Gene products encoded by the L-strand are shown in the inner circle (one letter code) while the products of the H-strand are shown in the outer circle. For a deeper insight of the role of mtDNA variants in ischemic stroke, the full-sequencing of the molecule and the replication of the same polymorphisms in a large, well-matched, independent dataset are mandatory. The seven complex I subunits (ND1, 2, 3, 4L, 4, 5 and 6), one complex III subunit (Cyt b), three complex IV subunits (COI, COII, and COIII), two complex V subunits (ATPases 6 and 8), two ribosomal RNAs (12S and 16S rRNAs), 22 tRNAs and D-loop regions are shown. Terms and Conditions, In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup Helena. Google Scholar��. To adjust the association analysis for confounding factors, age-at-examination, hypertension, diabetes and ever smoking were included as covariates in multivariate logistic regression with backward elimination of risk factors. CAS�� 1998, 44: 349-10.1159/000022041. 10.1016/S0006-291X(05)80860-5. Hum Genet. The defining mutation in haplogroup H5A was shown to have the highest predisposition risk for late onset Alzheimer’s disease (Santoro et al, 2005). Am J Hum Genet. 10.1016/j.exger.2006.03.010. Viking genes in Northern England project Part 1 - Wirral and West Lancashire (2002-2008) Part 2 - North Lancashire, Cumbria and N. Yorks (2009-2013) Particular combinations of certain polymorphisms define mitochondrial haplogroups and subclades (Table 1), which tend to be associated to broad geographic areas and/or populations [3]. PubMed Central�� Nishigaki Y, Yamada Y, Fuku N, Matsuo H, Segawa T, Watanabe S, Kato K, Yokoi K, Yamaguchi S, Nozawa Y, Tanaka M: Mitochondrial haplogroup N9b is protective against myocardial infarction in Japanese males. Cakir Y, Yang Z, Knight CA, Pompilius M, Westbrook D, Bailey SM, Pinkerton KE, Ballinger SW: Effect of alcohol and tobacco smoke on mtDNA damage and atherogenesis. Macaulay V, Richards M, Hickey E, Vega E, Cruciani F, Guida V, Scozzari R, Bonn챕-Tamir B, Sykes B, Torroni A: The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs. Since some of the markers are in linkage disequilibrium and the haplogroup comparisons are not independent, we did not perform corrections for multiple testing and uncorrected p-values are reported. BMC Bioinformatics. 10.1086/303040. Haplogroups I, J1c, J2, K1a, U4, U5a1 … 2003, 113: 432-436. Trends Genet. Pulkes T, Sweeney MG, Hanna MG: Increased risk of stroke in patients with the A12308G polymorphism in mitochondria. Torroni A, Achilli A, Macaulay V, Richards M, Bandelt HJ: Harvesting the fruit of the human mtDNA tree. 10.1016/j.mito.2006.11.002. Much larger cohorts are required for less common clades or finer changes in haplogroup frequency, and therefore the present study provides preliminary evidence of association that requires further validation in independent cohorts. BMC Genet. The clade is believed to have originated in Southwest Asia, near present day Syria, around 20,000 to 25,000 years ago. Nature. We did not study the association of mtDNA with stroke subtypes since a much larger sample size would be required to have a representative number of individuals in each subtype and haplogroup category. 10.1002/ajpa.10168. Majamaa K, Finnil채 S, Turkka J, Hassinen IE: Mitochondrial DNA haplogroup U as a risk factor for occipital stroke in migraine. Interestingly, the phylogenetic background of haplogroup J influences the clinical penetrance and expression of the m.11778G>A and m.14484T>C primary LHON mutations [9, 10]. If replicated in other populations, these influences on ischemic stroke risk are a relevant matter of public health given that haplogroups H1, pre-HV/HV, U, and U5 represent about 20% of the European population. They also play a decisive role in intracellular signaling, metabolic pathways such as Krebs' or tricarboxylic acid cycle and the metabolism of amino acids, lipids, cholesterol and steroids. Lancet. PubMed Central�� Like haplogroup B, it only appears in Africa, with the highest frequency among the hunter-gatherer groups in Ethiopia and Sudan [58,61].A3b1 is a Khoisan exclusive haplogroup. An unpaired Student's t test and a ��2 test were used to compare quantitative and qualitative clinical and demographic data, respectively, between cases and controls. 