Article
Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies.
International journal of molecular medicine - 1 May 2017
Yamada Yoshiji, Sakuma Jun, Takeuchi Ichiro, Yasukochi Yoshiki, Kato Kimihiko, Oguri Mitsutoshi, Fujimaki Tetsuo, Horibe Hideki, Muramatsu Masaaki, Sawabe Motoji, Fujiwara Yoshinori, Taniguchi Yu, Obuchi Shuichi, Kawai Hisashi, Shinkai Shoji, Mori Seijiro, Arai Tomio, Tanaka Masashi
Abstract excerpt
We performed an exome-wide association study (EWAS) to identify genetic variants - in particular, low‑frequency or rare variants with a moderate to large effect size - that confer susceptibility to aortic aneurysm with 8,782 Japanese subjects (456 patients with aortic aneurysm, 8,326 control individuals) and with the use of Illumina HumanExome-12 DNA Analysis BeadChip or Infinium Exome-24 BeadChip arrays. The...
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