Table 2.
Frequencies of the studied SNPs in PD, EOPD and LOPD patients and healthy controls
| Control group n (%) | PD group n (%) | P | OR (95% CI) | EOPD n (%) | P | OR (95% CI) | LOPD n (%) | P | OR (95% CI) | |
|---|---|---|---|---|---|---|---|---|---|---|
| rs6269 A > G | ||||||||||
| AA | 56 (35.0) | 62 (43.4) | - | - | 10 (41.7) | - | - | 52 (43.7) | - | - |
| AG | 77 (49.0) | 67 (46.9) | 0.33 | 0.79 (0.48–1.28) | 12 (50.0) | 0.77 | 0.87 (0.35–2.16) | 55 (46.2) | 0.32 | 0.77 (0.46–1.28) |
| GG | 24 (15.9) | 14 (9.9) | 0.09 | 0.53 (0.25–1.12) | 2 (8.3) | 0.50 | 0.47 (0.10–2.29) | 12 (10.1) | 0.12 | 0.54 (0.25–1.19) |
| AG + GG | 101 (65.0) | 81 (56.6) | 0.17 | 0.72 (0.46–1.15) | 14 (58.3) | 0.57 | 0.78 (0.32–1.86) | 67 (56.3) | 0.18 | 0.71 (0.44–1.16) |
| Major (A) allele frequency | 189 (60.2) | 191 (66.8) | - | - | 32 (66.7) | - | - | 159 (66.8) | - | - |
| Minor (G) allele frequency | 125 (39.8) | 95 (33.2) | 0.09 | 0.75 (0.54–1.05) | 16 (33.3) | 0.29 | 0.71 (0.38–1.34) | 79 (33.2) | 0.11 | 0.75 (0.53–1.07) |
| rs4633 C > T | ||||||||||
| CC | 89 (55.4) | 78 (54.6) | - | 8 (33.3) | - | - | 70 (58.8) | - | - | |
| CT | 57 (37.2) | 56 (39.2) | 0.64 | 1.12 (0.70–1.81) | 15 (62.5) | 0.02* | 2.93 (1.17–7.35) | 41 (34.5) | 0.73 | 0.92 (0.55–1.52) |
| TT | 11 (7.4) | 9 (6.3) | 0.89 | 0.94 (0.37–2.37) | 1 (4.2) | 1.00 | 1.01 (0.12–8.87) | 8 (6.7) | 0.87 | 0.93 (0.35–2.42) |
| CT + TT | 68 (44.6) | 65 (45.5) | 0.71 | 1.09 (0.69–1.72) | 16 (66.7) | 0.03* | 2.68 (1.06–6.47) | 49 (41.2) | 0.72 | 0.92 (0.57–1.49) |
| Major (C) allele frequency | 235 (74.8) | 212 (74.1) | - | - | 31 (64.6) | - | - | 181 (76.1) | - | - |
| Minor (T) allele frequency | 79 (25.2) | 74 (25.9) | 0.84 | 1.04 (0.72–1.50) | 17 (35.4) | 0.13 | 1.63 (0.86–3.11) | 57 (23.9) | 0.75 | 0.94 (0.63–1.39) |
| rs4818 C > G | ||||||||||
| CC | 55 (35.0) | 64 (44.8) | - | - | 10 (41.7) | - | - | 54 (45.4) | - | - |
| CG | 82 (52.2) | 66 (46.2) | 0.14 | 0.69 (0.43–1.12) | 12 (50.0) | 0.64 | 0.81 (0.33–1.99) | 54 (45.4) | 0.12 | 0.67 (0.40–1.12) |
| GG | 20 (12.7) | 13 (9.1) | 0.14 | 0.56 (0.26–1.23) | 2 (8.3) | 0.72 | 0.55 (0.11–2.73) | 11 (9.2) | 0.17 | 0.56 (0.25–1.28) |
| CG + GG | 102 (65.0) | 79 (55.3) | 0.09 | 0.67 (0.42–1.06) | 14 (58.3) | 0.53 | 0.76 (0.32–1.81) | 65 (54.6) | 0.08 | 0.65 (0.40–1.06) |
| Major (C) allele frequency | 192 (61.2) | 194 (67.8) | - | - | 32 (66.7) | - | - | 162 (68.1) | - | - |
