Genotype frequencies in healthy and COPD groups, and associations between different genotypes of sulfatase modifying factor (SUMF1) single nucleotide polymorphisms (SNPs)# and COPD¶
| ref/ref | ref/var var/var | p-value | OR (95% CI)+ | |||||
| Healthy | COPD | Healthy | COPD | |||||
| rs1356229 | CC | 387 (96) | 149 (97) | CT | 16 (4) | 5 (3) | 0.74 | 1.20 (0.42–3.45) |
| TT | 0 (0) | 0 (0) | ||||||
| rs308739 | CC | 348 (87) | 136 (88) | TT | 54 (13) | 18 (12) | 0.98 | 1.01 (0.56–1.82) |
| AA | 0 (0) | 0 (0) | ||||||
| rs4685744 | CC | 109 (27) | 43 (28) | CT | 187 (46) | 73 (47) | 0.83 | 0.95 (0.60–1.51) |
| TT | 107 (27) | 38 (25) | 0.60 | 0.87 (0.51–1.47) | ||||
| rs2819562 | CC | 87 (22) | 36 (23) | CT | 182 (45) | 74 (48) | 0.63 | 0.89 (0.54–1.45) |
| TT | 133 (33) | 44 (29) | 0.29 | 0.75 (0.44–1.28) | ||||
| rs2819561 | AA | 87 (22) | 36 (23) | AG | 183 (46) | 74 (48) | 0.61 | 0.88 (0.54–1.44) |
| GG | 132 (33) | 44 (29) | 0.29 | 0.75 (0.44–1.29) | ||||
| rs2633852 | AA | 85 (21) | 36 (23) | AG | 181 (45) | 74 (48) | 0.61 | 0.88 (0.54–1.44) |
| GG | 134 (34) | 44 (29) | 0.26 | 0.73 (0.43–1.26) | ||||
| rs11915920 | CC | 111 (28) | 43 (28) | CT | 186 (46) | 75 (49) | 0.99 | 1.00 (0.63–1.58) |
| TT | 105 (26) | 36 (23) | 0.55 | 0.85 (0.50–1.45) | ||||
| rs807785 | CC | 33 (8) | 17 (11) | CT | 164 (41) | 70 (45) | 0.88 | 0.95 (0.49–1.85) |
| TT | 206 (51) | 67 (44) | 0.39 | 0.75 (0.39–1.46) | ||||
| rs3864051 | CC | 228 (57) | 69 (45) | CT | 171 (43) | 74 (48) | 0.13 | 1.36 (0.92–2.03) |
| TT | 2 (0.5) | 11 (7) | 0.001 | 14.22 (3.04–66.49) | ||||
| rs794187 | CC | 163 (41) | 68 (44) | CT | 190 (47) | 70 (46) | 0.37 | 0.83 (0.55–1.25) |
| TT | 49 (12) | 16 (10) | 0.46 | 0.78 (0.41–1.50) | ||||
| rs794185 | TT | 114 (28) | 52 (34) | TC | 211 (52) | 76 (49) | 0.15 | 0.73 (0.47–1.12) |
| CC | 78 (19) | 26 (17) | 0.33 | 0.75 (0.43–1.34) | ||||
| rs2322683 | CC | 53 (13) | 20 (13) | CT | 181 (45) | 56 (37) | 0.51 | 0.81 (0.44–1.50) |
| TT | 169 (42) | 77 (50) | 0.46 | 1.25 (0.69–2.29) | ||||
| rs793391 | TT | 174 (43) | 81 (53) | TG | 185 (46) | 54 (35) | 0.013 | 0.59 (0.39–0.89) |
| GG | 44 (11) | 19 (12) | 0.70 | 0.88 (0.48–1.64) | ||||
| rs12634249 | CC | 225 (56) | 96 (62) | CA | 157 (39) | 46 (30) | 0.034 | 0.63 (0.42–0.97) |
| AA | 21 (5) | 12 (8) | 0.56 | 1.26 (0.58–2.73) | ||||
| rs2819590 | CC | 192 (48) | 91 (59) | CT | 175 (44) | 47 (31) | 0.006 | 0.55 (0.36–0.84) |
| TT | 33 (8) | 16 (10) | 0.97 | 1.01 (0.52–1.98) | ||||
| rs304092 | GG | 191 (47) | 86 (56) | GA | 176 (44) | 53 (34) | 0.031 | 0.63 (0.42–0.96) |
| AA | 35 (9) | 15 (10) | 0.88 | 0.95 (0.48–1.86) | ||||
Data are presented as n (%), unless otherwise stated. Significant associations are depicted in bold. #: SNPs are sorted according to chromosome localisation (chromosome localisation is from GRCh38.p12); ¶: logistic regression between reference allele (ref)/ref and ref/variance allele (var) or var/var as indicated, and adjusted for age, sex and smoking status; +: odds ratio of having COPD depending on allele on different SNP in SUMF1.