Table 1.

Summary of results for individual mtSNPs loci in two independent Spanish case control studies

HG (haplogroup) *SNP variant Spanish mainlandCanary IslandsAdjusted P value (Bai's study)
Cases N (%)Controls N (%)P§Adjusted P value OR (95% CI) Cases N (%)Controls N (%)P§Adjusted P value OR (95% CI)
H→H1G3010A107 (25%)135 (32%)0.047 **0.5400.73 (0.44–1.00)64 (21%)45 (15%)0.0720.6891.48 (0.95–2.31)
U→U5T3197C34 (7%)22 (4%)0.0990.8251.61 (0.89–2.93)22 (7%)8 (2%)0.015 **0.1782.72 (1.14–7.18)0.0526
H6→H6a/H→H17G3915A8 (1%)10 (2%)0.6421.0000.78 (0.27–2.23)5 (1%)5 (1%)1.0001.0000.98 (0.22–4.29)
H→H4C3992T7 (1%)6 (1%)1.0001.0001.15 (0.33–4.18)3 (1%)2 (0%)1.0001.0001.48 (0.17–17.9)
R→JTT4216C81 (17%)81 (17%)0.9311.0000.98 (0.69–1.39)55 (18%)62 (21%)0.5341.0000.87 (0.57–1.33)0.99
H5→H5aT4336C11 (2%)14 (3%)0.5481.0000.76 (0.31–1.84)2 (0%)2 (0%)1.0001.0000.98 (0.07–13.6)0.99
N→IA4529T10 (2%)7 (1%)0.6261.0001.40 (0.48–4.38)4 (1%)0 (0%)0.1240.8520.86
HV0a→VG4580A16 (3%)20 (4%)0.4991.0000.77 (0.37 1.60)8 (2%)2 (0%)0.1070.7944.00 (0.79 38.9)1
H2a→H2A4769G452 (97%)447 (98%)0.3280.9970.55 (0.17 1.64)302 (100%)295 (100%)1.0001.000
H→H7A4793G0 (0%)0 (0%)1.0001.0001 (0%)1 (0%)1.0001.0000.96 (0.01–75.8)
H→H3T6776C39 (8%)42 (9%)0.7271.0000.91 (0.56–1.47)13 (4%)7 (2%)0.2570.9871.82 (0.66–5.46)
H→HVC7028T240 (51%)225 (49%)0.5521.0001.09 (0.83–1.42)208 (68%)217 (73%)0.2810.9920.81 (0.56–1.17)1
N2→WG8994A6 (1%)6 (1%)1.0001.0001.01 (0.27–3.80)3 (1%)5 (1%)0.4991.0000.58 (0.09–3.00)1
U→KG9055A22 (4%)33 (7%)0.1630.9410.65 (0.36–1.18)22 (7%)24 (8%)0.7591.0000.87 (0.45–1.66)0.0057
JT→J/K→K1/N→IA10398G78 (16%)82 (18%)0.6641.0000.93 (0.65–1.32)75 (24%)66 (22%)0.4391.0001.17 (0.79–1.75)0.19
N→MC10400T2 (0%)7 (1%)0.1050.8420.28 (0.03–1.47)6 (1%)3 (1%)0.5051.0001.97 (0.42–12.3)
JT→TT10463C46 (10%)45 (10%)1.0001.0001.01 (0.64–1.60)34 (13%)44 (18%)0.1370.8880.67 (0.40–1.13)
N→L3 *T10873C9 (1%)12 (2%)0.5141.0000.73 (0.27–1.90)33 (10%)25 (8%)0.3350.9961.32 (0.74–2.30)
R0→RG11719A111 (39%)161 (44%)0.1710.9520.80 (0.57–1.11)186 (63%)201 (71%)0.0540.5180.70 (0.49–1.01)
R→UA12308G80 (17%)80 (17%)0.9311.0000.98 (0.68–1.39)88 (29%)112 (37%)0.019 **0.2130.66 (0.46–0.94)1
R→NC12705T35 (8%)29 (6%)0.5191.0001.19 (0.69–2.06)45 (14%)35 (11%)0.3370.9961.29 (0.78–2.14)
R→JG13708A34 (8%)41 (9%)0.7171.0000.90 (0.54–1.48)27 (9%)18 (6%)0.1530.9091.66 (0.84–3.37)0.267
N→XA13966G8 (1%)4 (0%)0.3850.9991.97 (0.53–9.01)7 (2%)4 (1%)0.5451.0001.73 (0.43–8.12)
HV→R0C14766T198 (42%)189 (41%)0.7381.0001.05 (0.80–1.38)194 (64%)209 (70%)0.1170.8290.75 (0.53–1.08)1
T16519C280 (63%)310 (69%)0.039 **0.4780.74 (0.55–0.99)217 (72%)221 (77%)0.1810.9450.77 (0.52–1.14)0.0366
  • * HG is a proxy for haplogroup status; note that some mutations are characteristic of different phylogenetic pathways. Only the most relevant ones are shown in the table; for instance, A12308G defines haplogroup U, and G9055A leads to subclade haplogroup K; T16519C is too mutationally unstable and does not identify any haplogroup per se.

  • Mutations are referred to in accordance with the revised Cambridge reference sequence (rCRS).

  • P values as reported in ( 1).

  • § P value for Fisher's exact test.

  • Adjustment for multiple testing by permutation (N = 10.000).

  • OR for the variant allele with respect to rCRS; exact 95% CI.

  • ** P < 0.05.