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Open AccessReview

Genetics of Type 2 Diabetes—Pitfalls and Possibilities

Department of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Lund University, CRC, Skåne University Hospital SUS, SE-205 02 Malmö, Sweden
Finnish Institute of Molecular Medicine (FIMM), Helsinki University, Helsinki 00014, Finland
Authors to whom correspondence should be addressed.
Academic Editor: J. Peter W. Young
Genes 2015, 6(1), 87-123;
Received: 9 December 2014 / Revised: 28 January 2015 / Accepted: 27 February 2015 / Published: 12 March 2015
(This article belongs to the Special Issue Genetics of Diabetes)
PDF [4249 KB, uploaded 12 March 2015]


Type 2 diabetes (T2D) is a complex disease that is caused by a complex interplay between genetic, epigenetic and environmental factors. While the major environmental factors, diet and activity level, are well known, identification of the genetic factors has been a challenge. However, recent years have seen an explosion of genetic variants in risk and protection of T2D due to the technical development that has allowed genome-wide association studies and next-generation sequencing. Today, more than 120 variants have been convincingly replicated for association with T2D and many more with diabetes-related traits. Still, these variants only explain a small proportion of the total heritability of T2D. In this review, we address the possibilities to elucidate the genetic landscape of T2D as well as discuss pitfalls with current strategies to identify the elusive unknown heritability including the possibility that our definition of diabetes and its subgroups is imprecise and thereby makes the identification of genetic causes difficult. View Full-Text
Keywords: type 2 diabetes; genetics; heritability; genome-wide association studies; common variants; rare variants; parent-of-origin; systems biology type 2 diabetes; genetics; heritability; genome-wide association studies; common variants; rare variants; parent-of-origin; systems biology

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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 (CC BY 4.0).

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Prasad, R.B.; Groop, L. Genetics of Type 2 Diabetes—Pitfalls and Possibilities. Genes 2015, 6, 87-123.

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