Journal
HUMAN GENOME VARIATION
Volume 8, Issue 1, Pages -Publisher
SPRINGERNATURE
DOI: 10.1038/s41439-021-00156-8
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Funding
- Ministry of Education, Culture, Sports, Science, and Technology of Japan (MEXT) [19K16534]
- Advanced Genome Research and Bioinformatics Study to Facilitate Medical Innovation (GRIFIN) in Platform Program for Promotion of Genome Medicine (P3GM) of AMED
- Grants-in-Aid for Scientific Research [19K16534] Funding Source: KAKEN
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By conducting a genome-wide association study of type 2 diabetes in a Japanese population, we identified 20 novel T2D loci that were not associated with T2D in Europeans, as well as nine novel missense risk variants, such as those of PAX4, which were common in the Japanese population but rare in Europeans. Our in silico structural analysis of ethnic-specific variants of PAX4 suggests their pathogenic effect.
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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