19q13 染色体单核苷酸多态性与腹主动脉瘤的关联研究。
Association study of single nucleotide polymorphisms on chromosome 19q13 with abdominal aortic aneurysm.
机构信息
Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, The Netherlands.
出版信息
Angiology. 2010 Apr;61(3):243-7. doi: 10.1177/0003319709354752. Epub 2010 Feb 14.
BACKGROUND
Abdominal aortic aneurysm (AAA) is a complex disorder in which environmental and genetic factors play a role in pathogenesis. Linkage to 2 adjacent loci on 19q13 in familiar AAA was previously demonstrated. We studied whether genetic variation within these regions predisposes to AAA.
METHODS
Common genetic variants in the described regions on 19q13 were analyzed using tag single nucleotide polymorphisms (SNPs) in a Dutch case-control population. Single nucleotide polymorphism genotyping was performed in a 2-stage approach.
RESULTS
In stage 1, 615 SNPs were genotyped in 376 AAA patients and 648 controls. In stage 2, 8 SNPs of stage 1 with a P value < .015 were genotyped in a second independent cohort of 360 cases and 376 controls. No differences in allele frequencies were observed.
CONCLUSION
Our findings suggest that there are no common AAA predisposing SNPs within the 19q13 loci. Hence, the genetic basis of familiar and sporadic AAA may differ.
背景
腹主动脉瘤（AAA）是一种复杂的疾病，其发病机制中环境和遗传因素都发挥了作用。先前已经证明，在家族性 AAA 中，19q13 上的 2 个相邻基因座之间存在连锁关系。我们研究了这些区域内的遗传变异是否会导致 AAA。
方法
使用荷兰病例对照人群中描述的 19q13 区域内的标签单核苷酸多态性（SNP）分析常见的遗传变异。单核苷酸多态性基因分型采用 2 阶段方法进行。
结果
在第 1 阶段，在 376 例 AAA 患者和 648 例对照中对 615 个 SNP 进行了基因分型。在第 2 阶段，在第二个独立的 360 例病例和 376 例对照队列中，对第 1 阶段的 8 个 P 值<0.015 的 SNP 进行了基因分型。未观察到等位基因频率的差异。
结论
我们的研究结果表明，在 19q13 基因座内没有常见的 AAA 易感 SNP。因此，家族性和散发性 AAA 的遗传基础可能不同。
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