Mutations in mtDNA have been implicated in the development of hypertrophic cardiomyopathy (HCM), including cases from families with a maternal transmission. Alleles at several polymorphic sites in mtDNA define different haplogroups and some of these haplogroups have been involved in the risk of developing several diseases in which mitochondria should be involved. We analysed the association between the nine common European haplogroups and HCM. A total of 130 Spanish patients and 300 healthy controls were genotyped for eight mitochondrial single nucleotide polymorphisms (SNPs) through polymerase chain reaction followed by digestion with a restriction enzyme (PCR-RFLP). We compared the frequencies of these polymorphisms and mitochondrial haplogroups between patients and controls. Haplogroup T, specifically defined by 13368A, was significantly involved in the risk of developing HCM in our population (p=0.007; OR=2.42; 95% CI=1.25-4.67). Our data suggest that the genetic variation at the mitochondrial genome could significantly contribute to the risk for HCM.
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