Published Online
on May 29, 2003

A more recent version of this article appeared on July 1, 2003

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Submitted on January 3, 2003
Accepted on January 30, 2003

Endoglin Is Not a Major Susceptibility Gene for Intracranial Aneurysm Among Japanese

Hideaki Onda MD; Hidetoshi Kasuya MD; Taku Yoneyama MD; Tomokatsu Hori MD; Toshiaki Nakajima MD; and Ituro Inoue MD^*

From the Department of Neurosurgery, Neurological Institute, Tokyo Women's Medical University (H.O., H.K., T.Y., T.H.), and Division of Genetic Diagnosis, Institute of Medical Science, University of Tokyo (T.N., I.I.), Tokyo, Japan.

^* To whom correspondence should be addressed. E-mail: ituro{at}ims.u-tokyo.ac.jp.

Background and Purpose--A 6-base insertion (6bINS) polymorphism in intron 7 of the endoglin gene (ENG), which codes for a component of the transforming growth factor- receptor complex, was reported to be associated with intracranial aneurysm (IA) in a Japanese population. A recent report using a white population could not replicate the association. We tested for this association with high statistical power in our independent Japanese subjects and evaluated the linkage between markers on chromosome 9, which contains ENG, and IA.

Methods--The sample for the linkage study comprised 179 individuals with IA in 85 nuclear families, with 104 possible affected sibpairs. For the association study of the 6bINS polymorphism and 4 single nucleotide polymorphisms (SNPs) in ENG, 172 Japanese patients with IA and 192 control subjects were examined.

Results--There was no evidence of linkage in the vicinity of ENG by analysis of affected sibpairs. The allele frequency of the 6bINS polymorphism was 104 of 344 (30.2%) in the total IA group and 122 of 382 (31.9%) in the control group. The statistical difference in allele frequency between the 2 groups was not significant (²=0.245, df=1, P=0.620). The power of the present association study was 98.3% at a significance level of 0.05 on the basis of the allele frequencies in the previous study. In addition, no associations between the 4 SNPs in ENG and IA were detected.

Conclusions--We provide evidence that there is no association between the 6bINS polymorphism or 4 SNPs in ENG and IA and that there is no linkage between the ENG locus and IA, indicating that ENG is not a major susceptibility gene for IA in Japanese.

Key words: association • genes • intracranial aneurysm • linkage (genetics)

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