scholarly journals Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes

2016 ◽  
Vol 7 (1) ◽  
Author(s):  
Minako Imamura ◽  
Atsushi Takahashi ◽  
Toshimasa Yamauchi ◽  
Kazuo Hara ◽  
Kazuki Yasuda ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Japanese Population ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide

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

2020 ◽  
Author(s):  
Jun Hosoe ◽  
Ken Suzuki ◽  
Takashi Kato ◽  
Yukinori Okada ◽  
Momoko Horikoshi ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Structural Analysis ◽  
Japanese Population ◽  
Association Studies ◽  
Genome Wide Association ◽  
Structural Basis ◽  
Genome Wide Association Studies ◽  
Risk Variants ◽  
Genome Wide

AbstractRecently, 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.

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

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Jun Hosoe ◽  
Ken Suzuki ◽  
Fuyuki Miya ◽  
Takashi Kato ◽  
Tatsuhiko Tsunoda ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Structural Analysis ◽  
Japanese Population ◽  
Association Studies ◽  
Genome Wide Association ◽  
Structural Basis ◽  
Genome Wide Association Studies ◽  
Risk Variants ◽  
Genome Wide

AbstractRecently, 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.

Genome-Wide Association Studies Identify Two Novel Loci Conferring Susceptibility to Diabetic Retinopathy in Japanese Patients with Type 2 Diabetes

2021 ◽  
Author(s):  
Minako Imamura ◽  
Atsushi Takahashi ◽  
Masatoshi Matsunami ◽  
Momoko Horikoshi ◽  
Minoru Iwata ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Diabetic Retinopathy ◽  
Association Studies ◽  
Meta Analysis ◽  
Japanese Patients ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
Stage 1

Abstract Several reports have suggested that genetic susceptibility contributes to the development and progression of diabetic retinopathy. We aimed to identify genetic loci that confer susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes. We analysed 5 790 508 single nucleotide polymorphisms (SNPs) in 8880 Japanese patients with type 2 diabetes, 4839 retinopathy cases and 4041 controls, as well as 2217 independent Japanese patients with type 2 diabetes, 693 retinopathy cases, and 1524 controls. The results of these two genome-wide association studies (GWAS) were combined with an inverse variance meta-analysis (Stage-1), followed by de novo genotyping for the candidate SNP loci (p < 1.0 × 10−4) in an independent case–control study (Stage-2, 2260 cases and 723 controls). After combining the association data (Stage-1 and -2) using meta-analysis, the associations of two loci reached a genome-wide significance level: rs12630354 near STT3B on chromosome 3, p = 1.62 × 10−9, odds ratio (OR) = 1.17, 95% confidence interval (CI) 1.11–1.23, and rs140508424 within PALM2 on chromosome 9, p = 4.19 × 10−8, OR = 1.61, 95% CI 1.36–1.91. However, the association of these two loci were not replicated in Korean, European, or African American populations. Gene-based analysis using Stage-1 GWAS data identified a gene-level association of EHD3 with susceptibility to diabetic retinopathy (p = 2.17 × 10−6). In conclusion, we identified two novel SNP loci, STT3B and PALM2, and a novel gene, EHD3, that confers susceptibility to diabetic retinopathy; however, further replication studies are required to validate these associations.

Genome-wide association studies of Type 2 diabetes: are these ready to make an impact in the clinic?

2011 ◽  
Vol 1 (4) ◽  
pp. 379-387
Author(s):  
Gaya Thanabalasingham ◽  
Anna L Gloyn ◽  
Katharine R Owen
Keyword(s):  
Type 2 Diabetes ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide

Genetic markers of type 2 diabetes: Progress in genome-wide association studies and clinical application for risk prediction

2015 ◽  
Vol 8 (1) ◽  
pp. 24-35 ◽  
Author(s):  
Xueyin Wang ◽  
Garrett Strizich ◽  
Yonghua Hu ◽  
Tao Wang ◽  
Robert C. Kaplan ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Risk Prediction ◽  
Genetic Markers ◽  
Clinical Application ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide

Association between insulin secretion, insulin sensitivity and type 2 diabetes susceptibility variants identified in genome-wide association studies

2008 ◽  
Vol 46 (3) ◽  
pp. 217-226 ◽  
Author(s):  
Stephanie-May Ruchat ◽  
Cathy E. Elks ◽  
Ruth J. F. Loos ◽  
Marie-Claude Vohl ◽  
S. John Weisnagel ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Insulin Secretion ◽  
Insulin Sensitivity ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Diabetes Susceptibility ◽  
Genome Wide

scholarly journals Genome-wide association studies in type 2 diabetes

2009 ◽  
Vol 9 (2) ◽  
pp. 164-171 ◽  
Author(s):  
Mark I. McCarthy ◽  
Eleftheria Zeggini
Keyword(s):  
Type 2 Diabetes ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide
Sign in / Sign up

Export Citation Format

Share Document