tailieunhanh - báo cáo khoa học: " From GWAS to the clinic: risk factors for intracranial aneurysms"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: From GWAS to the clinic: risk factors for intracranial aneurysms | Ruigrok and Rinkel Genome Medicine 2010 2 61 http content 2 9 61 Genome Medicine COMMENTARY L__ From GWAS to the clinic risk factors for intracranial aneurysms Ynte M Ruigrok and Gabriel JE Rinkel Abstract Subarachnoid hemorrhage SAH from a ruptured intracranial aneurysm is a devastating subset of stroke occurring in relatively young people mean age around 50 years of whom around a third die within the initial weeks after the bleed. Environmental and genetic risk factors both have a role in SAH. A recent genomewide association study of intracranial aneurysms in Finnish Dutch and Japanese cohorts totaling 5 891 cases and 14 181 controls identified three new loci strongly associated with intracranial aneurysms on chromosomes and and replicated two previously found loci on chromosomes and . However these five intracranial aneurysm risk loci identified so far explain only up to 5 of the familial risk of intracranial aneurysms which makes genetic risk prediction tests currently unfeasible for intracranial aneurysms. New approaches including identification of causal variants rare variants and copy number variants such as insertions and deletions may improve genetic risk prediction for SAH and intracranial aneurysms. This may lead to diagnostic tools for identifying individuals at increased risk for aneurysm formation and rupture of aneurysms. In this way genetic diagnostic tools will identify the people who will benefit most from screening by imaging studies for aneurysms and those who are most likely to benefit from preventive treatment of incidentally discovered aneurysms. Subarachnoid hemorrhage epidemiology and socioeconomic burden Subarachnoid hemorrhage SAH from a ruptured intracranial aneurysm is a devastating subset of stroke. Intracranial aneurysms are mostly situated on the larger Correspondence Utrecht Stroke Center University Medical Center Utrecht 3508 GA Utrecht The