No consistent evidence for association between mtDNA variants and Alzheimer disease

G Hudson; R Sims; D Harold; J Chapman; P Hollingworth; A Gerrish; G Russo; M Hamshere; V Moskvina; N Jones; C Thomas; A Stretton; P A Holmans; M C O'Donovan; M J Owen; J Williams; P F Chinnery; GERAD1 Consortium; Patrick Kehoe

doi:10.1212/WNL.0b013e31824e8f1d

No consistent evidence for association between mtDNA variants and Alzheimer disease

G Hudson, R Sims, D Harold, J Chapman, P Hollingworth, A Gerrish, G Russo, M Hamshere, V Moskvina, N Jones, C Thomas, A Stretton, P A Holmans, M C O'Donovan, M J Owen, J Williams, P F Chinnery, GERAD1 Consortium, Patrick Kehoe

Research output: Contribution to journal › Article (Academic Journal) › peer-review

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Abstract

OBJECTIVE: Although several studies have described an association between Alzheimer disease (AD) and genetic variation of mitochondrial DNA (mtDNA), each has implicated different mtDNA variants, so the role of mtDNA in the etiology of AD remains uncertain.

METHODS: We tested 138 mtDNA variants for association with AD in a powerful sample of 4,133 AD case patients and 1,602 matched controls from 3 Caucasian populations. Of the total population, 3,250 case patients and 1,221 elderly controls met the quality control criteria and were included in the analysis.

RESULTS: In the largest study to date, we failed to replicate the published findings. Meta-analysis of the available data showed no evidence of an association with AD.

CONCLUSION: The current evidence linking common mtDNA variations with AD is not compelling.

Original language	English
Pages (from-to)	1038-42
Number of pages	5
Journal	Neurology
Volume	78
Issue number	14
DOIs	https://doi.org/10.1212/WNL.0b013e31824e8f1d
Publication status	Published - 3 Apr 2012

Keywords

Alzheimer Disease
Cohort Studies
DNA, Mitochondrial
Genetic Association Studies
Genetic Variation
Humans
Polymorphism, Single Nucleotide

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Hudson, G., Sims, R., Harold, D., Chapman, J., Hollingworth, P., Gerrish, A., Russo, G., Hamshere, M., Moskvina, V., Jones, N., Thomas, C., Stretton, A., Holmans, P. A., O'Donovan, M. C., Owen, M. J., Williams, J., Chinnery, P. F., GERAD1 Consortium, & Kehoe, P. (2012). No consistent evidence for association between mtDNA variants and Alzheimer disease. Neurology, 78(14), 1038-42. https://doi.org/10.1212/WNL.0b013e31824e8f1d

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title = "No consistent evidence for association between mtDNA variants and Alzheimer disease",

abstract = "OBJECTIVE: Although several studies have described an association between Alzheimer disease (AD) and genetic variation of mitochondrial DNA (mtDNA), each has implicated different mtDNA variants, so the role of mtDNA in the etiology of AD remains uncertain.METHODS: We tested 138 mtDNA variants for association with AD in a powerful sample of 4,133 AD case patients and 1,602 matched controls from 3 Caucasian populations. Of the total population, 3,250 case patients and 1,221 elderly controls met the quality control criteria and were included in the analysis.RESULTS: In the largest study to date, we failed to replicate the published findings. Meta-analysis of the available data showed no evidence of an association with AD.CONCLUSION: The current evidence linking common mtDNA variations with AD is not compelling.",

keywords = "Alzheimer Disease, Cohort Studies, DNA, Mitochondrial, Genetic Association Studies, Genetic Variation, Humans, Polymorphism, Single Nucleotide",

author = "G Hudson and R Sims and D Harold and J Chapman and P Hollingworth and A Gerrish and G Russo and M Hamshere and V Moskvina and N Jones and C Thomas and A Stretton and Holmans, {P A} and O'Donovan, {M C} and Owen, {M J} and J Williams and Chinnery, {P F} and {GERAD1 Consortium} and Patrick Kehoe",

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doi = "10.1212/WNL.0b013e31824e8f1d",

language = "English",

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Hudson, G, Sims, R, Harold, D, Chapman, J, Hollingworth, P, Gerrish, A, Russo, G, Hamshere, M, Moskvina, V, Jones, N, Thomas, C, Stretton, A, Holmans, PA, O'Donovan, MC, Owen, MJ, Williams, J, Chinnery, PF, GERAD1 Consortium & Kehoe, P 2012, 'No consistent evidence for association between mtDNA variants and Alzheimer disease', Neurology, vol. 78, no. 14, pp. 1038-42. https://doi.org/10.1212/WNL.0b013e31824e8f1d

TY - JOUR

T1 - No consistent evidence for association between mtDNA variants and Alzheimer disease

AU - Hudson, G

AU - Sims, R

AU - Harold, D

AU - Chapman, J

AU - Hollingworth, P

AU - Gerrish, A

AU - Russo, G

AU - Hamshere, M

AU - Moskvina, V

AU - Jones, N

AU - Thomas, C

AU - Stretton, A

AU - Holmans, P A

AU - O'Donovan, M C

AU - Owen, M J

AU - Williams, J

AU - Chinnery, P F

AU - GERAD1 Consortium

AU - Kehoe, Patrick

PY - 2012/4/3

Y1 - 2012/4/3

N2 - OBJECTIVE: Although several studies have described an association between Alzheimer disease (AD) and genetic variation of mitochondrial DNA (mtDNA), each has implicated different mtDNA variants, so the role of mtDNA in the etiology of AD remains uncertain.METHODS: We tested 138 mtDNA variants for association with AD in a powerful sample of 4,133 AD case patients and 1,602 matched controls from 3 Caucasian populations. Of the total population, 3,250 case patients and 1,221 elderly controls met the quality control criteria and were included in the analysis.RESULTS: In the largest study to date, we failed to replicate the published findings. Meta-analysis of the available data showed no evidence of an association with AD.CONCLUSION: The current evidence linking common mtDNA variations with AD is not compelling.

AB - OBJECTIVE: Although several studies have described an association between Alzheimer disease (AD) and genetic variation of mitochondrial DNA (mtDNA), each has implicated different mtDNA variants, so the role of mtDNA in the etiology of AD remains uncertain.METHODS: We tested 138 mtDNA variants for association with AD in a powerful sample of 4,133 AD case patients and 1,602 matched controls from 3 Caucasian populations. Of the total population, 3,250 case patients and 1,221 elderly controls met the quality control criteria and were included in the analysis.RESULTS: In the largest study to date, we failed to replicate the published findings. Meta-analysis of the available data showed no evidence of an association with AD.CONCLUSION: The current evidence linking common mtDNA variations with AD is not compelling.

KW - Alzheimer Disease

KW - Cohort Studies

KW - DNA, Mitochondrial

KW - Genetic Association Studies

KW - Genetic Variation

KW - Humans

KW - Polymorphism, Single Nucleotide

U2 - 10.1212/WNL.0b013e31824e8f1d

DO - 10.1212/WNL.0b013e31824e8f1d

M3 - Article (Academic Journal)

C2 - 22442439

VL - 78

SP - 1038

EP - 1042

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 14

ER -

No consistent evidence for association between mtDNA variants and Alzheimer disease

Abstract

Keywords

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