Academic Journals Database
Disseminating quality controlled scientific knowledge

Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients

ADD TO MY LIST
 
Author(s): Rosa Alexandra | Fonseca Benedita | Krug Tiago | Manso Helena | Gouveia Liliana | Albergaria Isabel | Gaspar Gisela | Correia Manuel | Viana-Baptista Miguel | Simões Rita | Pinto Amélia | Taipa Ricardo | Ferreira Carla | Fontes João | Silva Mário | Gabriel João | Matos Ilda | Lopes Gabriela | Ferro José | Vicente Astrid | Oliveira Sofia

Journal: BMC Medical Genetics
ISSN 1471-2350

Volume: 9;
Issue: 1;
Start page: 57;
Date: 2008;
Original page

ABSTRACT
Abstract 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.
Save time & money - Smart Internet Solutions     

Tango Jona
Tangokurs Rapperswil-Jona