Identification of C21orf59 and ATG2A as novel determinants of renal function-related traits in Japanese by exome-wide association studies

We have performed exome-wide association studies to identify genetic variants that influence renal function-related traits or confer susceptibility to chronic kidney disease or hyperuricemia in Japanese. Exome-wide association studies for estimated glomerular filtration rate and the serum concentrat...

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Published in:Oncotarget 2017-07, Vol.8 (28), p.45259-45273
Main Authors: 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
Format: Article
Language:English
Subjects:
Aged
Autophagy-Related Proteins - genetics
Creatinine - blood
Exome
Female
Genetic Predisposition to Disease
Genome-Wide Association Study
Glomerular Filtration Rate
Humans
Hyperuricemia - blood
Hyperuricemia - genetics
Hyperuricemia - physiopathology
Male
Renal Insufficiency, Chronic - blood
Renal Insufficiency, Chronic - genetics
Renal Insufficiency, Chronic - physiopathology
Research Paper
Risk Factors
Uric Acid - blood
Vesicular Transport Proteins - genetics
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Summary:We have performed exome-wide association studies to identify genetic variants that influence renal function-related traits or confer susceptibility to chronic kidney disease or hyperuricemia in Japanese. Exome-wide association studies for estimated glomerular filtration rate and the serum concentration of creatinine were performed with 12,565 individuals, that for the serum concentration of uric acid with 9934 individuals, and those for chronic kidney disease or hyperuricemia with 5161 individuals (3270 cases, 1891 controls) or 11,686 individuals (2045 cases, 9641 controls), respectively. The relation of genotypes of single nucleotide polymorphisms to estimated glomerular filtration rate or the serum concentrations of creatinine or uric acid was examined by linear regression analysis, and that of allele frequencies of single nucleotide polymorphisms to chronic kidney disease or hyperuricemia was examined with Fisher's exact test. The exome-wide association studies revealed that 25, seven, and six single nucleotide polymorphisms were significantly (P
ISSN:1949-2553
1949-2553
DOI:10.18632/oncotarget.16696