TY - JOUR
T1 - Lack of association between endoglin intron 7 insertion polymorphism and intracranial aneurysms in a white population: Evidence of racial/ethnic differences
AU - Krex, Dietmar
AU - Ziegler, Andreas
AU - Schackert, Hans Konrad
AU - Schackert, Gabriele
PY - 2001
Y1 - 2001
N2 - Background and Purpose - Endoglin is a component of the transforming growth factor-β 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.
AB - Background and Purpose - Endoglin is a component of the transforming growth factor-β 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.
UR - http://www.scopus.com/inward/record.url?scp=0035168847&partnerID=8YFLogxK
U2 - 10.1161/hs1101.098660
DO - 10.1161/hs1101.098660
M3 - Journal articles
C2 - 11692035
AN - SCOPUS:0035168847
SN - 0039-2499
VL - 32
SP - 2689
EP - 2694
JO - Stroke
JF - Stroke
IS - 11
ER -