Key result
Mitochondrial haplogroup H linked to ~86% higher odds of end-stage heart failure.
Why the study?
Mitochondrial haplogroups influence predisposition to ischaemic cardiovascular diseases, prompting examination of how the mitochondrial DNA background influences end-stage HF, transplant-related complications like cardiac allograft vasculopathy, and post-transplant survival.
Do specific mitochondrial DNA haplogroups increase the risk of developing end-stage heart failure, cardiac allograft vasculopathy, or post-transplant mortality in a Spanish heart transplant population?
Case-Control (n=904)
Do specific mitochondrial DNA haplogroups increase the risk of developing end-stage heart failure, cardiac allograft vasculopathy, or post-transplant mortality in a Spanish heart transplant population?
Specific mitochondrial DNA haplogroups act as genetic risk factors for progression to end-stage heart failure (haplogroup H) and post-transplant cardiac allograft vasculopathy (haplogroup Uk) in a Spanish population, though donor haplogroups do not affect post-transplant survival.
Answers are grounded in this paper and cite their sources.
Haplogroup H and Uk associations with HF and CAV are hypothesis-generating; prospective studies needed before clinical adoption.
AIMS: Mitochondrial haplogroups are known to influence individual predisposition to a wide spectrum of metabolic and degenerative diseases, including ischaemic cardiovascular diseases. We have examined the influence of the mitochondrial DNA (mtDNA) background on the development of human end-stage heart failure (HF) in patients undergoing heart transplantation. The influence of mtDNA haplogroups on the incidence of transplant-related complications, mainly cardiac allograft vasculopathy (CAV), and on post-transplant survival was also studied. METHODS AND RESULTS: The most common mitochondrial haplogroups in European populations were genotyped in 450 heart transplant recipients, 248 heart transplant donors, and 206 healthy controls. Mitochondrial haplogroups were determined by PCR amplification of short mtDNA fragments, followed by restriction fragment length polymorphism analysis. After adjustment for age and sex the frequency of haplogroup H was significantly higher in heart transplant recipients than in controls [OR: 1.86 (95% confidence intervals, CI: 1.27-2.74), P= 0.014], and in heart donors [OR: 1.47 (95% CI: 0.99-2.19), P= 0.032]. Likewise, haplogroup Uk was found significantly more frequently among CAV patients than in non-CAV heart allograft recipients [OR: 4.1 (95% CI: 1.51-11.42), P= 0.042]. Finally, heart donor haplogroups had no influence on the morbidity or mortality after heart transplantation. CONCLUSIONS: Mitochondrial haplogroups behave like risk factors for the progress to end-stage HF in a Spanish cardiac transplant population. Mitochondrial DNA variants may have some influence on the appearance of cardiac transplant complications.
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Gallardo et al. (2011) conducted a case-control in End-stage heart failure and cardiac allograft vasculopathy in heart transplant recipients (n=904). Mitochondrial DNA haplogroups (specifically haplogroup H and haplogroup Uk) vs. Healthy controls, heart transplant donors, and non-CAV heart allograft recipients was evaluated on End-stage heart failure requiring heart transplantation (associated with haplogroup H vs. healthy controls) (OR 1.86, 95% CI 1.27-2.74, p=0.014). Mitochondrial haplogroup H increased the odds of end-stage heart failure vs healthy controls (OR 1.86, 95% CI 1.27-2.74, P=0.014), while haplogroup Uk increased CAV risk (OR 4.1, P=0.042).
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