1993, 24: 35-41. BMC Medical Genetics The woman who founded this line lived between 9,000 and 10,800 years ago (Behar et al., … Hum Genet. Mitochondrial haplogroups have also been associated with increased risk of developing various cardiovascular diseases. Famous people's mtDNA listed by haplogroup. Results were considered significant below the conventional level of 0.05. Since these haplogroups are defined by the combination of several polymorphisms also present in other clades (e.g. 10.1534/genetics.105.043901. We are deeply grateful to all study participants and to the genotyping unit at the Instituto Gulbenkian de Ci챗ncia. CAS�� Adams HP, Bendixen BH, Kappelle LJ, Biller J, Love BB, Gordon DL, Marsh EE: Classification of subtype of acute ischemic stroke. Casas JP, Hingorani AD, Bautista LE, Sharma P: Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. Article�� Am J Hum Genet. It first expanded in the northern Near East and Southern Caucasus soon, … King MP, Attardi G: Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. J Neurol Sci. This work was supported in part by the Marie Curie International Reintegration Grant 513760 (SAO), the Marie Curie Intra-European Fellowship 024563 (SAO), the grant PTDC/SAU-GMG/64426/2006 from the Portuguese Funda챌찾o para a Ci챗ncia e a Tecnologia (FCT), FCT fellowships (AR, TK, HM), and fellowships from the Portuguese Instituto do Emprego e Forma챌찾o Profissional (BVF, TK). Okura T, Koda M, Ando F, Niino N, Tanaka M, Shimokata H: Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population. In rats, a reduction in the aerobic capacity is concomitant with a decrease in the amount of proteins required for mitochondrial biogenesis and oxidative function in skeletal muscle, and with an increase in cardiovascular risk factors [46]. In addition, four endurance athletes (6.6%) belonged to haplogroup I, but none of the sprinters. 1996, 144: 1835-1850. Matsunaga H, Tanaka Y, Tanaka M, Gong JS, Zhang J, Nomiyama T, Ogawa O, Ogihara T, Yamada Y, Yagi K, Kawamori R: Antiatherogenic mitochondrial genotype in patients with type 2 diabetes. With mitochondrial DNA, you can at least see some consist pathway in naming practices, meaning H, H1, H1a, etc., so you can tell that you’re on the same branch. AR, BVF, TK, HM, IA and GG generated genotyping data. "Mitochondrial DNA haplogroup K is associated with a lower risk of, parkinson's disease in Italians". Five hundred thirty four unrelated patients with a clinical diagnosis of ischemic stroke, who were under the age of 65 at stroke onset, were recruited through Neurology and Internal Medicine Departments throughout Portugal. The research protocol was approved by the ethics committees of participating institutions, and participants were informed of the study and provided informed consent. PubMed�� This is a list of haplogroups of historic people.Haplogroups can be determined from the remains of historical figures, or derived from genealogical DNA tests of people who trace their direct maternal or paternal ancestry to a noted historical figure. I've found out I've inherited Haplogroup H, specifically H1, H1a, H1aV1, and H4. The two polymorphisms that were found to be associated with elite endurance performance were 16080G that defines haplogroup H12b and 16362C that defines haplogroup H1B1. Pereira L, Prata MJ, Amorim A: Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation. The synonymous m.7028C>T transition is located in the cytochrome c oxidase (COX) subunit I gene (COI) of complex IV. 1998, 62: 241-260. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/9/57/prepub. For people who have tested and are assigned the maternal haplogroup H1 or who are believed to have had that maternal haplogroup based on descendants tested. 1998, 351: 185-186. 10.1016/j.freeradbiomed.2007.07.015. 30.3.1.1 Global distribution of Y haplogroups. Kivisild T, Shen P, Wall DP, Do B, Sung R, Davis K, Passarino G, Underhill PA, Scharfe C, Torroni A, Scozzari R, Modiano D, Coppa A, de Knijff P, Feldman M, Cavalli-Sforza LL, Oefner PJ: The role of selection in the evolution of human mitochondrial genomes. 10.1080/10641960701613852. 10.1196/annals.1293.031. CAS�� Our data suggests that mitochondrial haplogroup H1 has an impact on ischemic stroke risk in a Portuguese sample. Cookies policy. The Comprehensive R Archive Network. Let’s focus here on mitochondrial DNA haplogroup is H1, as it is the Genographic Project’s most common maternal lineage result. Data was also collected on relevant lifestyle aspects and previous clinical risk factors. Logistic regressions were performed using the R freeware [28]. This syndrome is caused by the m.3243A>G mutation, an A to G transition at mtDNA nucleotide position 3243 [6, 7]. 2000, 64: 491-506.
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