A DNA sequence polymorphism in the endoglin gene is not associated with intracranial aneurysm or aneurysmal subarachnoid hemorrhage.
OBJECTIVE
Endoglin is a member of the transforming growth factor beta family of proteins and plays a central role in vascular growth and development. There have been conflicting reports that polymorphic variation in the endoglin gene is a risk factor for intracranial aneurysms (IAs). We sought to further investigate the intron 7 5'-TCCCCC-3' endoglin polymorphism as a risk factor for IA and subarachnoid hemorrhage (SAH) in a population of patients from western Pennsylvania.


METHODS
We genotyped 98 IA patients and 191 unaffected controls for a length polymorphism in intron 7 using PCR-based methods.


RESULTS
The endoglin polymorphism was not associated with IA or the incidence of aneurysm rupture and SAH. No association was found when data were stratified by smoking and hypertension.


CONCLUSIONS
These data, from a population recruited in western Pennsylvania, support recent findings in Japanese and German populations that, despite earlier observation to the contrary, endoglin is not associated with IA. Furthermore, our study extends previous observations by demonstrating no association between endoglin and either IA or SAH regardless of whether data were stratified for modifiable risk factors such as smoking and hypertension.
Department of Pharmacology and Therapeutics, University of Liverpool, Liverpool, UK.
David G
DG
Peters
Amin B
AB
Kassam
Yue-Fang
YF
Chang
D000328:Adult; D000368:Aged; D000483:Alleles; D000783:Aneurysm / Q000235:genetics*; D015703:Antigens, CD; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics*; D000071063:Endoglin; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010414:Pennsylvania / Q000453:epidemiology; D011110:Polymorphism, Genetic / Q000235:genetics*; D011956:Receptors, Cell Surface; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013345:Subarachnoid Hemorrhage / Q000235:genetics*; D019010:Vascular Cell Adhesion Molecule-1 / Q000235:genetics*
D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; D019010:Vascular Cell Adhesion Molecule-1; D004247:DNA