Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients
| Autor: | Sofia A. Oliveira, Manuel Correia, Rita Moiron Simões, Ilda Matos, Isabel Albergaria, Ricardo Taipa, Helena Manso, João Paulo Gabriel, Gisela Gaspar, Tiago Krug, José M. Ferro, Carla Ferreira, Gabriela Lopes, M. Silva, Miguel Viana-Baptista, A N Pinto, Liliana O. Gouveia, Benedita V Fonseca, Astrid M. Vicente, João Ramalho Fontes, Alexandra Rosa |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Male
Haplogroup Brain Ischemia Doenças Cardio e Cérebro-vasculares 0302 clinical medicine Gene Frequency Risk Factors Odds Ratio Enfarte do miocárdio Genetics(clinical) Stroke Genetics (clinical) Genetics 0303 health sciences Middle Aged 3. Good health Female Research Article Adult lcsh:Internal medicine Mitochondrial DNA lcsh:QH426-470 Genotype Single-nucleotide polymorphism Biology DNA Mitochondrial Polymorphism Single Nucleotide 03 medical and health sciences Estudos de caso-controlo medicine Humans Genetic Predisposition to Disease lcsh:RC31-1245 Allele frequency 030304 developmental biology Chi-Square Distribution Portugal Haplotype Case-control study medicine.disease lcsh:Genetics Logistic Models Haplotypes Factores de risco Case-Control Studies Acidente isquémico transitório 030217 neurology & neurosurgery Human mitochondrial DNA haplogroup |
| Zdroj: | BMC Medical Genetics BMC Medical Genetics, Vol 9, Iss 1, p 57 (2008) |
| ISSN: | 1471-2350 |
| DOI: | 10.1186/1471-2350-9-57 |
| Popis: | Background The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this effect, possibly because only nuclear genes have been intensely investigated so far. Mitochondrial DNA (mtDNA) has been implicated in several disorders having stroke as one of its clinical manifestations. The aim of this case-control study was to assess the contribution of mtDNA polymorphisms and haplogroups to ischemic stroke risk. Methods We genotyped 19 mtDNA single nucleotide polymorphisms (SNPs) defining the major European haplogroups in 534 ischemic stroke patients and 499 controls collected in Portugal, and tested their allelic and haplogroup association with ischemic stroke risk. Results Haplogroup H1 was found to be significantly less frequent in stroke patients than in controls (OR = 0.61, 95% CI = 0.45–0.83, p = 0.001), when comparing each clade against all other haplogroups pooled together. Conversely, the pre-HV/HV and U mtDNA lineages emerge as potential genetic factors conferring risk for stroke (OR = 3.14, 95% CI = 1.41–7.01, p = 0.003, and OR = 2.87, 95% CI = 1.13–7.28, p = 0.021, respectively). SNPs m.3010G>A, m.7028C>T and m.11719G>A strongly influence ischemic stroke risk, their allelic state in haplogroup H1 corroborating its protective effect. Conclusion Our data suggests that mitochondrial haplogroup H1 has an impact on ischemic stroke risk in a Portuguese sample. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|