Home > Research > Publications & Outputs > Examining the role of common and rare mitochond...

Electronic data

Links

Text available via DOI:

View graph of relations

Examining the role of common and rare mitochondrial variants in schizophrenia

Research output: Contribution to journalJournal articlepeer-review

Published

Standard

Examining the role of common and rare mitochondrial variants in schizophrenia. / Gonçalves, Vanessa F; Giamberardino, Stephanie N; Crowley, James J; Vawter, Marquis P; Saxena, Richa; Bulik, Cynthia M; Yilmaz, Zeynep; Hultman, Christina M; Sklar, Pamela; Kennedy, James L; Sullivan, Patrick F; Knight, Jo.

In: PLoS ONE, Vol. 13, No. 1, e0191153, 25.01.2018.

Research output: Contribution to journalJournal articlepeer-review

Harvard

Gonçalves, VF, Giamberardino, SN, Crowley, JJ, Vawter, MP, Saxena, R, Bulik, CM, Yilmaz, Z, Hultman, CM, Sklar, P, Kennedy, JL, Sullivan, PF & Knight, J 2018, 'Examining the role of common and rare mitochondrial variants in schizophrenia', PLoS ONE, vol. 13, no. 1, e0191153. https://doi.org/10.1371/journal.pone.0191153

APA

Gonçalves, V. F., Giamberardino, S. N., Crowley, J. J., Vawter, M. P., Saxena, R., Bulik, C. M., Yilmaz, Z., Hultman, C. M., Sklar, P., Kennedy, J. L., Sullivan, P. F., & Knight, J. (2018). Examining the role of common and rare mitochondrial variants in schizophrenia. PLoS ONE, 13(1), [e0191153]. https://doi.org/10.1371/journal.pone.0191153

Vancouver

Gonçalves VF, Giamberardino SN, Crowley JJ, Vawter MP, Saxena R, Bulik CM et al. Examining the role of common and rare mitochondrial variants in schizophrenia. PLoS ONE. 2018 Jan 25;13(1). e0191153. https://doi.org/10.1371/journal.pone.0191153

Author

Gonçalves, Vanessa F ; Giamberardino, Stephanie N ; Crowley, James J ; Vawter, Marquis P ; Saxena, Richa ; Bulik, Cynthia M ; Yilmaz, Zeynep ; Hultman, Christina M ; Sklar, Pamela ; Kennedy, James L ; Sullivan, Patrick F ; Knight, Jo. / Examining the role of common and rare mitochondrial variants in schizophrenia. In: PLoS ONE. 2018 ; Vol. 13, No. 1.

Bibtex

@article{0e626c31f7774f5f938141da46434e6b,
title = "Examining the role of common and rare mitochondrial variants in schizophrenia",
abstract = "Oxidative phosphorylation within mitochondria is the main source of aerobic energy for neuronal functioning, and the key genes are located in mitochondrial DNA. Deficits in oxidative phosphorylation functioning have been reported for schizophrenia, but efforts in the identification of genetic markers within the mitochondrial DNA that predispose to schizophrenia have been limited. We genotyped a set of mitochondrial SNPs using Illumina HumanExome arrays and tested for association in the Swedish schizophrenia sample (N> 10,000). We developed a novel approach for mitochondrial DNA imputation in order to increase the number of common SNPs available for association analysis. The most significant findings were for the mitochondrial SNPs C15452A (GRCh38.p10; rs527236209; p = 0.007; gene MT-CYB; defining haplogroup JT); A11251G (rs869096886; p = 0.007; gene MT-ND4; defining haplogroup JT), and T4216C (rs1599988; p = 0.008, gene MT-ND1, defining haplogroup R2'JT). We also conducted rare variant burden analyses and obtained a p-value of 0.007. For multimarker haplotypes analysis, the most significant finding was for the J group (OR: 0.86, p = 0.02). We conducted the largest association study of mitochondrial DNA variants and schizophrenia but did not find an association that survived multiple testing correction. Analysis of a larger sample is required and will allow a better understanding of the role of mitochondria in schizophrenia.",
author = "Gon{\c c}alves, {Vanessa F} and Giamberardino, {Stephanie N} and Crowley, {James J} and Vawter, {Marquis P} and Richa Saxena and Bulik, {Cynthia M} and Zeynep Yilmaz and Hultman, {Christina M} and Pamela Sklar and Kennedy, {James L} and Sullivan, {Patrick F} and Jo Knight",
year = "2018",
month = jan,
day = "25",
doi = "10.1371/journal.pone.0191153",
language = "English",
volume = "13",
journal = "PLoS ONE",
issn = "1932-6203",
publisher = "Public Library of Science",
number = "1",

