9 号染色体上的等位基因与腹主动脉瘤的关联性。
Association of an allele on chromosome 9 and abdominal aortic aneurysm.
机构信息
Vascular Biology Unit, School of Medicine, James Cook University, Townsville, Queensland 4811, Australia.
出版信息
Atherosclerosis. 2010 Oct;212(2):539-42. doi: 10.1016/j.atherosclerosis.2010.06.015. Epub 2010 Jun 15.
OBJECTIVE
Abdominal aortic aneurysm (AAA) has been recognized as a multi-factorial disease with both genetic and environmental risk factors. A locus residing within non-coding DNA on chromosome 9p21.3 has recently been associated with AAA. To further investigate the significance of this site for AAA, we performed an association study on a large group of 3371 men aged 65-83 years of whom 513 had an AAA.
METHODS
All men were assessed for other risk factors in a uniform way and an ultrasound of the abdominal aorta was performed.
RESULTS
Our findings validated the strong association of the chromosome 9p21.3 SNPs rs10757278 and rs1333049 with AAA and demonstrated the upregulation of LINE-1 elements at the site of AAA.
CONCLUSION
This study confirms a reproducible association between risk alleles on chromosome 9p21.3 and AAA. We also provide preliminary evidence for an association of LINE-1 elements with AAA which will require further investigation.
目的
腹主动脉瘤（AAA）已被认为是一种具有遗传和环境风险因素的多因素疾病。最近，9p21.3 号染色体上非编码 DNA 中的一个基因座与 AAA 相关。为了进一步研究该位点对 AAA 的意义，我们对 3371 名年龄在 65-83 岁的男性进行了一项关联研究，其中 513 名患有 AAA。
方法
所有男性均以统一的方式评估其他风险因素，并对腹部主动脉进行超声检查。
结果
我们的研究结果验证了染色体 9p21.3 SNP rs10757278 和 rs1333049 与 AAA 之间的强关联，并表明在 AAA 部位 LINE-1 元件的上调。
结论
本研究证实了染色体 9p21.3 上的风险等位基因与 AAA 之间存在可重复的关联。我们还提供了 LINE-1 元件与 AAA 相关的初步证据，这需要进一步研究。
Zotero 插件