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BioMed Research International
Volume 2017 (2017), Article ID 1758636, 4 pages
Research Article

Integrating Genome-Wide Association and eQTLs Studies Identifies the Genes and Gene Sets Associated with Diabetes

Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center, Xi’an Jiaotong University, Xi’an, China

Correspondence should be addressed to Feng Zhang

Received 29 March 2017; Accepted 24 May 2017; Published 28 June 2017

Academic Editor: Rosaria Scudiero

Copyright © 2017 Xiao Liang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Aim. To identify novel candidate genes and gene sets for diabetes. Methods. We performed an integrative analysis of genome-wide association studies (GWAS) and expression quantitative trait loci (eQTLs) data for diabetes. Summary data was driven from a large-scale GWAS of diabetes, totally involving 58,070 individuals. eQTLs dataset included 923,021 cis-eQTL for 14,329 genes and 4,732 trans-eQTL for 2,612 genes. Integrative analysis of GWAS and eQTLs data was conducted by summary data-based Mendelian randomization (SMR). To identify the gene sets associated with diabetes, the SMR single gene analysis results were further subjected to gene set enrichment analysis (GSEA). A total of 13,311 annotated gene sets were analyzed in this study. Results. SMR analysis identified 6 genes significantly associated with fasting glucose, such as C11ORF10 ( value = 6.04 × 10−8), MRPL33 ( value = 1.24 × 10−7), and FADS1 ( value = 2.39 × 10−7). Gene set analysis identified HUANG_FOXA2_TARGETS_UP (false discovery rate = 0.047) associated with fasting glucose. Conclusion. Our study provides novel clues for clarifying the genetic mechanism of diabetes. This study also illustrated the good performance of SMR approach and extended it to gene set association analysis for complex diseases.