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Table 2 Frequencies of the studied SNPs in PD, EOPD and LOPD patients and healthy controls

From: Roles of functional catechol-O-methyltransferase genotypes in Chinese patients with Parkinson’s disease

  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)
  1. CI confidence interval, EOPD early onset PD, LOPD late onset PD, OR odds ratio
  2. 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
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Translational Neurodegeneration

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