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Association between variants of EXT2 and type 2 diabetes: a replication and meta-analysis

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Abstract

Recent publications have found an association between variants of exostosin 2 (EXT2) gene and the risk of type 2 diabetes in some population but not in others. In an attempt to address these inconsistencies, we investigated EXT2 variants in two independent cohorts, and conducted a literature-based meta-analysis. Through regression model, we assessed the relationship between the EXT2 single nucleotide polymorphisms (SNPs) (rs3740878, rs11037909 and rs1113132) and the risk of type 2 diabetes in Han Chinese population, including a total of 2,533 cases and 2,643 controls. We combined our data with that from previously published studies and performed a meta-analysis to evaluate the effect size of the gene. Consistent with some studies, we found marginal association for the rs3740878 (OR = 1.07, 95 % CI = 0.99, 1.16, p = 0.09), rs11037909 (OR = 1.07, 95 % CI = 0.99, 1.16, p = 0.08), and rs1113132 (OR = 1.08, 95 % CI = 1.00, 1.17, p = 0.06) in our 2 cohorts. Meta-analysis, comprising 9,224 type 2 diabetes and 10,484 controls, revealed that three SNPs (rs3740878, rs11037909 and rs1113132) in EXT2 were significantly associated with type 2 diabetes (ORs range from 1.06 to 1.07, p = 0.038, p = 0.008 and p = 0.005, respectively). Variation in the EXT2 locus appears to be associated with a small increase in the risk of type 2 diabetes. However, well-designed prospective studies with larger sample size and more ethnic groups are needed to further validate the results.

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Acknowledgments

We thank our colleagues at the laboratory and the staff of the endocrinology department of Tongji Hospital for their kind assistance in collecting the data and samples. We are most grateful to all volunteers for participating in the present study. We also acknowledge editorial assistance for improving this study. This study was funded by the research grants from National ‘973’ Project (2012CB518004), ‘863’ Project (2012AA02A510), Key Project of Health Ministration, and National Nature Science Foundation of China (30930039, 81100066).

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The authors declare that there is no conflict of interest associated with this manuscript.

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Correspondence to Hu Ding or Dao Wen Wang.

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L. Liu and X. Yang contributed equally to this study.

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Liu, L., Yang, X., Wang, H. et al. Association between variants of EXT2 and type 2 diabetes: a replication and meta-analysis. Hum Genet 132, 139–145 (2013). https://doi.org/10.1007/s00439-012-1231-x

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