scholarly journals Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals

Diabetologia ◽  
2011 ◽  
Vol 54 (8) ◽  
pp. 2047-2055 ◽  
Author(s):  
J. E. Below ◽  
E. R. Gamazon ◽  
J. V. Morrison ◽  
A. Konkashbaev ◽  
A. Pluzhnikov ◽  
...  
2008 ◽  
Vol 40 (5) ◽  
pp. 638-645 ◽  
Author(s):  
Eleftheria Zeggini ◽  
◽  
Laura J Scott ◽  
Richa Saxena ◽  
Benjamin F Voight ◽  
...  

2015 ◽  
Vol 6 ◽  
Author(s):  
Adebowale A. Adeyemo ◽  
Fasil Tekola-Ayele ◽  
Ayo P. Doumatey ◽  
Amy R. Bentley ◽  
Guanjie Chen ◽  
...  

2011 ◽  
Vol 43 (10) ◽  
pp. 984-989 ◽  
Author(s):  
Jaspal S Kooner ◽  
◽  
Danish Saleheen ◽  
Xueling Sim ◽  
Joban Sehmi ◽  
...  

2021 ◽  
Author(s):  
Minako Imamura ◽  
Atsushi Takahashi ◽  
Masatoshi Matsunami ◽  
Momoko Horikoshi ◽  
Minoru Iwata ◽  
...  

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.


Diabetes ◽  
2013 ◽  
Vol 62 (5) ◽  
pp. 1746-1755 ◽  
Author(s):  
R. Saxena ◽  
D. Saleheen ◽  
L. F. Been ◽  
M. L. Garavito ◽  
T. Braun ◽  
...  

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