (OR; CI).
CPM, carboxypeptidase M; CPSF6, cleavage and polyadenylation-specific factor 6; MAF, minor allele frequency; SNP, single-neucleotide polymorphism.