Association Study of Common Mitochondrial Variants and Cognitive Ability

Byrne, EM, McRae, AF, Duffy, DL, Zhao, ZZ, Martin, NG, Wright, MJ, Montgomery, GW and Visscher, PM (2009) Association Study of Common Mitochondrial Variants and Cognitive Ability. BEHAVIOR GENETICS, 39 5: 504-512. doi:10.1007/s10519-009-9276-x


Author Byrne, EM
McRae, AF
Duffy, DL
Zhao, ZZ
Martin, NG
Wright, MJ
Montgomery, GW
Visscher, PM
Title Association Study of Common Mitochondrial Variants and Cognitive Ability
Journal name BEHAVIOR GENETICS   Check publisher's open access policy
ISSN 0001-8244
Publication date 2009-09-01
Year available 2009
Sub-type Article (original research)
DOI 10.1007/s10519-009-9276-x
Open Access Status DOI
Volume 39
Issue 5
Start page 504
End page 512
Total pages 9
Place of publication United States
Publisher Springer New York LLC
Language eng
Subject C1
Abstract Abstract Mitochondria are central to optimal functioning of the nervous system and disruption of mitochondrial function is known to lead to cognitive impairment. However, there has been little focus on whether common mitochondrial DNA polymorphisms contribute to normal variation in cognitive phenotypes. In this study, we use methodology for carrying out whole mitochondrial association studies in family cohorts to test whether 69 common mitochondrial variants and 10 common European haplogroups are associated with a number of measures of cognition, including information processing, word recognition and general cognitive ability, in a sample of Australian adolescent twins and their singleton/non-twin siblings. With data from 1,385 individuals from 665 families, this is by far the largest mitochondrial association study of cognition undertaken to date. We find that there is no significant evidence that either common European mitochondrial SNPs or haplogroups are associated with variation in cognitive performance. In spite of the associations not reaching significance, several of the most highly associated SNPs are in mitochondrial genes that have previously been identified as potentially playing a role in cognitive performance in mice. These genes warrant further investigation in both functional and association studies with larger cohorts.
Formatted abstract
Abstract Mitochondria are central to optimal functioning of the nervous system and disruption of mitochondrial function is known to lead to cognitive impairment. However, there has been little focus on whether common mitochondrial DNA polymorphisms contribute to normal variation in cognitive phenotypes. In this study, we use methodology for carrying out whole mitochondrial association studies in family cohorts to test whether 69 common mitochondrial variants and 10 common European haplogroups are associated with a number of measures of cognition, including information processing, word recognition and general cognitive ability, in a sample of Australian adolescent twins and their singleton/non-twin siblings. With data from 1,385 individuals from 665 families, this is by far the largest mitochondrial association study of cognition undertaken to date. We find that there is no significant evidence that either common European mitochondrial SNPs or haplogroups are associated with variation in cognitive performance. In spite of the associations not reaching significance, several of the most highly associated SNPs are in mitochondrial genes that have previously been identified as potentially playing a role in cognitive performance in mice. These genes warrant further investigation in both functional and association studies with larger cohorts.
Keyword Mitochondria
QUANTITATIVE-TRAIT LOCUS
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID G0100266
MR/K026992/1
CZD/16/6/4
G0902166
G0700704
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2010 Higher Education Research Data Collection
School of Medicine Publications
 
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Created: Thu, 03 Sep 2009, 17:42:59 EST by Mr Andrew Martlew on behalf of Medicine - Royal Brisbane and Women's Hospital