Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, the Netherlands.
Angiology. 2010 Apr;61(3):238-42. doi: 10.1177/0003319709354751. Epub 2010 Jan 5.
A genetic variant on chromosome 9p21 associates with abdominal aortic aneurysm (AAA) and intracranial aneurysm (IA), indicating that despite the differences in pathology there are shared genetic risk factors. We investigated whether the IA susceptibility genes heparan sulfate proteoglycan 2 (HSPG2) and chondroitin sulfate proteoglycan 2 (CSPG2) associate with AAA as well.
Using tag single nucleotide polymorphisms (SNPs), all common variants were analyzed in a Dutch AAA case-control population in a 2-stage genotyping approach. In stage 1, 12 tag SNPs in HSPG2 and 22 tag SNPs in CSPG2 were genotyped in 376 patients and 648 controls. Genotyping of significantly associated SNPs was replicated in a second independent cohort of 360 cases and 376 controls.
In stage 1, no HSPG2 SNPs and 1 CSPG2 SNP associated with AAA (rs2652106, P = .019). Association of this SNP was not replicated (P = .342).
Our findings demonstrate that, in contrast to IA, HSPG2 and CSPG2 do not associate with AAA.
9p21 染色体上的一个遗传变异与腹主动脉瘤（AAA）和颅内动脉瘤（IA）相关，表明尽管在病理学上存在差异，但存在共同的遗传风险因素。我们研究了肝素硫酸蛋白聚糖 2（HSPG2）和软骨素硫酸蛋白聚糖 2（CSPG2）这两种 IA 易感基因是否也与 AAA 相关。
使用标签单核苷酸多态性（SNP），采用两阶段基因分型方法对荷兰 AAA 病例对照人群中的所有常见变体进行分析。在第 1 阶段，在 376 名患者和 648 名对照中对 HSPG2 的 12 个标签 SNP 和 CSPG2 的 22 个标签 SNP 进行了基因分型。在第二个独立的 360 例病例和 376 例对照队列中，对显著相关的 SNP 进行了基因分型复制。
在第 1 阶段，没有 HSPG2 SNP 和 1 个 CSPG2 SNP 与 AAA 相关（rs2652106，P =.019）。该 SNP 的关联未被复制（P =.342）。
我们的研究结果表明，与 IA 相反，HSPG2 和 CSPG2 与 AAA 不相关。
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