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. Author manuscript; available in PMC: 2020 Oct 1.
Published in final edited form as: Neurochem Int. 2019 Jun 21;129:104495. doi: 10.1016/j.neuint.2019.104495

Table 2.

Summary of mtDNA haplogroup association studies in Parkinson’s disease

Ethnicity (Ancestry) Study participants N Multiple-Test Correction Estimates of statistical power determined Outcome/ Main findings Reference
American (European) Cases 609 NS NS Haplogroups J (P = 0,02) and K (P = 0,02) associated with reduced PD risk. SNP m.10398A>G was reported to be protective against PD (P = 0,0001). SNP m.9055G>A in MT-ATP6 reduced PD risk in women (P = 0,03). SNP m.13708G>A reduced PD risk in individuals > 70 years of age (P = 0,010). [73]
Controls 340
Irish (European) Cases 90 Yes (Bonferroni correction) NS No significant association between haplogroup J and PD found. SNP m.4216T>C, in linkage with mtDNA TJ cluster, was associated with increased PD risk (P = 0,014). [77]
Controls 129
Finnish (European) Cases (PD) 210 NS NS Supercluster JTWIX was associated with an increased risk of PD (P = 0,27) and PD with dementia (PDD) (P = 0,18). [78]
Cases (PD) 28
Controls 104
Spanish from Asturias, Northern Spain (European) Cases 271 Yes (Bonferroni correction) NS No Haplogroups were associated with PD risk. SNP m.4336T>C associated with increased PD risk only in females (P = 0,011). SNP m.10398A>G was protective against PD (P = 0,009). [75]
Controls 230
English (European) Cases 455 NS NS Haplogroups J and K not significantly associated with reduced PD risk. UKJT cluster reduced PD risk (P < 0,0001). [72]
Control group 1 269
Control group 2 (Birth cohort) 178
Control group 3 (Post-mortem brain tissue from AD patients) 185
Italian (European) Cases 620 NS NS Haplogroup K (P = 0,048) but not J associated with reduced PD risk. SNP m.10398A>G did not significantly alter PD risk. [68]
Control group 1 (CT1) 1486
Control group 2 (CT2) 509
Taiwanese (Asian) Cases 416 Yes (Bonferroni correction) NS No haplogroups associated with PD risk. [81]
Controls 372
Polish from central, South and north-Western Poland (European) Cases 241 NS Yes Haplogroup J (P = 0,0014) associated with reduced PD risk in males (after stratification by gender). Sub-lineages U4 +U5a1 + K+J1c + J2 also reduced PD risk (P = 0,027). SNP m.10398A>G did not significantly alter PD risk. [66]
Controls 277
Cases for gender Stratified haplogroup J analysis 304
Controls 316
Additional cases for haplogroup K analysis 91
Additional controls for haplogroup K analysis 137
Greek from Crete (European) Cases 224 NS NS No haplogroups associated with PD risk. SNP m.10398A>G did not significantly alter PD risk. [76]
Controls 383
Russian, Tatar (European) Cases 157 NS NS Haplogroup H associated with an increased PD risk (P = 0,0001). UK cluster associated with a decreased PD risk (P = 0,003). [70]
Controls 183
Australian from New South Wales and Queensland (European) Cases 890 NS Yes No significant associations between PD risk and haplogroups J and K found, nor the pooled UJKT haplogroup cluster. [71]
Controls 3491
English (European) Cases (Discovery phase) 1719 NS Yes Association study: No association between haplogroups and PD nor SNP m.10398A>G and PD. Super-haplogroup JT was associated with a protective effect against PD (P = 0,0354). Mitochondrial variants m.2158T>C (discovery: P = 0,024; replication: P = 0,0245) and m.11251A>G (discovery: P = 0,0292; replication: P = 0,0012) were associated with a reduced risk of PD in both the discovery and replication cohorts. Meta-analysis: Haplogroups J (P = 0,0122), K (P = 0,00363), T (P = 0,0245) and super-haplogroup JT (P = 0,000584) associated with reduced PD risk. Increased PD risk was associated with cluster HV (P = 0,00364). [69]
Controls (Discovery phase) 2889
Cases (Replication phase) 851
Controls (Replication phase) 2717
Cases (Meta-Analysis) 6140
Controls (Meta-Analysis) 13280
Spanish from Pamplona, North-East Spain (European) Cases 478 Yes (NS) NS No haplogroups were associated with PD risk [74]
Controls 394
Spanish from Santiago de Compostela, North-West Spain (European) Cases 305
Controls 293
Han Chinese from Southern China (Asian) Cases (Total) 279 NS NS Overall, no association between haplogroups and PD. Haplogroup B (P =0,004) associated with a lower risk for EOPD in individuals younger than 50 years (after age stratification,). Haplogroup D associated with a higher risk of PD (P = 0,033) and Haplogroup B was associated with a lower risk of PD (P = 0,018) in individuals younger than 50. [82]
EOPD (<50) 63
LOPD (>50) 216
Controls (Total) 510
Control Team 1 118
Controls 332
Han Chinese from Northern China (Asian) Cases 322 Yes (Bonferroni correction) NS SNP m.10398A>G (P = 0,001) significantly associated with increased PD risk in females (P = 0,0036). [173]
Taiwanese (Asian) Cases 725 Yes (Bonferroni correction) NS Haplogroup B5 associated with a reduced PD risk (P = 0,002). [80]
Controls 744
Greek from Cypriot (European) Cases 230 Yes (Bonferroni correction) NS Haplogroup U associated with reduced PD risk (P =0,03), supercluster LMN (P = 0,01) and cluster N(xR) (P = 0,006) were significantly protective against PD in females. [67]
Controls 457
Han Chinese from East China (Asian) Cases 500 NS NS D-loop-sequencing: SNPs m.151T>C (P = 0,023), m.189G>A (P = 0,03), m.16086C>T (P = 0,007 and m.16271C>T (P = 0,0497) were associated with increased PD risk. SNPs m.318C>T and m.16134T>C (P = 0,022) were associated with decreased PD risk. Haplogroup A5 (P = 0,039) was associated with increased PD risk. Haplogroup B5 (P = 0,068) was associated with a reduced disease risk. Meta-analysis: Haplogroup B5, but not B4, was protective against PD (P = 0,0003). Haplogroup G not associated with PD (P = 0,09). [79]
Controls 505

AD = Alzheimer’s disease; EOPD = Early onset Parkinson’s disease; LOPD = Late onset Parkinson’s diseas e; mtDNA = Mitochondrial DNA; N = sample size; NA = Not Applicable; NS = Not specified; PDD = Parkinson’s disease with dementia; PD = Parkinson’s disease