ArticleBMC medical genetics2013
Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study.
Article in BMC medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Association of mitochondrial DNA levels with frailty and all-cause mortality.Journal of molecular medicine (Berlin, Germany) · 2015Pooled it
- Mitochondrial Genetic Diseases and Ophthalmic Manifestations: Molecular Pathophysiology, Genetics, and Clinical Management.International journal of molecular sciences · 2026Review
- The intersection of mitochondria, lipids, and ferroptosis: a new avenue for dry age-related macular degeneration.Apoptosis : an international journal on programmed cell death · 2025Review
- Review
- How "Omics" Studies Contribute to a Better Understanding of Fuchs' Endothelial Corneal Dystrophy.Current issues in molecular biology · 2025Review
- Immunogenetic and Environmental Factors in Age-Related Macular Disease.International journal of molecular sciences · 2024Review
- The role of mitochondrial genes on nuclear gene expression in neovascular age related macular degeneration: analysis of nuclear VEGF gene expression after ranibizumab treatment in cytoplasmic hybrid retinal pigment epithelial cell lines correlated with clinical evolution.International journal of retina and vitreous · 2023Article
- Potential Therapeutic Functions of PU-91 and Quercetin in Personalized Cybrids Derived from Patients with Age-Related Macular Degeneration, Keratoconus, and Glaucoma.Antioxidants (Basel, Switzerland) · 2023Article
- Characterization of the Mitochondrial Genetic Landscape in Abdominal Aortic Aneurysm.Journal of the American Heart Association · 2023Article
- Intracellular complement: Evidence, definitions, controversies, and solutions.Immunological reviews · 2023Review
- Paving the way while playing catch up: mitochondrial genetics in African ancestry primary open-angle glaucoma.Frontiers in ophthalmology · 2023Article
- Differential modulation of cancer-related genes by mitochondrial DNA haplogroups and the STING DNA sensing system.FASEB bioAdvances · 2022Article
- Differential mitochondrial and cellular responses between H vs. J mtDNA haplogroup-containing human RPE transmitochondrial cybrid cells.Experimental eye research · 2022Article
- Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex.Frontiers in genetics · 2022Article
- Vitamin A cycle byproducts explain retinal damage and molecular changes thought to initiate retinal degeneration.Biology open · 2021Article
- Article
- Mitochondrial C3a Receptor Activation in Oxidatively Stressed Epithelial Cells Reduces Mitochondrial Respiration and Metabolism.Frontiers in immunology · 2021Article
- Mitochondria: The Retina's Achilles' Heel in AMD.Advances in experimental medicine and biology · 2021Article
- Macular impairment in mitochondrial diseases: a potential biomarker of disease severity.Scientific reports · 2020Article
- African and Asian Mitochondrial DNA Haplogroups Confer Resistance Against Diabetic Stresses on Retinal Pigment Epithelial Cybrid Cells In Vitro.Molecular neurobiology · 2020Article
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Authors and funding
17 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAge-related macular degeneration (AMD) is the leading cause of vision loss in elderly, Caucasian populations. There is strong evidence that mitochondrial dysfunction and oxidative stress play a role in the cell death found in AMD retinas. The purpose of this study was to examine the association of the Caucasian mitochondrial JTU haplogroup cluster with AMD. We also assessed for gender bias and additive risk with known high risk nuclear gene SNPs, ARMS2/LOC387715 (G > T; Ala69Ser, rs10490924) and CFH (T > C; Try402His, rs1061170).
methodsTotal DNA was isolated from 162 AMD subjects and 164 age-matched control subjects located in Los Angeles, California, USA. Polymerase chain reaction (PCR) and restriction enzyme digestion were used to identify the J, U, T, and H mitochondrial haplogroups and the ARMS2-rs10490924 and CFH-rs1061170 SNPs. PCR amplified products were sequenced to verify the nucleotide substitutions for the haplogroups and ARMS2 gene.
resultsThe JTU haplogroup cluster occurred in 34% (55/162) of AMD subjects versus 15% (24/164) of normal (OR = 2.99; p = 0.0001). This association was slightly greater in males (OR = 3.98, p = 0.005) than the female population (OR = 3.02, p = 0.001). Assuming a dominant effect, the risk alleles for the ARMS2 (rs10490924; p = 0.00001) and CFH (rs1061170; p = 0.027) SNPs were significantly associated with total AMD populations. We found there was no additive risk for the ARMS2 (rs10490924) or CFH (rs1061170) SNPs on the JTU haplogroup background.
conclusionsThere is a strong association of the JTU haplogroup cluster with AMD. In our Southern California population, the ARMS2 (rs10490924) and CFH (rs1061170) genes were significantly but independently associated with AMD. SNPs defining the JTU mitochondrial haplogroup cluster may change the retinal bioenergetics and play a significant role in the pathogenesis of AMD.
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