March 1, 2011

expert reaction to JAMA paper on genetics of type 2 diabetes mellitus

The Journal of the American Medical Association (JAMA) paper looked at specific gene variants and their link with type 2 diabetes.

Timothy M Frayling, Professor of Human Genetics, Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, said:

“This is an interesting and potentially important study of a variant of the HMGA1 gene. However, the results are strange in that the frequency of the risk version of the gene varies quite a bit in non-diabetic populations. In one group it is present in only 1 in 200 non-diabetic individuals, in another it is present in nearly 5% of non-diabetic people. The authors have been fairly rigorous and included replication studies, and performed some useful functional studies on how the variant affects expression of HMGA1. However, I would still like to see the finding replicated in larger studies, and if confirmed, I strongly suspect the risk will be less than 2, rather than 16. For each additional study they added the finding got weaker.”

Functional Variants of the HMGA1 Gene and Type 2 Diabetes Mellitus, by Eusebio Chiefari et al., published online in JAMA at 15.00 CT (21.00 UK time) on 1 March 2011.