| Minor (G) allele frequency | 122 (38.9) | 92 (32.2) | 0.09 | 0.75 (0.53–1.05) | 16 (33.3) | 0.46 | 0.79 (0.41–1.50) | 76 (31.9) | 0.09 | 0.74 (0.52–1.05) |
| rs4680 G > A | ||||||||||
| GG | 91 (58.0) | 79 (55.2) | - | - | 8 (33.3) | - | - | 71 (59.7) | - | - |
| AG | 57 (36.3) | 56 (39.2) | 0.61 | 1.13 (0.70–1.82) | 15 (62.5) | 0.02* | 2.99 (1.19–7.51) | 41 (34.5) | 0.75 | 0.92 (0.56–1.53) |
| AA | 9 (5.7) | 8 (5.6) | 0.96 | 1.02 (0.38–2.78) | 1 (4.2) | 0.59 | 1.26 (0.14–11.28) | 7 (5.9) | 1.00 | 1.00 (0.35–2.81) |
| AG + AA | 66 (42.0) | 64 (44.8) | 0.64 | 1.12 (0.71–1.77) | 16 (66.7) | 0.02* | 2.76 (1.12–6.82) | 48 (40.3) | 0.78 | 0.93 (0.57–1.51) |
| Major (G) allele frequency | 239 (76.1) | 214 (74.8) | - | - | 31 (64.6) | - | - | 183 (76.9) | - | - |
| Minor (A) allele frequency | 75 (23. 9) | 72 (25.2) | 0.71 | 1.07 (0.74–1.56) | 17 (35.4) | 0.09 | 1.75 (0.92–3.33) | 55 (23.1) | 0.83 | 0.96 (0.64–1.43) |
| rs4633 C > T; rs4680 G > A | ||||||||||
| CC/GG | 86 (54.8) | 78 (54.5) | - | - | 8 (33.3) | - | - | 70 (58.8) | - | - |
| Others | 71 (45.2) | 65 (45.5) | 0.97 | 1.01 (0.64–1.59) | 16 (66.7) | 0.05 | 2.42 (0.98–5.99) | 49 (41.2) | 0.50 | 0.85 (0.52–1.37) |
| CC/GA | 3 (1.9) | 0 | 0.25 | - | 0 | 1.00 | - | 0 | 0.26 | - |
| CT/GG | 4 (2.6) | 1 (0.7) | 0.37 | 0.28 (0.03–2.52) | 0 | 1.00 | - | 1 (0.8) | 0.39 | 0.31 (0.03–2.81) |
| CT/GA | 53 (33.8) | 55 (38.5) | 0.59 | 1.14 (0.70–1.86) | 15 (62.5) | 0.02* | 3.04 (1.21–7.66) | 40 (33.6) | 0.78 | 0.93 (0.55–1.56) |
| TT/GG | 1 (0.6) | 0 | 1.00 | - | 0 | 1.00 | - | 0 | 1.00 | - |
| TT/GA | 1 (0.6) | 1 (0.7) | 1.00 | 1.10 (0.07–17.93) | 0 | 1.00 | - | 1 (0.8) | 1.00 | 1.23 (0.08–20.00) |
| TT/AA | 9 (5.7) | 8 (5.6) | 0.97 | 0.98 (0.36–2.67) | 1 (4.2) | 1.00 | 1.19(0.13–10.67) | 7 (5.9) | 0.93 | 0.96 (0.34–2.70) |
| rs6269 A > G; rs4818 C > G | ||||||||||
| AA/CC | 52 (33.1) | 61 (42.7) | - | - | 10 (41.7) | - | - | 51 (42.9) | - | - |
| Others | 105 (66.9) | 82 (57.3) | 0.09 | 0.67 (0.42–1.06) | 14 (58.3) | 0.41 | 0.69 (0.29–1.67) | 68 (57.1) | 0.10 | 0.66 (0.40–1.08) |
| AA/CG | 4 (2.6) | 1 (0.7) | 0.19 | 0.21 (0.02–1.97) | 0 | 1.00 | - | 1 (0.8) | 0.37 | 0.26 (0.03–2.36) |
| AG/CG | 76 (48.4) | 64 (44.8) | 0.19 | 0.72 (0.44–1.18) | 12 (50.0) | 0.67 | 0.82 (0.33–2.04) | 52 (43.7) | 0.18 | 0.70 (0.41–1.18) |
| AG/CC | 1 (0.6) | 3 (2.1) | 0.63 | 2.56 (0.26–25.34) | 0 | 1.00 | - | 3 (2.5) | 0.62 | 3.06 (0.31–30.38) |
