Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies

Autor: Yoshiki Yasukochi, Yu Taniguchi, Masaaki Muramatsu, Motoji Sawabe, Mitsutoshi Oguri, Jun Sakuma, Shuichi Obuchi, Kimihiko Kato, Tomio Arai, Hisashi Kawai, Tetsuo Fujimaki, Hideki Horibe, Masashi Tanaka, Yoshiji Yamada, Yoshinori Fujiwara, Shoji Shinkai, Seijiro Mori, Ichiro Takeuchi
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: International Journal of Molecular Medicine
ISSN: 1791-244X
1107-3756
Popis: 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 correlation of allele frequencies for 41,432 single nucleotide polymorphisms (SNPs) that passed quality control to aortic aneurysm was examined with Fisher's exact test. Based on Bonferroni's correction, a P-value of
Databáze: OpenAIRE