OBJECTIVE: The purpose of this investigation was to study the familial aggregation of ischemic stroke and the association between the PDE4D gene and ischemic stroke. METHODS: The study was performed in an isolated population in The Netherlands, where the authors identified 91 patients with ischemic stroke. Ischemic stroke was subclassified in large- and small-vessel infarction. The authors calculated kinship and inbreeding coefficients and genotyped all patients for three single-nucleotide polymorphisms (SNPs) in the PDE4D gene. RESULTS: The proportion of related pairs was higher in patients with ischemic stroke (68.8%) compared with controls (30.7%; p < 0.001). For large-vessel infarction, the proportion of related pairs was higher (71%) compared with small-vessel infarction (62.8%; p < 0.001). Familial aggregation was strongest for patients with early onset (age at onset < 45 years). All stroke groups were significantly more inbred compared with controls. In inbred individuals, the C allele of SNP45 increased the risk of small-vessel infarction 4.8 times (95% CI 1.1 to 22.3) compared with controls (p = 0.04). The T allele of SNP39 increased the risk of small-vessel infarction 6.3 times (95% CI 1.4 to 28.7) compared with controls (p = 0.02). No associations were found for large-vessel stroke. CONCLUSIONS: There was familial aggregation of ischemic stroke and a difference in degree of familial clustering between stroke subtypes. The authors also found that the PDE4D gene is significantly associated with small-vessel infarction in inbred individuals.
OBJECTIVE: The purpose of this investigation was to study the familial aggregation of ischemic stroke and the association between the PDE4D gene and ischemic stroke. METHODS: The study was performed in an isolated population in The Netherlands, where the authors identified 91 patients with ischemic stroke. Ischemic stroke was subclassified in large- and small-vessel infarction. The authors calculated kinship and inbreeding coefficients and genotyped all patients for three single-nucleotide polymorphisms (SNPs) in the PDE4D gene. RESULTS: The proportion of related pairs was higher in patients with ischemic stroke (68.8%) compared with controls (30.7%; p < 0.001). For large-vessel infarction, the proportion of related pairs was higher (71%) compared with small-vessel infarction (62.8%; p < 0.001). Familial aggregation was strongest for patients with early onset (age at onset < 45 years). All stroke groups were significantly more inbred compared with controls. In inbred individuals, the C allele of SNP45 increased the risk of small-vessel infarction 4.8 times (95% CI 1.1 to 22.3) compared with controls (p = 0.04). The T allele of SNP39 increased the risk of small-vessel infarction 6.3 times (95% CI 1.4 to 28.7) compared with controls (p = 0.02). No associations were found for large-vessel stroke. CONCLUSIONS: There was familial aggregation of ischemic stroke and a difference in degree of familial clustering between stroke subtypes. The authors also found that the PDE4D gene is significantly associated with small-vessel infarction in inbred individuals.
Authors: Håkan Lövkvist; Sandra Olsson; Peter Höglund; Olle Melander; Christina Jern; Marketa Sjögren; Gunnar Engström; J Gustav Smith; Bo Hedblad; Gunnar Andsberg; Hossein Delavaran; Katarina Jood; Ulf Kristoffersson; Holger Luthman; Bo Norrving; Arne Lindgren Journal: Eur J Hum Genet Date: 2012-01-25 Impact factor: 4.246
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Authors: J M Staton; M S Sayer; G J Hankey; J Attia; A Thakkinstian; Q Yi; V J Cole; R Baker; J W Eikelboom Journal: J Neurol Neurosurg Psychiatry Date: 2006-09 Impact factor: 10.154
Authors: Qing Song; John W Cole; Jeffrey R O'Connell; Oscar C Stine; Margaret Gallagher; Wayne H Giles; Braxton D Mitchell; Marcella A Wozniak; Barney J Stern; John D Sorkin; Patrick F McArdle; Adam C Naj; Qin Xu; Gary H Gibbons; Steven J Kittner Journal: Hum Mol Genet Date: 2006-07-11 Impact factor: 6.150
Authors: Giovanni Quarta; Rosita Stanzione; Anna Evangelista; Bastianina Zanda; Emanuele Di Angelantonio; Simona Marchitti; Sara Di Castro; Marta Di Vavo; Massimo Volpe; Speranza Rubattu Journal: Eur J Hum Genet Date: 2009-05-06 Impact factor: 4.246