| GG/CC | 2 (1.3) | 0 | 0.22 | - | 0 | 1.00 | - | 0 | 0.50 | - |
| GG/CG | 2 (1.3) | 1 (0.7) | 0.60 | 0.43 (0.04–4.84) | 0 | 1.00 | - | 1 (0.8) | 1.00 | 0.51 (0.05–5.80) |
| GG/GG | 20 (12.7) | 13 (9.1) | 0.14 | 0.55 (0.25–1.22) | 2 (8.3) | 0.72 | 0.52 (0.11–2.58) | 11 (9.2) | 0.17 | 0.56 (0.24–1.29) |
| 6269 A > G; rs4633 C > T; rs4818 C > G; rs4680 G > A; | ||||||||||
| 1. L/L | 20 (12.7) | 29 (20.3) | 0.10 | 0.47 (0.19–1.17) | 2 (8.3) | 1.00 | 1.05 (0.13–8.24) | 27 (22.7) | 0.11 | 0.47 (0.19–1.18) |
| 2. L/M | 20 (12.7) | 23 (16.1) | 0.27 | 0.60 (0.24–1.50) | 7 (29.2) | 0.26 | 0.30 (0.06–1.63) | 16 (13.4) | 0.64 | 0.79 (0.30–2.10) |
| 3. M/M | 9 (6.3) | 8 (5.6) | 0.67 | 0.77 (0.24–2.52) | 1 (4.2) | 1.00 | 0.95 (0.08–11.87) | 7 (5.9) | 0.74 | 0.81 (0.24–2.76) |
| 4. H/L | 45 (31.5) | 33 (23.1) | 0.87 | 0.93 (0.40–2.15) | 4 (16.7) | 1.00 | 1.18 (0.20–7.02) | 29 (24.4) | 0.96 | 0.98 (0.42–2.32) |
| 5. H/M | 29 (20.3) | 30 (21.0) | 0.35 | 0.66 (0.28–1.58) | 8 (33.3) | 0.30 | 0.38 (0.07–2.00) | 22 (18.5) | 0.70 | 0.83 (0.34–2.07) |
| 6. H/H | 19 (14.0) | 13 (9.1) | - | - | 2 (8.3) | - | - | 12 (10.1) | - | - |
| 7. Rare | 15 (10.5) | 7 (4.9) | 0.51 | 0.68 (0.22–2.14) | 0 | 0.50 | - | 6 (5.0) | 0.45 | 0.63 (0.19–2.08) |
| 8. H carrier (4 + 5 + 6) | 93 (65.0) | 76 (53.2) | - | - | 14 (58.3) | - | - | 63 (52.9) | - | - |
| 9. L carrier (1 + 2 + 4) | 85 (59.4) | 85 (59.4) | 0.35 | 1.22 (0.80–1.88) | 13 (54.2) | 0.97 | 1.02 (0.45–2.28) | 72 (60.5) | 0.33 | 1.25 (0.80–1.96) |
| 10. other (1 + 2 + 3) | 49 (31.2) | 60 (41.6) | 0.10 | 1.50 (0.92–2.43) | 10 (41.7) | 0.50 | 1.36 (0.56–3.28) | 50 (42.0) | 0.11 | 1.51 (0.91–2.50) |
CI confidence interval, EOPD early onset PD, LOPD late onset PD, OR odds ratio
L low activity haplotype -A_C_C_G, M medium activity haplotype -A_T_C_A, H high activity haplotype -G_C_G_G; P values calculated in relation to each SNP normal genotype and allele frequency (rs6269 AA, allele A; rs4633 CC, allele C; rs4818 CC, allele C; rs4680 GG, allele G; rs4633-rs4680 CC/GG; rs6269-s4818 AA/CC) as a referent genotype; four SNPs: H/H (6) as a referent genotype [(1–5, 7), H carriers (8) as a referent genotype (9, 10); and L carriers (9) as a referent genotype (11). When more than 20% of the cell numbers were missing, or when the expected number of cases was less than 1.0 in a cell, Fisher’s exact test was performed. *P 0.05