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BMI as a Modifiable Risk Factor for Type 2 Diabetes: Refining and Understanding Causal Estimates Using Mendelian Randomization.

Accepted version
Peer-reviewed

Type

Article

Change log

Authors

Corbin, Laura J 
Richmond, Rebecca C 
Wade, Kaitlin H 
Bowden, Jack 

Abstract

This study focused on resolving the relationship between BMI and type 2 diabetes. The availability of multiple variants associated with BMI offers a new chance to resolve the true causal effect of BMI on type 2 diabetes; however, the properties of these associations and their validity as genetic instruments need to be considered alongside established and new methods for undertaking Mendelian randomization (MR). We explore the potential for pleiotropic genetic variants to generate bias, revise existing estimates, and illustrate value in new analysis methods. A two-sample MR approach with 96 genetic variants was used with three different analysis methods, two of which (MR-Egger and the weighted median) have been developed specifically to address problems of invalid instrumental variables. We estimate an odds ratio for type 2 diabetes per unit increase in BMI (kg/m(2)) of between 1.19 and 1.38, with the most stable estimate using all instruments and a weighted median approach (1.26 [95% CI 1.17, 1.34]). TCF7L2(rs7903146) was identified as a complex effect or pleiotropic instrument, and removal of this variant resulted in convergence of causal effect estimates from different causal analysis methods. This indicated the potential for pleiotropy to affect estimates and differences in performance of alternative analytical methods. In a real type 2 diabetes-focused example, this study demonstrates the potential impact of invalid instruments on causal effect estimates and the potential for new approaches to mitigate the bias caused.

Description

Keywords

Body Mass Index, Diabetes Mellitus, Type 2, Genetic Pleiotropy, Genetic Predisposition to Disease, Humans, Mendelian Randomization Analysis, Odds Ratio, Risk Factors, Transcription Factor 7-Like 2 Protein

Journal Title

Diabetes

Conference Name

Journal ISSN

0012-1797
1939-327X

Volume Title

Publisher

American Diabetes Association
Sponsorship
Medical Research Council (MR/L003120/1)
Medical Research Council (G0800270)
Wellcome Trust (100114/Z/12/Z)
British Heart Foundation (None)
British Heart Foundation (None)
Medical Research Council (MC_UU_00002/7)
Medical Research Council (G0800270/1)
Medical Research Council (Grant IDs: MC_UU_12013/1, MC_UU_12013/2, MC_UU_12013/3); University of Bristol; Wellcome Trust (Grant ID: 100114); Medical Research Council (Methodology Research Fellowship, Grant ID: MR/N501906/1); Cancer Research UK (C18281/A19169).