ArticleJAMA psychiatry2017
Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders.
Article in JAMA psychiatry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 40 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Systematic review of mitochondrial genetic variation in attention-deficit/hyperactivity disorder.European child & adolescent psychiatry · 2024Pooled it
- Low frequency mitochondrial DNA heteroplasmy SNPs in blood, retina, and [RPE+choroid] of age-related macular degeneration subjects.PloS one · 2021Trial
- Mitochondrial Haplogroup and the Risk of Acute Kidney Injury Following Cardiac Bypass Surgery.Scientific reports · 2019Trial
- Mitochondrial Dysfunction in Autism and Attention-Deficit/Hyperactivity Disorder: Evidence from Genetic, Biochemical, and Neuroimaging Approaches.Antioxidants (Basel, Switzerland) · 2026Review
- Transcriptomic and phenotypic convergence of neurodevelopmental disorder risk genes in vitro and in vivo.Nature neuroscience · 2026Article
- Dynamic convergence of neurodevelopmental disorder risk genes across neurodevelopment.bioRxiv : the preprint server for biology · 2025Article
- The Potential Protective Role of Mitochondrial Haplogroup R in Ovarian Response: An Exploratory Study.International journal of molecular sciences · 2025Article
- Article
- Autism candidate genebioRxiv : the preprint server for biology · 2024Article
- Mitochondrial DNA Haplogroup K Is Protective Against Autism Spectrum Disorder Risk in Populations of European Ancestry.Journal of the American Academy of Child and Adolescent Psychiatry · 2024Article
- The AMPK-related kinase NUAK1 controls cortical axons branching by locally modulating mitochondrial metabolic functions.Nature communications · 2024Article
- Increased Diabetes Complications in a Mouse Model of Oxidative Stress Due to 'Mismatched' Mitochondrial DNA.Antioxidants (Basel, Switzerland) · 2024Article
- The missing hallmark of health: psychosocial adaptation.Cell stress · 2024Article
- The mitochondrial genome as a modifier of autism versus cancer phenotypes inHGG advances · 2023Article
- Effects of nutritional interventions in children and adolescents with autism spectrum disorder: an overview based on a literature review.International journal of developmental disabilities · 2023Review
- Article
- Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism.Nature communications · 2022Article
- Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.Frontiers in genetics · 2022Article
- Review
Corrections and comments
- Erratum issued
Authors and funding
9 authors.
Funding
Abstract
Importance: Autism spectrum disorders (ASD) are characterized by impairments in social interaction, communication, and repetitive or restrictive behavior. Although multiple physiologic and biochemical studies have reported defects in mitochondrial oxidative phosphorylation in patients with ASD, the role of mitochondrial DNA (mtDNA) variation has remained relatively unexplored. Objective: To assess what impact mitochondrial lineages encompassing ancient mtDNA functional polymorphisms, termed haplogroups, have on ASD risk. Design, Setting, and Participants: In this cohort study, individuals with autism and their families were studied using the Autism Genetic Resource Exchange cohort genome-wide association studies data previously generated at the Children's Hospital of Philadelphia. From October 2010 to January 2017, we analyzed the data and used the mtDNA single-nucleotide polymorphisms interrogated by the Illumina HumanHap 550 chip to determine the mtDNA haplogroups of the individuals. Taking into account the familial structure of the Autism Genetic Resource Exchange data, we then determined whether the mtDNA haplogroups correlate with ASD risk. Main Outcomes and Measures: Odds ratios of mitochondrial haplogroup as predictors of ASD risk. Results: Of 1624 patients with autism included in this study, 1299 were boys (80%) and 325 were girls (20%). Families in the Autism Genetic Resource Exchange collection (933 families, encompassing 4041 individuals: 1624 patients with ASD and 2417 healthy parents and siblings) had been previously recruited in the United States with no restrictions on age, sex, race/ethnicity, or socioeconomic status. Relative to the most common European haplogroup HHV, European haplogroups I, J, K, O-X, T, and U were associated with increased risk of ASD, as were Asian and Native American haplogroups A and M, with odds ratios ranging from 1.55 (95% CI, 1.16-2.06) to 2.18 (95% CI, 1.59-3) (adjusted P < .04). Hence, mtDNA haplogroup variation is an important risk factor for ASD. Conclusions and Relevance: Because haplogroups I, J, K, O-X, T, and U encompass 55% of the European population, mtDNA lineages must make a significant contribution to overall ASD risk.
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