}

RIS

TY - JOUR

T1 - Examining the role of common and rare mitochondrial variants in schizophrenia

AU - Gonçalves, Vanessa F

AU - Giamberardino, Stephanie N

AU - Crowley, James J

AU - Vawter, Marquis P

AU - Saxena, Richa

AU - Bulik, Cynthia M

AU - Yilmaz, Zeynep

AU - Hultman, Christina M

AU - Sklar, Pamela

AU - Kennedy, James L

AU - Sullivan, Patrick F

AU - Knight, Jo

PY - 2018/1/25

Y1 - 2018/1/25

N2 - Oxidative phosphorylation within mitochondria is the main source of aerobic energy for neuronal functioning, and the key genes are located in mitochondrial DNA. Deficits in oxidative phosphorylation functioning have been reported for schizophrenia, but efforts in the identification of genetic markers within the mitochondrial DNA that predispose to schizophrenia have been limited. We genotyped a set of mitochondrial SNPs using Illumina HumanExome arrays and tested for association in the Swedish schizophrenia sample (N> 10,000). We developed a novel approach for mitochondrial DNA imputation in order to increase the number of common SNPs available for association analysis. The most significant findings were for the mitochondrial SNPs C15452A (GRCh38.p10; rs527236209; p = 0.007; gene MT-CYB; defining haplogroup JT); A11251G (rs869096886; p = 0.007; gene MT-ND4; defining haplogroup JT), and T4216C (rs1599988; p = 0.008, gene MT-ND1, defining haplogroup R2'JT). We also conducted rare variant burden analyses and obtained a p-value of 0.007. For multimarker haplotypes analysis, the most significant finding was for the J group (OR: 0.86, p = 0.02). We conducted the largest association study of mitochondrial DNA variants and schizophrenia but did not find an association that survived multiple testing correction. Analysis of a larger sample is required and will allow a better understanding of the role of mitochondria in schizophrenia.

AB - Oxidative phosphorylation within mitochondria is the main source of aerobic energy for neuronal functioning, and the key genes are located in mitochondrial DNA. Deficits in oxidative phosphorylation functioning have been reported for schizophrenia, but efforts in the identification of genetic markers within the mitochondrial DNA that predispose to schizophrenia have been limited. We genotyped a set of mitochondrial SNPs using Illumina HumanExome arrays and tested for association in the Swedish schizophrenia sample (N> 10,000). We developed a novel approach for mitochondrial DNA imputation in order to increase the number of common SNPs available for association analysis. The most significant findings were for the mitochondrial SNPs C15452A (GRCh38.p10; rs527236209; p = 0.007; gene MT-CYB; defining haplogroup JT); A11251G (rs869096886; p = 0.007; gene MT-ND4; defining haplogroup JT), and T4216C (rs1599988; p = 0.008, gene MT-ND1, defining haplogroup R2'JT). We also conducted rare variant burden analyses and obtained a p-value of 0.007. For multimarker haplotypes analysis, the most significant finding was for the J group (OR: 0.86, p = 0.02). We conducted the largest association study of mitochondrial DNA variants and schizophrenia but did not find an association that survived multiple testing correction. Analysis of a larger sample is required and will allow a better understanding of the role of mitochondria in schizophrenia.

U2 - 10.1371/journal.pone.0191153

DO - 10.1371/journal.pone.0191153

M3 - Journal article

C2 - 29370225

VL - 13

JO - PLoS ONE

JF - PLoS ONE

SN - 1932-6203

IS - 1

M1 - e0191153

ER -