Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample

Liu, Ebony; Kaidonis, Georgia; Gillies, Mark C; Abhary, Sotoodeh; Essex, Rohan W.; Chang, John H; Pal, Bishwanath; Daniell, Mark; Lake, Stewart; Gilhotra, Jolly; Petrovsky, Nikolai; Hewitt, Alex W.; Jenkins, Alicia J.; Lamoureux, Ecosse L.; Gleadle, Jonathan; Burdon, Kathryn P.; Craig, Jamie E

doi:10.1038/s41598-018-37388-8

Cited by 4 publications

(3 citation statements)

References 32 publications

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“…73 A larger more recent study looking at the same haplotypes failed to show that association. 74 Another genetic study evaluated patients with type 2 diabetes who were carriers of the HMGA1 rs139876191 variant. Patients with this variant had a significantly lower risk of developing PDR compared with noncarrier diabetic patients.…”

Section: P71mentioning

confidence: 99%

Diabetic Retinopathy Preferred Practice Pattern®

et al. 2020

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Section: P71mentioning

confidence: 99%

Diabetic Retinopathy Preferred Practice Pattern®

et al. 2020

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“…This indicates an association between retinopathy and haplogroups of the macrohaplogroup R (H, J, T, and UK). However, two more statistically powerful studies failed to find similar associations (41,42).…”

Section: Nuclear‐mitochondrial Compatibility/incompatibilitymentioning

confidence: 99%

Mitochondrial genome variations, mitochondrial‐nuclear compatibility, and their association with metabolic diseases

Ludwig-Słomczyńska

Rehm

2022

Obesity

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INTRODUC TI ON Origin, structure of, and protein coding by the mitochondrial genomeAround 2 to 3 billion years ago, the rise in atmospheric oxygen (i.e., the "Great Oxygen Event") altered the atmospheric conditions on the earth. At this time, the class of α-proteobacteria acquired the ability to use oxygen for energy production (1). Through uptake into and endosymbiosis with a host microorganism, eventually mitochondria developed as novel organelles that are typically found in all eukaryotes today. As the symbiotic relationship matured, the majority of endosymbiont genes transferred into the host nucleus (endosymbiotic gene transfer), whereas mitochondria today still retain control over crucial genes essential for mitochondrial energy production (2).The mitochondrial genome encodes only 37 genes. Among these, 13 code for polypeptides, 2 code for ribosomal RNAs (rRNAs) (12S and 16S), and 22 code for transfer RNAs (tRNAs) necessary for mitochondrial protein synthesis. All mRNAs code for subunits of the multiprotein complexes involved in mitochondrial oxidative phosphorylation. Mitochondrially encoded NADH dehydrogenase (mt-ND1, mt-ND2, mt-ND3, mt-ND4, mt-ND4L, mt-ND5, and mt-ND6) codes for seven out of forty-six polypeptides that compose complex I. Mitochondrially encoded cytochrome b (mt-CYB) is one of 11 polypeptides necessary to form complex III. Mitochondrially encoded cytochrome c oxidase (mt-CO1 , mt-CO2, and mt-CO3), along with 10 other nuclear-coded polypeptides,

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“…Thus, mtDNA has many effects, including adaptive mechanisms to deal with environmental changes and mechanisms related to cellular physiology, growth characteristics and inflammatory systems. All the abovementioned actions have a great impact on a broad range of metabolic and degenerative diseases, such as cancer, diabetes, and aging, which are related to polymorphisms and mutations in these genes [11][12][13][14].…”

Section: Introductionmentioning

confidence: 99%

A pilot study of mitochondrial genomic ancestry in admixed Brazilian patients with type 1 diabetes

Ferreira,

Gonçalves,

Adiala

et al. 2024

Diabetol Metab Syndr

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Interactions between multiple genes and environmental factors could be related to the pathogenesis of type 1 diabetes (T1D). The Brazilian population results from different historical miscegenation events, resulting in a highly diverse genetic pool. This study aimed to analyze the mtDNA of patients with T1D and to investigate whether there is a relationship between maternal ancestry, self-reported color and the presence of T1D. The mtDNA control region of 204 patients with T1D residing in three geographic regions of Brazil was sequenced following the International Society for Forensic Genetics (ISFG) recommendations. We obtained a frequency of Native American matrilineal origin (43.6%), African origin (38.2%), and European origin (18.1%). For self-declared color, 42.6% of the patients with diabetes reported that they were White, 50.9% were Brown, and 5.4% were Black. Finally, when we compared the self-declaration data with maternal ancestral origin, we found that for the self-declared White group, there was a greater percentage of haplogroups of Native American origin (50.6%); for the self-declared Black group, there was a greater percentage of African haplogroups (90.9%); and for the Brown group, there was a similar percentage of Native American and African haplogroups (42.3% and 45.2%, respectively). The Brazilian population with diabetic has a maternal heritage of more than 80% Native American and African origin, corroborating the country’s colonization history.

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Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample

Cited by 4 publications

References 32 publications

Diabetic Retinopathy Preferred Practice Pattern®

Diabetic Retinopathy Preferred Practice Pattern®

Mitochondrial genome variations, mitochondrial‐nuclear compatibility, and their association with metabolic diseases

A pilot study of mitochondrial genomic ancestry in admixed Brazilian patients with type 1 diabetes

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