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(Stroke. 2001;32:2689.)
© 2001 American Heart Association, Inc.

Original Contributions

Lack of Association Between Endoglin Intron 7 Insertion Polymorphism and Intracranial Aneurysms in a White Population

Evidence of Racial/Ethnic Differences

Dietmar Krex, MD; Andreas Ziegler, PhD; Hans Konrad Schackert, MD Gabriele Schackert, MD

From the Department of Neurosurgery (D.K., G.S.) and the Department of Surgical Research (H.K.S.), University Hospital Carl Gustav Carus, University of Technology, Dresden, and the Institute of Medical Biometry and Epidemiology (A.Z.), Philipps-University, Marburg, Germany.

Correspondence to Dr Dietmar Krex, Department of Neurosurgery, University Hospital Carl Gustav Carus, University of Technology, Dresden, Fetscherstr. 74, 01307 Dresden, Germany. E-mail krex{at}rcs.urz.tu-dresden.de

Background and Purpose—— Endoglin is a component of the transforming growth factor-ß receptor complex and is predominantly expressed on cell surfaces of endothelial cells. A polymorphism of the endoglin gene has previously been found to be associated with the occurrence of intracranial aneurysms in a Japanese population. In our study, we investigated whether this polymorphism is associated with the development of cerebral aneurysm in a white population.

Methods—— The study population consisted of 121 white patients who had been treated for intracranial aneurysms, 124 healthy white blood donors, and 15 Japanese volunteers. Exon 7 of the endoglin gene and adjacent intronic sequences were amplified by polymerase chain reaction and analyzed by using an automated laser fluorescence detection system.

Results—— A well-known insertion polymorphism (5'-TCCCCC-3', starting 23 bp distal from the 3' end of exon 7) was identified. The allele frequencies of the polymorphism were 35 (14.5%) of 242 alleles in the aneurysm group and 35 (14.1%) of 248 alleles in the white control group, which does not represent a statistically significant difference (P>0.85). The sequence of the polymorphism is complementary to that reported in the previously mentioned Japanese study. However, the 2 polymorphisms are identical. Under this assumption, the allele frequencies differ significantly among the Japanese controls in that particular study and the white controls in our study (27.8% versus 14.1%, respectively; P=0.0003).

Conclusions—— The genetic polymorphism in the vicinity of 3' end of exon 7 in the endoglin gene was not significantly associated with the occurrence of intracranial aneurysms in the white population. There are ethnic-related differences of allele frequencies between our white controls and the previously reported Japanese controls.

Key Words: aneurysm • cerebral vessels • extracellular matrix • polymorphism (genetics)

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