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  • Title: The transforming growth factor-β receptor genes and the risk of intracranial aneurysms.
    Author: Ruigrok YM, Baas AF, Medic J, Wijmenga C, Rinkel GJ.
    Journal: Int J Stroke; 2012 Dec; 7(8):645-8. PubMed ID: 21978186.
    Abstract:
    BACKGROUND: Mutations in the receptor genes of the transforming growth factor β pathway, TGFBR1 and TGFBR2, cause syndromes with thoracic aortic aneurysms, while genetic variants in TGFBR1 and TGFBR2 are associated with abdominal aortic aneurysms. The transforming growth factor-β pathway may be involved in aneurysm development in general. Aims To analyze whether genetics variants in TGFBR1 and TGFBR2 are also involved in the pathogenesis of intracranial aneurysms. METHODS: Using tag single nucleotide polymorphisms, we analyzed all common genetic variants in TGFBR1 (five single nucleotide polymorphisms) and TGFBR2 (26 single nucleotide polymorphisms) in a Dutch intracranial aneurysm case-control population approach using a two-stage genotyping approach. RESULTS: In stage 1, on analyzing 481 patients and 648 controls, two of the five single nucleotide polymorphisms in TGFBR1 were associated with intracranial aneurysm with P < 0·10. In an independent cohort of 310 intracranial aneurysm patients and 376 controls, a predominance of the allele of the two single nucleotide polymorphisms found more frequently in patients in stage 1 was also observed in patients of stage 2 but the associations were not statistically significant. On combined analyses of both stages, there was a statistically significant association of both single nucleotide polymorphisms with intracranial aneurysm (single nucleotide polymorphism rs1626340, odds ratio 1·24, 95% confidence intervals 1·05-1·46, P = 0·01; single nucleotide polymorphism rs10819634, odds ratio 1·23, 95% confidence intervals 1·03-1·46, P = 0·02) but these associations did not hold after multiple testing correction (i.e., P < 0·0016, 0·05/31). Also, no differences in the single nucleotide polymorphism frequency were observed for TGFBR2 between patients and controls. CONCLUSIONS: We found no evidence for TGFBR1 and TGFBR2 as susceptibility genes for intracranial aneurysm in the Dutch population.
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