TY - JOUR
T1 - Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes
AU - Hosoe, Jun
AU - Suzuki, Ken
AU - Miya, Fuyuki
AU - Kato, Takashi
AU - Tsunoda, Tatsuhiko
AU - Okada, Yukinori
AU - Horikoshi, Momoko
AU - Shojima, Nobuhiro
AU - Yamauchi, Toshimasa
AU - Kadowaki, Takashi
N1 - Funding Information:
We acknowledge all authors of our GWAS meta-analysis of T2D in a Japanese population4for their contribution to advancing genetic research. This study was supported by a grant-in-aid for scientific research from the Ministry of Education, Culture, Sports, Science, and Technology of Japan (MEXT) (grant 19K16534 to J.H.). This research was also supported by Advanced Genome Research and Bioinformatics Study to Facilitate Medical Innovation (GRIFIN) in Platform Program for Promotion of Genome Medicine (P3GM) of AMED.
Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12
Y1 - 2021/12
N2 - Recently, we conducted genome-wide association studies of type 2 diabetes (T2D) in a Japanese population, which identified 20 novel T2D loci that were not associated with T2D in Europeans. Moreover, nine novel missense risk variants, such as those of PAX4, were not rare in the Japanese population, but rare in Europeans. We report in silico structural analysis of ethnic-specific variants of PAX4, which suggests the pathogenic effect of these variants.
AB - Recently, we conducted genome-wide association studies of type 2 diabetes (T2D) in a Japanese population, which identified 20 novel T2D loci that were not associated with T2D in Europeans. Moreover, nine novel missense risk variants, such as those of PAX4, were not rare in the Japanese population, but rare in Europeans. We report in silico structural analysis of ethnic-specific variants of PAX4, which suggests the pathogenic effect of these variants.
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U2 - 10.1038/s41439-021-00156-8
DO - 10.1038/s41439-021-00156-8
M3 - Article
AN - SCOPUS:85109161685
SN - 2054-345X
VL - 8
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 25
ER -
