Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes

Autor: Jun Hosoe, Ken Suzuki, Fuyuki Miya, Takashi Kato, Tatsuhiko Tsunoda, Yukinori Okada, Momoko Horikoshi, Nobuhiro Shojima, Toshimasa Yamauchi, Takashi Kadowaki
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Druh dokumentu: article
ISSN: 2054-345X
DOI: 10.1038/s41439-021-00156-8
Popis: Abstract 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.
Databáze: Directory of Open Access Journals