Mitochondrial J haplogroup is associated with lower blood pressure and anti-oxidant status: findings in octo/nonagenarians from the BELFAST Study

Rea, Irene Maeve; McNerlan, Susan E.; Archbold, G. P. R.; Middleton, Derek; Curran, Martin D.; Ross, Owen A.

doi:10.1007/s11357-012-9444-4

Cited by 17 publications

(7 citation statements)

References 61 publications

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“…Haplogroup JT has been associated with diverse phenotypes, including improved outcomes following a diagnosis of sepsis (Lorente et al, 2013(Lorente et al, , 2016, reduced risk of diminished ovarian reserve (May-Panloup et al, 2014), and reduced risk of Parkinson disease (Hudson , 2013). In one study of octo/nonagenarians, individuals with haplogroup J had lower systolic blood pressure and glutathione peroxidase activity (Rea et al, 2013). Finally, haplogroup J has been associated with longevity in multiple European populations (De Benedictis et al, 1999;Niemi et al, 2003).…”

Section: Discussionmentioning

confidence: 99%

Association Between Mitochondrial DNA Haplogroup and Myelodysplastic Syndromes

Poynter

Richardson

Langer

et al. 2015

Blood

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Polymorphisms in mitochondrial DNA (mtDNA) are used to group individuals into haplogroups reflecting human global migration and are associated with multiple diseases, including cancer. Here, we evaluate the association between mtDNA haplogroup and risk of myelodysplastic syndromes (MDS). Cases were identified by the Minnesota Cancer Surveillance System. Controls were identified through the Minnesota State driver's license/identification card list. Because haplogroup frequencies vary by race and ethnicity, we restricted analyses to non-Hispanic whites. We genotyped 15 mtSNPs that capture common European mitochondrial haplogroup variation. We used SAS v.9.3 (SAS Institute, Cary, NC) to calculate odds ratios (OR) and 95% confidence intervals (CI) overall and stratified by MDS subtype and IPSS-R risk category. We were able to classify 215 cases with confirmed MDS and 522 controls into one of the 11 common European haplogroups. Due to small sample sizes in some subgroups, we combined mt haplogroups into larger bins based on the haplogroup evolutionary tree, including HV (H 1 V), JT (J 1 T), IWX (I 1 W 1 X), UK (U 1 K), and Z for comparisons of cases and controls. Using haplogroup HV as the reference group, we found a statistically significant association between haplogroup JT and MDS (OR 5 0.58, 95% CI 0.36, 0.92, P 5 0.02). No statistically significant heterogeneity was observed in subgroup analyses. In this population-based study of MDS, we observed an association between mtDNA haplogroup JT and risk of MDS. While previously published studies provide biological plausibility for the observed association, further studies of the relationship between mtDNA variation and MDS are warranted in larger sample sizes.

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Section: Discussionmentioning

confidence: 99%

Association Between Mitochondrial DNA Haplogroup and Myelodysplastic Syndromes

Poynter

Richardson

Langer

et al. 2015

Blood

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“…Different mitochondrial haplogroups were signi cantly related to blood pressure and cardiovascular diseases. In northern Europe, blood pressure level of haplogroup J is 5 mm lower than that of nonhaplogroup J per 100 mm Hg [32]. In Spain, for patients with hypertrophic cardiomyopathy (HCM), haplogroup T was related to development of HCM [33].…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial DNA Mutations Associated with Essential Hypertension in Xin Jiang Han Chinese Population

Jiang

Lü²,

et al. 2020

Preprint

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Background: Genetic factors contribute to essential hypertension (EH) etiology, however, causal genes haven’t been identified. Mitochondrial dysfunction is common in EH. However, evidence supporting mitochondrial DNA (mtDNA) mutation involved in EH in Chinese Han is lacking. We aimed to characterize relationship between mtDNA mutation and EH in China.Methods: Totally 216 individuals including 151 EH patients and 65 controls from Chinese Han population in Xinjiang were sequenced for whole mtDNA genome. Novel variations and haplogroups were identified for each mtDNA sequence. Frequencies of gene mutations were compared between cases and controls, and functional changes of mtDNA genes associated with EH were predicted.Results: Haplogroups of Chinese Han population in Xinjiang were consistent with those in northern China. No association of mitochondrial haplogroup with EH was observed. Nine novel variations and three EH-associated mutations were identified. Variants in mutation m.12361A>G, m15662A>G and m.1598G>A were predicted to affect functions of ND5, CYTB and 12S rRNA, respectively.Conclusions: Our results have provided a new clue for mitochondrial genetic characteristics in etiology of EH in Chinese Han population in Xinjiang.

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“…single-nucleotide polymorphisms, [SNPs], and structural variants) in relation to cardiometabolic risk factors. MtDNA haplogroups have also been analysed in relation to coronary artery disease ( Kofler et al, 2009 , Chinnery et al, 2010 ), diabetes ( Chinnery et al, 2007 ), lipid profiles ( Hulgan et al, 2011 ), blood pressure ( Rea et al, 2013 ), obesity ( Nardelli et al, 2013 ), CRP ( Kofler et al, 2009 ), and many others ( Samuels et al, 2006 ), but consensus amongst findings is limited, and well-powered studies are needed to detect these effects ( Samuels et al, 2006 ). Accordingly, very large studies have had success in replicating certain associations between mtDNA SNPs (and haplogroups) and age-related disease ( Hudson et al, 2014 ).…”

Section: Discussionmentioning

confidence: 99%

Cardiometabolic phenotypes and mitochondrial DNA copy number in two cohorts of UK women

et al. 2018

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The mitochondrial genome is present at variable copy number between individuals. Mitochondria are vulnerable to oxidative stress, and their dysfunction may be associated with cardiovascular disease.The association of mitochondrial DNA copy number with cardiometabolic risk factors (lipids, glycaemic traits, inflammatory markers, anthropometry and blood pressure) was assessed in two independent cohorts of European origin women, one in whom outcomes were measured at mean (SD) age 30 (4.3) years (N = 2278) and the second at 69.4 (5.5) years (N = 2872). Mitochondrial DNA copy number was assayed by quantitative polymerase chain reaction. Associations were adjusted for smoking, sociodemographic status, laboratory factors and white cell traits.Out of a total of 12 outcomes assessed in both cohorts, mitochondrial DNA copy number showed little or no association with the majority (point estimates were close to zero and nearly all p-values were > 0.01). The strongest evidence was for an inverse association in the older cohort with insulin (standardised beta [95%CI]: − 0.06, [− 0.098, − 0.022], p = 0.002), but this association did not replicate in the younger cohort.Our findings do not provide support for variation in mitochondrial DNA copy number having an important impact on cardio-metabolic risk factors in European origin women.

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Mitochondrial J haplogroup is associated with lower blood pressure and anti-oxidant status: findings in octo/nonagenarians from the BELFAST Study

Cited by 17 publications

References 61 publications

Association Between Mitochondrial DNA Haplogroup and Myelodysplastic Syndromes

Association Between Mitochondrial DNA Haplogroup and Myelodysplastic Syndromes

Mitochondrial DNA Mutations Associated with Essential Hypertension in Xin Jiang Han Chinese Population

Cardiometabolic phenotypes and mitochondrial DNA copy number in two cohorts of UK women

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